patient_id
string
sex
string
race_ethnicity
string
geographic_region
string
residence_type
string
socioeconomic_status
string
primary_language
string
insurance_type
string
primary_disease_category
string
disease_class
string
orpha_code
int64
omim_number
int64
inheritance_pattern
string
disease_severity_index
float64
expected_mortality_by18_untreated
float64
age_at_symptom_onset_yrs
float64
age_at_diagnosis_yrs
float64
diagnostic_delay_years
float64
prior_misdiagnoses_count
int64
specialists_seen_count
int64
pcp_visits_count
int64
er_visits_pre_diagnosis
int64
hospitalization_pre_diagnosis
int64
newborn_screening_eligible
int64
newborn_screening_caught
int64
newborn_screening_age_at_flag_days
float64
genetic_test_modality
string
time_to_genetic_test_months
float64
genetic_test_insurance_denial_flag
int64
genetic_test_cost_usd
int64
pathogenic_variant_confirmed
int64
diagnosis_source
string
diagnostic_odyssey_cost_usd
float64
parent_self_advocacy_score
float64
developmental_milestones_status
string
gross_motor_quotient
float64
fine_motor_quotient
float64
expressive_language_quotient
float64
receptive_language_quotient
float64
cognitive_quotient
float64
autism_spectrum_comorbid_flag
int64
adhd_comorbid_flag
int64
seizure_flag
int64
seizure_onset_age_yrs
float64
seizure_medications_count
int64
cardiac_involvement_flag
int64
lvh_severity
string
respiratory_involvement_flag
int64
fvc_pct_predicted
float64
niv_use_flag
int64
tracheostomy_flag
int64
gi_involvement_flag
int64
g_tube_flag
int64
hepatic_involvement_flag
int64
renal_involvement_flag
int64
ophthalmologic_involvement_flag
int64
hearing_loss_flag
int64
skeletal_involvement_flag
int64
short_stature_zscore
float64
bmi_zscore
float64
plasma_amino_acids_abnormal
int64
urine_organic_acids_abnormal
int64
acylcarnitine_profile_abnormal
int64
urine_gag_elevated
int64
chitotriosidase_u_l
float64
lyso_gb1_ng_ml
float64
lyso_gb3_ng_ml
float64
gaa_activity_nmol_hr_mg
float64
gla_activity_nmol_hr_mg
float64
ammonia_umol_l
float64
lactate_mmol_l
float64
pyruvate_mmol_l
float64
ck_u_l
float64
ldh_u_l
float64
ast_u_l
float64
ferritin_ng_ml
float64
soluble_il2r_u_ml
float64
orphan_drug_available_for_condition
int64
treatment_received
string
ert_product
string
gene_therapy_product
string
aso_product
string
small_molecule_product
string
treatment_start_age_yrs
float64
treatment_delay_from_dx_months
float64
treatment_cost_annual_usd
float64
payer_coverage_status
string
appeal_submitted_flag
int64
appeal_success_flag
int64
time_to_treatment_access_months
float64
patient_assistance_program_enrolled_flag
int64
copay_out_of_pocket_annual_usd
float64
icer_value_assessment
string
qaly_estimate_per_year
float64
treatment_adherence_pct
float64
infusion_reaction_flag
int64
antidrug_antibody_flag
int64
treatment_efficacy_response
string
hsct_performed_flag
int64
hsct_donor_type
string
hsct_gvhd_flag
int64
hsct_engraftment_success_flag
int64
disease_progression_velocity
string
hospitalization_annual_count
int64
hospitalization_days_annual
int64
metabolic_crisis_count
int64
icu_admission_flag
int64
respiratory_failure_event_flag
int64
ambulation_status_age18
string
communication_status_age18
string
g_tube_dependent_age18
int64
ventilator_dependent_age18
int64
school_placement
string
iep_504_plan_flag
int64
therapies_received_count
int64
mortality_flag
int64
age_at_death_yrs
float64
cause_of_death
string
hospice_palliative_care_flag
int64
caregiver_zarit_score
float64
caregiver_phq9_score
float64
caregiver_gad7_score
float64
caregiver_employment_disruption_flag
int64
caregiver_lost_income_annual_usd
float64
caregiver_sleep_hours_per_night
float64
household_out_of_pocket_annual_usd
float64
ped_qol_total
float64
ped_qol_physical
float64
ped_qol_emotional
float64
ped_qol_social
float64
ped_qol_school
float64
sibling_impact_score
float64
marital_strain_flag
int64
divorce_separation_flag
int64
parent_advocacy_group_member_flag
int64
social_media_rare_community_engagement_flag
int64
clinical_trial_participation_flag
int64
natural_history_study_enrollment_flag
int64
patient_registry_enrollment_flag
int64
distance_to_specialty_center_miles
float64
travel_burden_days_per_year
int64
telehealth_use_flag
int64
language_barrier_interpretation_needed_flag
int64
immigration_status_concern_flag
int64
food_insecurity_flag
int64
housing_instability_flag
int64
transportation_barrier_flag
int64
missed_appointments_annual_count
int64
sdoh_composite_risk_score
float64
HCG5-0000000
Female
White_non_Hispanic
Europe
Suburban
Low
Mandarin
Medicaid_CHIP
Achondroplasia
SKEL
15
100,800
AD
4.62
0.04
0.029
2.357
2.328
2
7
9
2
1
0
0
null
Panel
3.12
0
1,500
1
Geneticist
34,545.53
4.62
Delayed
58.3
63.9
59.8
78.4
78.7
1
0
0
1.43
3
0
null
0
114.8
1
0
1
0
0
0
0
0
1
1.05
1.85
0
0
0
0
623.65
36.085
4.513
3.95
16.17
166.3
2.43
0.208
569.2
243.7
78.7
392.3
328
0
Small_molecule
null
null
null
Supportive_metabolic
2.55
20.81
118,263
Fully_covered
0
0
2.86
0
15,419
Intermediate
0.233
0.717
0
0
Partial
0
null
0
0
Slow_progression
2
18
1
1
0
Assisted
Limited_verbal
0
0
Home_school_medical
1
2
0
null
null
0
27.8
21.1
6.7
1
34,472
6.6
36,091
54.1
60.5
77
77.1
77.9
61.1
0
0
1
1
1
0
0
27.3
3
0
1
0
0
0
0
1
2.12
HCG5-0000001
Female
White_non_Hispanic
MENA
Urban
Middle
English
Commercial
ASS1_citrullinemia
UCD
247,525
215,700
AR
6.2
0.4
0.01
0.1
0.054
0
4
19
1
0
0
0
null
Karyotype
19.62
1
1,200
0
Geneticist
17,265.48
6.48
Regression
49
82.1
85.2
39.9
96.5
0
0
0
2.56
1
0
null
1
32.8
0
0
0
0
1
0
0
0
0
-2.12
-0.95
1
0
0
1
52.95
42.906
20.926
3.62
3.57
20.3
1.6
0.046
366.1
466.8
215.9
282
383.2
1
Supportive_only
null
null
null
null
null
72
0
Partial_coverage
0
0
3.71
0
5,738
Intermediate
0.455
null
0
0
Not_applicable
0
null
0
0
Moderate
4
8
4
1
0
Wheelchair
AAC_device
0
0
Special_ed
1
1
1
3.63
Metabolic_crisis
1
35.4
16.2
18.7
1
25,266
5.8
20,586
51.3
22.1
84.4
35.1
47.9
51.7
0
0
1
0
0
0
1
55.2
10
1
0
0
0
0
1
5
3.02
HCG5-0000002
Male
White_non_Hispanic
North_America
Rural
High
English
Medicaid
XLP
IMM
538
308,240
XLR
8.03
0.5
5.705
18
15
3
7
16
1
1
0
0
null
WES
15.82
0
4,500
1
Geneticist
18,463
6.15
Profound_delay
81.3
48.9
40.6
34.8
22.1
0
1
0
6.89
3
0
null
0
87.8
0
0
0
0
1
0
0
0
1
1.23
0.3
0
0
0
0
248.09
37.991
10.644
6.95
12.35
20
6
0.119
294.4
729.5
29.3
32.4
837.6
0
Supportive_only
null
null
null
null
null
1.74
0
Fully_covered
0
0
0.95
0
1,275
Intermediate
0.156
null
0
0
Not_applicable
0
null
0
0
Stable
0
44
0
0
0
Bedbound
Nonverbal
0
0
Home_school_medical
1
6
0
null
null
0
45.4
10
13.5
1
111,013
7.5
3,027
51.5
51.4
60
50.6
46.5
52.2
0
0
1
1
0
0
1
234.1
33
1
0
0
0
0
0
2
0.71
HCG5-0000003
Male
White_non_Hispanic
Europe
Suburban
High
Spanish
Commercial
X_ALD
LD
43
300,100
XLR
6.53
0.55
0.011
0.011
0
0
3
11
0
1
1
1
4.1
WES
1.22
0
4,500
0
NBS_followup
9,684.75
6.54
Regression
106.1
54
43.1
57.5
32
0
0
0
6.98
5
0
null
1
19.1
1
0
0
0
0
0
1
0
0
-2.79
-3.83
0
0
0
0
244.45
20.652
17.414
2.43
3.38
34.9
1.71
0.177
120.2
160.7
128.6
751.6
1,407.4
1
Small_molecule
null
null
null
Supportive_metabolic
0.13
17.39
1,439,134
Prior_auth_required
0
0
4.03
0
18,054
Low_value
0.397
0.686
0
0
Responder
0
null
0
0
Stable
1
22
0
0
0
Wheelchair
AAC_device
0
0
Not_enrolled
0
1
0
null
null
1
16.2
13.8
14.4
0
0
7.5
6,724
68.6
48.3
91.9
49
42.2
75.7
0
0
0
0
0
0
0
714.2
16
1
0
1
0
1
0
0
4.72
HCG5-0000004
Male
Black_non_Hispanic
Asia_Pacific
Urban
Low
English
Commercial
Fabry
LSD
324
301,500
XLR
4.66
0.04
4.073
16.818
12.745
2
11
8
2
0
0
0
null
Panel
11.19
0
1,500
1
Cardiologist
10,826.28
7.12
Delayed
90.4
78.5
91
80
94
0
1
1
1.7
8
1
Mild
0
89.4
0
0
1
0
0
1
1
1
1
-2.58
-2.93
0
0
1
0
339.59
28.315
29.939
6.2
2.12
40
3.47
0.185
399.9
595.6
20.8
1,242.1
796.5
1
Gene_therapy
null
Clinical_trial
null
null
18
7.06
1,141,560
Prior_auth_required
0
0
2.6
1
1,509
Cost_saving
0.224
0.709
0
0
Responder
0
null
0
0
Slow_progression
2
21
2
0
1
Assisted
Limited_verbal
1
0
Special_ed
1
5
0
null
null
0
48.8
11.6
9.5
1
12,150
4.5
2,200
18.6
42.6
68
85.5
51
34.7
0
1
1
1
0
1
1
370.3
6
0
0
0
0
0
0
0
1.03
HCG5-0000005
Female
White_non_Hispanic
Europe
Rural
Low
Spanish
Commercial
22q11_2_DiGeorge
SYN
567
188,400
AD
4.35
0.08
0.01
4.071
4.061
2
9
7
0
1
0
0
null
Panel
13.9
0
1,500
0
Geneticist
31,144.82
5.61
Delayed
99.8
107.8
61.1
77.1
74.5
0
0
1
6.55
4
1
Mild
0
114
0
0
0
0
1
0
0
1
0
-2.64
0.4
1
0
0
0
234.06
52.688
2.797
7.06
22.67
48.1
2.18
0.219
20
142.6
102.1
32
2,085.4
0
Supportive_only
null
null
null
null
null
16.31
0
Fully_covered
0
0
5.77
0
394
Intermediate
0.383
null
0
0
Not_applicable
0
null
0
0
Rapid
11
30
1
0
0
Assisted
Limited_verbal
1
0
Special_ed
1
1
0
null
null
0
46.7
18.9
0.1
1
64,656
5.7
11,638
36.3
61.2
73.9
49.1
42.6
66.7
1
0
0
0
0
1
1
18.5
9
1
0
0
0
0
0
16
0.3
HCG5-0000006
Male
Asian
Asia_Pacific
Urban
High
English
Medicaid_CHIP
OI_type1_to_4
SKEL
666
166,200
AD
7.32
0.06
0.01
2.341
2.331
1
22
14
0
0
0
0
null
MLPA
15.11
0
1,000
1
Geneticist
21,158.76
5.71
Regression
84.3
56
36.6
34.8
83.3
0
1
1
1.86
5
0
null
1
81.7
0
0
0
0
0
0
0
0
1
-3.34
0.64
0
0
0
0
181.76
8.293
9.337
5.9
2.38
28.3
2.14
0.307
355.8
734.2
28.9
744.9
329.9
1
Supportive_only
null
null
null
null
null
5.05
0
Denied
0
0
30.82
0
396
Intermediate
0.465
null
0
0
Not_applicable
0
null
0
0
Stable
5
41
2
0
1
Wheelchair
AAC_device
1
0
Not_enrolled
1
6
1
11.73
Cardiac
1
44.3
15.5
15
0
0
7.3
17,637
70.2
26.5
62.2
29.9
46.5
46.4
0
0
1
0
0
1
0
76.3
9
0
0
0
0
0
0
1
0.33
HCG5-0000007
Female
White_non_Hispanic
Europe
Urban
High
English
Commercial
Hypophosphatasia
SKEL
436
241,500
AR
7.48
0.25
0.605
1.79
1.185
3
9
13
2
1
0
0
null
Panel
33.74
0
1,500
0
Metabolic_specialist
254,450.84
6.62
Regression
91.2
48.5
24
57.4
38.8
0
1
1
2.69
4
0
null
1
78
0
0
1
0
0
0
0
0
1
-3.83
-1.02
0
0
0
0
278.27
22.226
8.194
1.88
2.65
20
3.33
0.209
21.7
324
27.7
1,558.4
1,458.2
1
SRT
null
null
null
null
4.79
0.65
1,152,729
Prior_auth_required
0
0
1.59
0
7,328
Low_value
0.473
0.554
0
0
Partial
0
null
0
0
Slow_progression
1
29
1
0
0
Wheelchair
AAC_device
1
0
Home_school_medical
0
6
0
null
null
0
48.5
16.7
10.3
0
0
4.9
39,325
60.1
36.5
53
51.1
40.3
91.4
1
0
1
1
0
1
0
144.2
13
1
0
0
0
0
1
2
2.45
HCG5-0000008
Male
Hispanic
North_America
Urban
Middle
English
Commercial
Pompe_infantile
LSD
365
232,300
AR
10
0.85
0.023
0.023
0
0
4
7
1
0
1
1
8.5
WGS
1.78
0
8,500
1
NBS_followup
45,927.9
3
Profound_delay
29.6
74.9
12.8
23.4
43.1
1
0
0
4.81
4
1
Severe
1
53.3
1
0
1
1
1
0
1
1
1
-2.07
-1.37
1
1
0
0
417.67
1.616
7.569
3.98
5.03
26
5.62
0.072
356.1
255.4
36.6
33.9
1,475.2
1
SRT
null
null
null
null
0.83
4.35
84,184
Prior_auth_required
0
0
16.65
0
2,354
Low_value
0.157
0.683
0
0
Responder
0
null
0
0
Stable
1
18
1
1
0
Bedbound
Nonverbal
1
0
Special_ed
0
0
1
10.15
Infection
1
46.8
13.8
13.6
1
56,894
7
23,808
37.1
26.7
61.2
27.1
75.6
57.8
1
0
1
1
1
0
0
88.3
2
0
0
0
0
0
1
6
0.68
HCG5-0000009
Male
White_non_Hispanic
Asia_Pacific
Suburban
Middle
Spanish
Medicaid
ARG1
UCD
90
207,800
AR
9.97
0.25
1.523
9.675
8.152
0
7
15
0
1
0
0
null
Single_gene
9.23
0
800
1
Cardiologist
9,542.15
4.1
Profound_delay
19.4
63.4
14.8
55.1
57.3
1
0
0
2.96
1
0
null
0
112.5
0
0
0
1
1
0
0
0
0
-1.63
-0.97
1
0
0
0
1,092.75
43.216
4.458
2.94
2.56
433.2
2.67
0.179
80
435.8
26
146.4
425
1
Supportive_only
null
null
null
null
null
14.61
0
Prior_auth_required
0
0
29.99
0
297
Low_value
0.304
null
0
0
Not_applicable
0
null
0
0
Slow_progression
8
21
2
0
0
Bedbound
Nonverbal
1
1
Mainstream
1
0
1
12.65
Respiratory_failure
1
34.2
0
11.1
1
26,116
2.8
9,253
46.3
9.2
57.9
67.3
34.6
24.4
1
0
1
0
0
0
1
41
28
0
1
0
0
0
0
1
0
HCG5-0000010
Male
Black_non_Hispanic
North_America
Urban
Middle
English
Uninsured
MSUD
OA
511
248,600
AR
8.06
0.55
0.014
0.014
0
0
1
10
2
0
1
1
5.1
Single_gene
0.48
0
800
1
NBS_followup
6,754.25
5.2
Profound_delay
80.6
72.6
56.6
48.7
57.9
0
0
0
2.05
0
0
null
0
97.5
0
0
0
1
1
0
0
0
1
-2.66
-0.09
1
1
0
0
60.19
10.975
6.33
4.22
6.69
34.5
1.66
0.269
1,199.9
225.6
60.2
96.1
2,271.9
0
Supportive_only
null
null
null
null
null
44
0
Fully_covered
0
0
15.93
0
318
Low_value
0.064
null
0
0
Not_applicable
0
null
0
0
Slow_progression
9
24
3
0
0
Bedbound
Nonverbal
1
1
Mainstream_with_support
1
6
1
7.68
Metabolic_crisis
0
39.5
21.3
0
1
89,606
5.7
8,551
60.6
33.6
65.6
50.3
23.4
45.7
0
0
1
1
1
0
1
59.5
23
1
0
0
0
0
0
8
0
HCG5-0000011
Female
Black_non_Hispanic
North_America
Urban
Middle
Other
Commercial
CDKL5_encephalopathy
SYN
3,095
300,672
XLD
10
0.22
0.419
13.883
13.464
2
9
15
5
0
0
0
null
Panel
6.87
0
1,500
1
Immunologist
38,497.72
4.15
Profound_delay
17.6
28.5
10
20.6
10
1
0
0
7.59
3
0
null
1
45.3
1
0
1
1
0
0
1
0
0
-2.37
-4.1
0
1
0
0
28.82
11.241
4.533
2.63
4.96
91.3
5.41
0.173
288.2
472.5
105.5
714.3
206.6
0
Small_molecule
null
null
null
Supportive_metabolic
17.54
15.58
327,668
Prior_auth_required
0
0
9.1
0
2,702
High_value
0.532
0.702
0
0
Partial
0
null
0
0
Stable
0
45
1
0
0
Bedbound
Nonverbal
1
0
Home_school_medical
1
3
0
null
null
0
39.1
13.6
9.3
1
18,320
5.1
4,692
73
3.1
10.5
24.2
1.4
32.9
0
1
1
1
0
0
1
67.9
10
1
1
0
0
0
0
0
2.7
HCG5-0000012
Male
White_non_Hispanic
Europe
Urban
Low
Spanish
Other_public
Congenital_myopathy
NM
97,245
160,150
AR
5.66
0.18
0.694
12.418
11.724
12
14
14
1
1
0
0
null
MLPA
14.31
1
1,000
1
Geneticist
18,822.71
4.86
Delayed
44.7
53.5
21.4
76.3
129.3
1
0
0
2.93
0
0
null
1
63.4
0
0
0
0
0
0
0
0
0
-0.06
0.34
0
1
0
0
38.59
19.891
25.596
12.12
5.14
20
2.99
0.179
259.5
343.1
10.2
155.1
911.2
0
Small_molecule
null
null
null
Supportive_metabolic
12.81
50.4
227,601
Fully_covered
0
0
21.81
1
821
Low_value
0.457
0.574
0
0
Responder
0
null
0
0
Stable
5
20
2
0
0
Assisted
Limited_verbal
0
0
Mainstream
0
4
0
null
null
0
55.3
18.5
6.3
0
0
7.1
37,186
48.3
36.3
45.3
42.8
72.3
83.9
0
1
0
1
1
0
0
22.7
7
1
1
0
0
1
1
14
5.47
HCG5-0000013
Male
Native_American
Asia_Pacific
Urban
Low
Spanish
Other_public
SCID
IMM
183
300,400
XLR
10
0.92
0.02
0.02
0
0
4
12
0
0
1
1
7.3
Panel
0.54
0
1,500
1
NBS_followup
89,172.45
5.68
Profound_delay
16.9
10
36.4
42.3
46.7
1
0
0
4.91
1
0
null
0
107.5
0
0
0
1
0
0
0
0
0
-0.63
-0.35
1
0
0
0
29.57
38.752
17.11
5.2
1.91
24.3
2.47
0.136
421.4
100
39.6
148.4
3,973.8
1
Supportive_only
null
null
null
null
null
5.8
0
Denied
0
0
11.82
0
2,063
Intermediate
0.209
null
0
0
Not_applicable
1
MSD
1
1
Slow_progression
5
8
1
0
0
Bedbound
Nonverbal
1
0
Home_school_medical
1
2
1
5.22
Respiratory_failure
1
35.1
12
12.5
0
0
5.4
2,530
68.7
0
43.2
38.5
71.1
41.8
1
0
1
1
0
0
0
60.2
7
1
1
0
1
0
0
4
3.73
HCG5-0000014
Male
White_non_Hispanic
Latin_America
Urban
Low
English
Uninsured
ARG1
UCD
90
207,800
AR
5.53
0.25
0.848
3.072
2.224
2
10
6
1
0
0
0
null
WES
28.39
0
4,500
1
NBS_followup
34,671.64
8.2
Delayed
61.7
84
48
55
38.4
0
0
0
2.87
3
1
Mild
1
25.8
0
1
0
0
1
0
0
0
1
-2.11
-0
1
1
1
0
54.62
191.072
16.075
1.23
0.74
20
4.12
0.242
91.8
243.4
20.9
388.9
195.4
1
Supportive_only
null
null
null
null
null
5.3
0
Partial_coverage
0
0
18.17
0
4,312
High_value
0.673
null
0
0
Not_applicable
0
null
0
0
Stable
9
32
2
0
1
Assisted
Limited_verbal
0
0
Special_ed
0
0
1
9.86
Cardiac
1
38.7
22.4
12.7
0
0
6.8
2,126
66.4
27.4
33.7
51.3
24.7
69.6
0
0
1
1
0
0
1
11.6
12
1
0
0
0
0
0
3
0.16
HCG5-0000015
Male
White_non_Hispanic
North_America
Urban
High
Spanish
Commercial
MPS_III_Sanfilippo
LSD
581
252,900
AR
8.48
0.7
3.166
7.015
3.849
1
16
13
0
1
0
0
null
Panel
16.95
0
1,500
0
NBS_followup
4,517.58
7.75
Profound_delay
10
48.9
40.3
58.8
57.7
0
0
1
2.9
3
1
Mild
0
64.7
0
0
0
1
1
0
1
0
1
-1.28
-0.6
1
0
0
1
48.11
5.486
2.151
1.55
1.57
223.9
2.7
0.144
995.3
401.6
84.2
1,360.5
3,536.9
0
Supportive_only
null
null
null
null
null
14.55
0
Partial_coverage
0
0
7.44
0
3,163
Intermediate
0.504
null
0
0
Not_applicable
0
null
0
0
Rapid
2
6
0
1
0
Bedbound
Nonverbal
1
0
Home_school_medical
1
2
1
18
Respiratory_failure
1
49.2
10.3
21
1
6,308
6.4
2,004
32.2
20.6
38.4
18.2
56.6
67.2
1
0
1
0
0
0
0
624.7
13
0
0
0
0
0
0
5
1.42
HCG5-0000016
Male
Hispanic
North_America
Urban
Low
Other
Commercial
SMA_type1
NM
83,330
253,300
AR
10
0.9
0.252
2.008
1.756
3
11
6
1
0
1
0
null
WES
34.59
0
4,500
1
Other
10,748.46
6.51
Profound_delay
10
10
56.9
47
51.4
0
0
0
2.33
2
0
null
1
51.8
0
1
1
1
0
0
0
0
0
-3.76
-2.61
0
0
0
0
119.54
10.334
70.384
11.75
1.7
20
9.72
0.21
595.3
622.2
120.8
228.6
563.4
1
Supportive_only
null
null
null
null
null
6.6
0
Fully_covered
0
0
2.57
0
30,000
Intermediate
0.401
null
0
0
Not_applicable
0
null
0
0
Rapid
0
10
1
0
0
Bedbound
Nonverbal
1
0
Mainstream_with_support
0
5
1
13.34
Metabolic_crisis
1
28.7
13.6
13.8
0
0
4.9
17,582
34.1
42.8
66.5
24.4
50.9
34.5
0
1
1
1
0
1
0
31.1
21
1
1
0
0
0
0
2
2.66
HCG5-0000017
Female
Hispanic
MENA
Urban
Low
English
Medicaid
Gaucher_type2_3
LSD
77,259
230,900
AR
8.83
0.72
1.511
5.205
3.695
0
11
12
0
1
0
0
null
WES
5.82
0
4,500
1
Metabolic_specialist
14,650.74
7.06
Profound_delay
31.4
68.1
39.7
65.4
70.6
1
0
0
2.81
8
0
null
0
61.1
0
0
1
1
1
0
1
0
1
-1.48
-2.16
0
0
0
0
426.29
27.271
8.434
3.88
4.32
61.6
2.23
0.196
133.7
430.8
39.6
145.8
1,001.8
1
Chaperone
null
null
null
null
6.09
34.29
1,318,812
Fully_covered
0
0
19.06
0
4,794
Intermediate
0.335
0.605
0
0
Responder
0
null
0
0
Moderate
0
33
1
0
0
Bedbound
Nonverbal
1
1
Mainstream_with_support
0
1
1
10.98
Metabolic_crisis
1
42.7
13.7
8.4
1
91,906
6.9
15,724
69.7
18.8
61.4
55.6
42.5
27.9
0
0
1
1
0
1
1
87.1
17
1
0
0
1
0
0
3
2.2
HCG5-0000018
Male
White_non_Hispanic
North_America
Suburban
Middle
English
Commercial
WAS_Wiskott
IMM
906
301,000
XLR
5.97
0.55
0.816
3.197
2.381
2
18
6
0
0
0
0
null
WES
4.8
0
4,500
0
Geneticist
40,047.97
6.54
Delayed
39.6
56.6
89.9
74.7
85.8
1
0
1
0.81
5
0
null
1
27.8
1
0
0
0
1
0
1
0
1
-1.87
2.04
0
0
1
0
339.16
11.541
58.567
3.28
1.59
59
4.44
0.169
72.7
617.2
27.3
179
7,380.2
1
Gene_therapy
null
Clinical_trial
null
null
3.25
2.13
363,264
Fully_covered
0
0
36
0
28,950
Intermediate
0.305
0.769
0
0
Partial
1
MUD
0
1
Stable
4
19
0
0
1
Assisted
Limited_verbal
1
0
Not_enrolled
1
2
1
11.07
Infection
0
47.1
3.7
8.4
1
38,471
6.5
9,366
80.5
21.5
79.6
82.1
24.8
65.7
0
0
1
0
0
0
1
61.8
13
1
0
0
0
0
0
4
0.41
HCG5-0000019
Female
White_non_Hispanic
North_America
Urban
Low
English
Commercial
CMT_1A_1B
NM
101,081
118,220
AD
2.96
0.02
2.313
4.514
2.201
1
3
16
0
1
0
0
null
Panel
34.33
1
1,500
1
Metabolic_specialist
10,430.85
7.44
On_track
99.9
77.6
77.9
76.7
78.1
0
0
0
1.33
4
0
null
1
45.7
0
0
0
0
0
0
0
0
0
-2.25
-1.43
0
0
0
0
97.3
47.103
23.908
11.05
0.89
53.9
2.9
0.201
156.3
233.5
14.4
504.7
965.9
0
Small_molecule
null
null
null
Supportive_metabolic
9.07
25.76
4,663,862
Fully_covered
0
0
4.92
0
3,489
Intermediate
0.278
0.834
0
0
Partial
0
null
0
0
Slow_progression
0
6
2
1
1
Ambulatory
Verbal
0
0
Special_ed
1
5
0
null
null
0
46.5
14.4
12.3
1
48,850
4
8,209
61.7
47.9
84.4
52.8
68
42
0
0
1
0
0
1
1
55.5
30
0
1
0
0
0
0
7
4.24
HCG5-0000020
Female
Asian
North_America
Suburban
Low
English
Commercial
OI_type1_to_4
SKEL
666
166,200
AD
6.23
0.06
0.01
2.103
2.093
0
4
5
0
0
0
0
null
Panel
12.55
0
1,500
1
Cardiologist
30,869.87
3.15
Regression
59.6
32.6
77.5
27.4
26
1
0
0
2.61
0
0
null
0
109.8
0
0
1
0
0
0
0
1
0
-1.76
0.89
0
0
0
0
106.07
19.087
9.89
3.97
1.18
20
2.9
0.179
215
525.2
174.9
56.6
9,079.4
1
Supportive_only
null
null
null
null
null
37.67
0
Fully_covered
0
0
6.82
0
548
Intermediate
0.631
null
0
0
Not_applicable
0
null
0
0
Slow_progression
4
10
0
0
0
Wheelchair
AAC_device
0
0
Special_ed
1
3
0
null
null
0
51.7
17.8
14.8
1
20,193
6.4
1,839
74.2
83.7
79.3
57.8
77.7
50.3
0
0
1
1
0
1
0
95
29
1
0
0
1
0
0
7
1.01
HCG5-0000021
Male
Hispanic
Europe
Urban
Middle
Spanish
Commercial
MSUD
OA
511
248,600
AR
7.56
0.55
0.012
0.012
0
0
3
13
2
0
1
1
4.2
Karyotype
0.9
0
1,200
1
NBS_followup
8,082.57
3.99
Regression
61.3
62.5
35.6
54.4
66.3
0
1
1
3.12
1
0
null
0
109.4
0
0
0
1
0
0
0
0
0
-1.95
-2.13
1
1
0
0
1,353.94
49.244
76.622
1.72
4.71
20
1.79
0.276
66.6
529.6
112.5
240.3
1,332.4
0
Supportive_only
null
null
null
null
null
14.9
0
Fully_covered
0
0
7.39
0
956
Intermediate
0.469
null
0
0
Not_applicable
0
null
0
0
Slow_progression
6
29
2
0
0
Wheelchair
AAC_device
0
0
Home_school_medical
1
2
0
null
null
0
37.2
15.8
4.7
1
85,811
5.2
7,875
57.5
8.6
58.7
99.7
76.3
53.8
0
0
0
1
0
1
1
167.5
17
1
1
0
0
0
1
1
5.39
HCG5-0000022
Male
Other_Multi
Latin_America
Urban
Middle
English
Medicaid
22q11_2_DiGeorge
SYN
567
188,400
AD
3.32
0.08
0.01
1.894
1.884
2
22
18
2
1
0
0
null
WES
22.17
0
4,500
1
Metabolic_specialist
27,053.37
8.64
Delayed
86.8
88.9
79
84.9
44.6
1
0
0
2.23
6
1
Moderate
0
95.1
0
0
1
0
0
0
1
0
1
-3.38
-0.42
0
0
0
0
328.58
17.75
20.3
1.82
6.16
43.1
1.8
0.217
141.4
161.5
11.2
87.2
1,661.4
0
Supportive_only
null
null
null
null
null
27.22
0
Denied
0
0
1.78
0
1,021
Intermediate
0.231
null
0
0
Not_applicable
0
null
0
0
Moderate
1
9
0
0
0
Ambulatory
Verbal
1
0
Special_ed
1
4
0
null
null
0
29.2
25.9
8.6
1
44,232
6.4
20,602
60.5
68.5
92
67.1
67.4
1
1
0
1
1
0
1
1
54.7
7
0
0
0
0
0
1
1
2.02
HCG5-0000023
Female
Black_non_Hispanic
Asia_Pacific
Urban
Middle
English
Medicaid_CHIP
Lamellar_ichthyosis
DERM
313
242,300
AR
5.41
0.06
0.176
0.916
0.74
4
8
9
2
1
0
0
null
Panel
21.36
0
1,500
1
NBS_followup
37,534.79
7.1
Delayed
61.1
65.5
42.5
65.8
95.3
0
0
0
5.02
2
0
null
0
92
0
0
1
0
0
1
0
0
0
0.22
-1.11
0
0
0
0
215.45
36.248
9.919
7.4
2.1
20
3
0.251
120.3
632.5
70.7
65.2
4,197.6
0
Supportive_only
null
null
null
null
null
4.88
0
Prior_auth_required
0
0
3.12
0
681
Intermediate
0.653
null
0
0
Not_applicable
0
null
0
0
Moderate
0
41
0
0
0
Assisted
Limited_verbal
0
0
Mainstream
0
4
0
null
null
0
39.6
7.3
9.6
1
38,173
6.1
2,035
59.9
55.3
51.3
18.7
70
48.2
0
0
0
1
0
0
0
120.2
17
1
0
0
1
0
0
2
1.92
HCG5-0000024
Male
Black_non_Hispanic
Asia_Pacific
Urban
High
English
Commercial
Achondroplasia
SKEL
15
100,800
AD
3.86
0.04
0.057
0.28
0.223
4
6
6
3
0
0
0
null
Panel
3.14
0
1,500
1
Geneticist
100,243.68
6.54
Delayed
92.7
68.1
55.9
17.7
61.5
0
0
0
7.38
0
0
null
0
125
0
0
1
1
0
0
0
0
1
-0.66
-0.86
0
1
1
0
204.69
9.38
8.568
22.73
2.32
20
1.32
0.122
192
430
20.5
28.8
3,115.3
0
Small_molecule
null
null
null
Supportive_metabolic
1.69
4
1,532,687
Partial_coverage
0
0
8.79
0
593
High_value
0.404
0.671
0
0
Responder
0
null
0
0
Stable
3
8
1
0
0
Ambulatory
Verbal
0
0
Mainstream_with_support
0
4
0
null
null
0
47.6
1.8
1.9
1
117,839
7
1,771
35.3
94.7
89.9
72.4
14.8
66.5
0
0
1
1
0
0
0
83.5
16
0
0
0
0
0
0
2
0.63
HCG5-0000025
Male
White_non_Hispanic
North_America
Urban
Low
English
Medicaid_CHIP
MPS_I_Hurler
LSD
579
607,014
AR
8.71
0.8
0.012
0.012
0
0
1
16
0
0
1
1
4.5
Single_gene
4.4
0
800
0
NBS_followup
33,557.57
5.12
Profound_delay
51.5
95.9
34.3
56.3
63.4
0
0
1
5.23
2
0
null
1
43.1
1
1
0
1
0
0
1
0
1
-2.27
-0.94
0
0
1
1
135.74
126.936
30.838
8.77
5.77
20.2
1.58
0.119
193.8
317.1
31.3
138.9
2,109.3
1
ERT
Laronidase
null
null
null
0.91
14.69
136,032
Prior_auth_required
0
0
6.14
1
685
Low_value
0.255
0.766
1
0
Partial
1
MUD
0
1
Stable
7
5
2
0
0
Bedbound
Nonverbal
1
0
Special_ed
1
2
1
18
Neurodegeneration
0
44.7
6.5
14.8
1
12,824
6.9
8,197
43.3
44.3
72.4
54.7
55.9
23.8
1
0
1
0
0
1
0
12
5
0
0
0
0
0
0
9
0
HCG5-0000026
Female
Asian
North_America
Suburban
High
English
Medicaid
Leigh_syndrome
MITO
506
256,000
MT
9.14
0.68
1.317
16.317
15
3
7
25
10
0
0
0
null
WES
7.31
0
4,500
1
Neurologist
12,899.43
7.52
Profound_delay
34.9
20.5
10
23.3
32.6
0
0
1
1.33
3
1
Moderate
0
93.3
0
0
0
1
1
1
1
1
0
-3.91
1.91
0
1
0
0
1,343.64
4.808
7.517
3.3
3.85
20
2.25
0.169
439.5
314.4
18.7
801.6
1,137.6
0
Supportive_only
null
null
null
null
null
4.51
0
Partial_coverage
0
0
6.79
0
3,954
Intermediate
0.776
null
0
0
Not_applicable
0
null
0
0
Slow_progression
0
36
0
1
0
Bedbound
Nonverbal
0
1
Special_ed
0
6
1
18
Cardiac
1
33.5
14.2
12.4
0
0
4.9
12,916
37.7
38
67.1
40.8
55.2
65.4
1
0
1
1
0
0
1
51.4
46
1
0
0
0
0
0
4
0
HCG5-0000027
Female
White_non_Hispanic
Europe
Urban
High
Arabic
Medicaid
Gaucher_type1
LSD
355
230,800
AR
5.56
0.05
4.126
11.968
7.842
2
8
6
2
0
0
0
null
Panel
60.34
0
1,500
1
Metabolic_specialist
103,125.77
5.72
Delayed
33.6
51.8
64.4
76.9
56.9
1
0
0
2.12
0
0
null
0
75
0
0
0
0
1
0
1
1
0
-4.75
2.68
0
0
1
0
149.93
11.74
8.665
3.74
9.65
20
4.68
0.223
254
217.2
11
27.6
383.4
1
Small_molecule
null
null
null
Eliglustat
12.17
13.88
315,294
Denied
1
0
6.85
0
8,671
Cost_saving
0.223
0.873
0
0
Responder
0
null
0
0
Slow_progression
11
7
1
0
0
Assisted
Limited_verbal
0
0
Special_ed
0
6
0
null
null
0
77.3
19.9
9.4
1
51,831
5.2
13,572
74.1
48.7
61.4
34.7
43.4
46
1
0
1
1
0
0
0
39.2
11
1
1
0
0
0
0
3
2.39
HCG5-0000028
Female
Hispanic
North_America
Urban
High
Spanish
Commercial
Pompe_late_onset
LSD
365
232,300
AR
4.58
0.1
0.009
0.009
0
0
3
3
0
0
1
1
3.1
Single_gene
0.29
0
800
1
NBS_followup
22,814.23
7.47
Delayed
79.6
85.1
61.6
102.6
55.8
0
0
0
3.81
0
1
Severe
0
59.7
0
0
0
0
1
0
1
1
1
0.61
-0.02
0
0
1
0
210.46
6.182
7.119
4.66
2.88
36.6
2.34
0.204
396.4
500.4
43.3
444.5
402.5
1
HSCT
null
null
null
null
0.73
13.9
273,059
Prior_auth_required
0
0
6.02
1
32,541
High_value
0.271
0.774
0
0
Responder
0
null
0
0
Slow_progression
2
22
0
0
0
Assisted
Limited_verbal
0
0
Special_ed
1
4
0
null
null
0
34.4
13.4
11.4
1
30,730
5.5
20,140
63
50.1
50.8
75.9
55
30.5
1
0
1
1
0
1
0
98.2
6
0
0
0
0
0
0
4
0.46
HCG5-0000029
Male
White_non_Hispanic
North_America
Suburban
Middle
English
Medicaid_CHIP
MLD
LD
512
250,100
AR
8.01
0.7
0.008
0.008
0
0
5
13
3
0
1
1
2.9
Panel
1.51
0
1,500
1
NBS_followup
53,971.43
4.42
Profound_delay
25.3
31.1
48.9
43.2
69.3
0
0
1
1.22
2
1
Moderate
0
114.1
1
0
0
1
0
0
0
0
0
-2.01
-1.06
0
1
0
0
34.85
45.616
6.171
0.89
1.57
20
2.31
0.122
329.8
424.5
168.5
119.9
6,722.1
1
Gene_therapy
null
Atidarsagene_autotemcel
null
null
5.94
9.26
1,166,037
Prior_auth_required
0
0
3.36
0
1,556
Intermediate
0.42
0.847
0
0
Responder
0
null
0
0
Stable
3
16
2
0
0
Bedbound
Nonverbal
1
0
Special_ed
0
1
1
4.32
Respiratory_failure
1
29.7
10.4
14.3
1
14,646
7.1
7,048
45.7
54.6
56.9
0
32.9
56.9
1
0
0
1
0
1
1
108
49
0
0
0
0
0
0
3
0.57
HCG5-0000030
Female
Black_non_Hispanic
North_America
Urban
Middle
Mandarin
Medicaid
OI_type1_to_4
SKEL
666
166,200
AD
6.61
0.06
0.541
2.878
2.337
4
16
14
3
0
0
0
null
WES
9.16
0
4,500
0
Metabolic_specialist
15,496.88
6.4
Regression
63.9
38.3
26.1
65.3
48
0
1
0
2.6
2
0
null
1
48.3
0
0
1
0
0
0
1
0
0
-0.88
-2.53
0
0
0
0
95.93
36.077
6.521
4.57
8.83
20
1.18
0.226
193.7
488.6
23.4
76
9,891.6
1
Small_molecule
null
null
null
Supportive_metabolic
3.44
13.61
91,608
Fully_covered
0
0
9.89
1
1,366
Intermediate
0.478
0.693
0
0
Partial
0
null
0
0
Slow_progression
5
9
1
0
1
Wheelchair
AAC_device
0
0
Mainstream
1
2
0
null
null
0
37.4
22
20.3
1
41,674
5.3
1,145
73.5
34
30.8
46.5
13.8
50
1
0
0
1
0
0
0
57.5
24
1
1
0
1
0
0
3
4.71
HCG5-0000031
Female
Hispanic
North_America
Urban
Middle
English
Medicaid
22q11_2_DiGeorge
SYN
567
188,400
AD
4.35
0.08
0.644
1.785
1.141
4
11
11
0
1
0
0
null
MLPA
1.53
0
1,000
1
Metabolic_specialist
29,193.47
6.79
Delayed
73.2
94.5
84.3
72.4
91.7
0
1
0
1.92
0
1
Mild
1
70.3
0
0
1
1
0
0
0
0
0
-2.94
-2.64
0
0
0
0
104.51
7.416
60.052
7.15
2.51
20
6.16
0.129
555.8
379.7
83.4
357.2
2,058.2
0
Small_molecule
null
null
null
Supportive_metabolic
2.87
20.05
644,401
Prior_auth_required
0
0
8.99
1
540
Cost_saving
0.284
0.916
0
0
Partial
0
null
0
0
Slow_progression
0
7
1
1
1
Assisted
Limited_verbal
0
0
Special_ed
1
5
0
null
null
0
57.6
11.6
13.4
1
48,566
6.2
10,058
31.9
100
83.9
52.9
67.2
70.3
1
0
1
1
1
1
1
77.1
6
1
0
0
1
0
0
4
4.01
HCG5-0000032
Male
White_non_Hispanic
Europe
Urban
Middle
English
Medicaid_CHIP
PA
OA
35
606,054
AR
7.03
0.5
0.032
0.032
0
0
2
10
2
0
1
1
11.9
WES
2.13
0
4,500
0
NBS_followup
13,080.25
2.78
Regression
29.8
67.9
86.5
64.3
46.2
1
0
0
5.72
4
0
null
0
82.6
0
0
0
1
0
0
0
0
0
-2.17
1.92
1
1
1
0
294.8
54.457
30.169
18.51
1.63
35.4
4.32
0.216
20
404.6
93.1
1,034.4
306.8
0
Supportive_only
null
null
null
null
null
8.93
0
Prior_auth_required
0
0
3.03
0
3,549
High_value
0.022
null
0
0
Not_applicable
0
null
0
0
Moderate
1
23
3
0
0
Wheelchair
AAC_device
1
0
Home_school_medical
1
5
1
12.13
Cardiac
1
55.6
4.9
5
1
73,379
6.9
19,703
35.3
60.7
49.7
40
88.5
41.7
0
0
0
1
0
0
0
60
17
1
0
0
1
0
1
4
3.36
HCG5-0000033
Female
Asian
Asia_Pacific
Urban
Low
English
Medicaid
MSUD
OA
511
248,600
AR
6.19
0.55
0.003
0.003
0
0
2
7
0
0
1
1
1
WES
0.16
0
4,500
1
NBS_followup
35,955.38
7.09
Regression
64.4
70.8
87.9
61.7
59
0
0
0
0.69
0
1
Mild
0
115.4
0
0
0
0
0
0
0
0
1
-2.11
-2.75
1
1
0
0
83.49
11.838
15.056
10.73
7.42
1,034.9
4.63
0.185
159.1
314.8
74.1
1,271.3
835.2
0
Supportive_only
null
null
null
null
null
5.9
0
Fully_covered
0
0
9.71
0
232
High_value
0.426
null
0
0
Not_applicable
0
null
0
0
Slow_progression
1
19
2
0
0
Wheelchair
AAC_device
0
0
Mainstream
1
5
1
11.13
Infection
1
71.9
18.9
21
0
0
5.9
3,224
77.3
42.2
52.5
53.8
29.9
70.6
0
1
1
1
0
1
0
27
29
0
0
0
0
0
0
7
0.39
HCG5-0000034
Male
White_non_Hispanic
North_America
Urban
High
Other
Commercial
Leigh_syndrome
MITO
506
256,000
MT
8.47
0.68
0.33
4.136
3.806
3
9
10
0
0
0
0
null
WGS
8.23
0
8,500
1
Neurologist
55,461.55
2.38
Profound_delay
48.4
51
80.7
35.2
51.7
1
0
1
5.02
1
0
null
0
66.1
0
0
1
1
0
1
1
1
0
-1.51
-1.1
0
0
0
0
190.24
31.456
7.443
20.99
12.24
20
0.93
0.151
123.4
625.4
180.8
334.3
794.8
0
Supportive_only
null
null
null
null
null
24.65
0
Fully_covered
0
0
3.81
0
775
High_value
0.232
null
0
0
Not_applicable
0
null
0
0
Moderate
4
42
0
0
1
Bedbound
Nonverbal
1
0
Special_ed
1
3
1
18
Respiratory_failure
1
34.6
17.4
5.5
1
26,176
7.9
5,233
60.4
34.2
21.2
26.1
45.1
51.2
0
1
0
1
1
0
0
199.3
19
1
0
0
0
0
0
5
0.75
HCG5-0000035
Male
Black_non_Hispanic
Europe
Suburban
Middle
Spanish
Commercial
MPS_I_Hurler
LSD
579
607,014
AR
8.91
0.8
1.422
3.39
1.968
1
4
18
5
1
1
0
null
Panel
33.26
1
1,500
1
Immunologist
17,234.71
8.59
Profound_delay
45.6
31.6
38.5
24.9
51.7
0
0
1
2.85
1
0
null
1
80.6
0
0
1
1
0
1
1
1
1
-1.69
-0.15
0
0
0
1
98.85
38.858
7.417
17.19
3.92
64.6
2.75
0.133
282.4
494.3
87.2
226.5
1,037.1
1
Small_molecule
null
null
null
Supportive_metabolic
3.6
13.47
352,993
Prior_auth_required
0
0
12.03
1
4,182
High_value
0.355
0.71
0
0
Non_responder
0
null
0
0
Stable
1
28
1
0
0
Bedbound
Nonverbal
1
1
Special_ed
1
6
1
17.39
Respiratory_failure
0
44.9
15.1
13.2
1
46,134
5.2
681
19.2
37.5
35
61.1
13.1
59.1
1
0
1
1
0
0
0
97.9
17
1
1
0
0
0
0
0
2.37
HCG5-0000036
Female
White_non_Hispanic
Asia_Pacific
Rural
Middle
Spanish
Medicaid
Pompe_infantile
LSD
365
232,300
AR
6.63
0.85
0.022
0.022
0
0
3
8
1
1
1
1
8.1
WES
0.65
0
4,500
1
NBS_followup
16,384.53
6.25
Regression
59.6
54.1
46.2
87.1
41.2
0
1
0
2.49
0
1
Mild
1
74.7
0
0
0
0
1
0
0
1
1
-2.91
-4.56
1
0
0
0
60.3
17.807
8.759
13.68
1.34
49.9
1.27
0.174
114.3
398
158.1
376.4
746.4
1
Gene_therapy
null
Clinical_trial
null
null
2.78
16.38
383,618
Denied
1
1
6.43
1
302
Intermediate
0.274
0.624
0
0
Partial
0
null
0
0
Stable
4
8
0
0
0
Wheelchair
AAC_device
0
0
Special_ed
1
2
0
null
null
0
61.5
22.7
9.6
1
88,148
6.5
4,537
57.4
43.8
100
100
53.1
44.7
1
0
1
0
0
1
1
420.3
12
1
0
0
0
1
0
2
1.89
HCG5-0000037
Male
White_non_Hispanic
Asia_Pacific
Urban
Middle
English
Commercial
Leigh_syndrome
MITO
506
256,000
MT
7.22
0.68
0.96
1.929
0.97
0
9
12
2
0
0
0
null
Single_gene
4.46
0
800
1
Cardiologist
37,091.25
6.7
Regression
41.4
53.8
59.7
61.4
73.6
1
0
1
4.72
2
1
Severe
1
15.5
1
0
1
1
0
1
1
1
0
-2.92
-2.4
0
0
0
0
57.9
50.343
60.95
4.58
13.21
80.1
3.54
0.171
472.8
341.3
20
3,731.8
3,043
0
Supportive_only
null
null
null
null
null
18.93
0
Partial_coverage
0
0
9.53
0
2,401
High_value
0.225
null
0
0
Not_applicable
0
null
0
0
Moderate
3
28
2
0
1
Wheelchair
AAC_device
0
0
Home_school_medical
1
6
0
null
null
0
33.1
12.5
10.2
0
0
6.3
29,666
29.2
55.8
46.1
35.7
32.6
35.4
0
0
0
0
0
0
0
42.2
6
1
0
0
1
0
0
5
1.22
HCG5-0000038
Male
White_non_Hispanic
Asia_Pacific
Suburban
Low
English
Medicaid
MPS_III_Sanfilippo
LSD
581
252,900
AR
6.79
0.7
3.808
12.484
8.676
2
9
10
1
0
0
0
null
Single_gene
24.54
0
800
1
NBS_followup
12,803.65
6.49
Regression
66.5
74
47.4
71.6
54.6
0
0
1
1.17
6
0
null
0
76.6
0
0
0
0
1
0
0
1
1
-1.9
-2.54
0
0
0
1
152.41
19.498
15.829
5.91
4.66
27.2
2.7
0.109
584.3
150.8
75.3
177.3
2,315.5
0
Small_molecule
null
null
null
Supportive_metabolic
14.25
11.74
323,788
Fully_covered
0
0
7.83
1
11,093
Intermediate
0.372
0.769
0
0
Responder
0
null
0
0
Moderate
7
31
2
0
0
Wheelchair
AAC_device
0
0
Home_school_medical
1
6
0
null
null
0
63.7
14.7
12.6
1
24,482
6
3,849
45.3
50.2
78.5
63
44.6
65.5
0
0
0
1
0
0
0
27.5
9
1
0
0
0
0
0
1
0
HCG5-0000039
Female
White_non_Hispanic
Europe
Suburban
Middle
Spanish
Medicaid
MLD
LD
512
250,100
AR
9.45
0.7
0.009
0.009
0
0
1
14
4
0
1
1
3.2
WES
0.86
0
4,500
1
NBS_followup
6,862.66
6.52
Profound_delay
26.2
49.5
10
46.2
57.2
0
0
0
0.43
1
0
null
1
77.5
1
0
0
1
1
0
1
0
0
-3.91
-1.47
0
0
0
0
200.95
30.11
23.874
1.18
4.05
275.3
3.04
0.21
46.5
135.3
128.7
852.7
8,778.5
1
Supportive_only
null
null
null
null
null
6.83
0
Fully_covered
0
0
6.36
0
1,192
Intermediate
0.306
null
1
0
Not_applicable
0
null
0
0
Rapid
11
23
0
1
0
Bedbound
Nonverbal
1
1
Home_school_medical
1
4
1
11.06
Metabolic_crisis
1
50
8
13.6
0
0
3.2
2,088
54.6
65.6
29.2
52.1
62.9
51.8
0
0
0
0
0
0
1
5.1
4
1
1
0
0
0
0
3
3.3
HCG5-0000040
Female
White_non_Hispanic
Asia_Pacific
Urban
Middle
English
TRICARE
ASS1_citrullinemia
UCD
247,525
215,700
AR
5.21
0.4
0.233
1.255
1.021
0
5
11
3
0
0
0
null
Panel
7.35
0
1,500
1
Neurologist
36,970.54
6.82
Delayed
46.8
50.1
80.8
84.7
69.5
0
0
0
2.14
6
1
Mild
0
124
0
0
0
1
1
0
0
0
0
-2.79
0.01
1
0
0
0
149.35
17.345
14.583
4.97
2.31
95.5
1.45
0.263
320
303.6
26
127.5
1,225.2
1
SRT
null
null
null
null
8.98
5.06
230,607
Fully_covered
0
0
8.97
0
2,389
Low_value
0.269
0.745
0
0
Partial
0
null
0
0
Moderate
0
19
2
0
0
Assisted
Limited_verbal
0
0
Special_ed
1
6
1
12.03
Other
0
35
8.3
17.2
0
0
5.5
42,620
56.4
29.9
36.4
62.5
58.1
43.9
0
0
0
1
0
0
1
663
4
1
0
1
0
0
0
0
4.19
HCG5-0000041
Male
Hispanic
North_America
Suburban
Middle
Other
Commercial
WAS_Wiskott
IMM
906
301,000
XLR
7.41
0.55
0.484
3.722
3.238
4
13
21
1
1
0
0
null
WES
39.45
0
4,500
1
Metabolic_specialist
24,417.92
5.03
Regression
64
69.1
43.2
34.8
69.9
0
1
1
1.97
6
0
null
1
70.7
0
0
0
0
0
0
0
0
0
-1.98
1.24
0
0
0
0
78.82
4.131
5.49
7.05
9.18
97.7
1.19
0.233
52.6
688.4
10
98.1
2,208.8
1
Supportive_only
null
null
null
null
null
9.05
0
Prior_auth_required
0
0
14.27
0
773
High_value
0.594
null
0
0
Not_applicable
1
MSD
0
1
Moderate
2
20
0
0
0
Wheelchair
AAC_device
0
0
Mainstream
1
5
1
13.64
Respiratory_failure
0
23.9
10.4
7.6
0
0
3.7
11,103
50.2
41.8
57
44.2
43.6
66.8
0
1
1
0
0
0
1
94.1
28
1
0
0
0
0
0
2
0
HCG5-0000042
Male
Black_non_Hispanic
North_America
Suburban
Low
Spanish
TRICARE
X_ALD
LD
43
300,100
XLR
8.36
0.55
0.018
0.018
0
0
2
9
4
0
1
1
6.5
WES
0.34
0
4,500
1
NBS_followup
23,957.26
4.38
Profound_delay
62.5
16.3
10.7
47.2
42.5
0
0
1
0.67
2
0
null
1
46.3
0
0
0
1
0
0
1
0
0
-1.32
-1.46
0
0
0
0
157.94
19.862
13.361
3.57
1.22
20
1.52
0.187
435.1
256.6
18.4
1,712.6
3,793.8
1
Supportive_only
null
null
null
null
null
16.94
0
Fully_covered
0
0
7.45
0
5,746
Intermediate
0.241
null
0
0
Not_applicable
1
MMUD
0
1
Slow_progression
6
31
1
0
1
Bedbound
Nonverbal
1
0
Special_ed
1
1
1
5.19
Metabolic_crisis
1
56
17.7
13.1
1
28,300
5.2
9,663
34.3
20.2
56.7
51.7
23.4
75.7
0
0
1
1
0
0
1
125.5
14
0
1
0
1
0
0
11
4.02
HCG5-0000043
Female
Hispanic
North_America
Rural
Low
English
Medicaid
MMA
OA
27
251,000
AR
7.73
0.45
0.014
0.014
0
0
4
7
1
0
1
1
5
Single_gene
0.7
1
800
1
NBS_followup
43,000.34
7.63
Regression
60.7
46
35.2
59.4
37.8
0
1
0
2.78
6
0
null
0
66.7
0
0
0
0
1
0
1
0
0
0
-1.14
1
1
1
0
131.27
10.112
4.626
1.31
1.12
41.9
2.68
0.138
139.8
261.7
26.9
245.4
5,022.4
0
Small_molecule
null
null
null
Supportive_metabolic
0.1
17.84
255,724
Fully_covered
0
0
7.34
0
2,906
High_value
0.375
0.636
0
0
Non_responder
0
null
0
0
Rapid
4
35
2
0
0
Wheelchair
AAC_device
0
0
Special_ed
1
3
0
null
null
0
68.8
9.3
14
1
21,720
5.7
7,015
71.5
32.1
45.3
57.1
60.7
42.7
0
0
1
1
0
0
0
349.4
2
1
0
0
1
0
0
15
0.22
HCG5-0000044
Male
White_non_Hispanic
Europe
Rural
Middle
Spanish
Medicaid
WAS_Wiskott
IMM
906
301,000
XLR
6.97
0.55
0.474
4.638
4.165
6
13
10
0
1
0
0
null
Panel
26.22
0
1,500
1
Geneticist
48,760.47
6.38
Regression
51
35.1
46.8
79.2
69
0
0
1
2.62
7
0
null
1
67.5
1
0
0
0
1
0
1
0
0
-2.37
-0.59
0
0
0
0
63.95
77.715
35.723
15.9
18.27
20
1.92
0.174
93.2
224.5
66.2
313.3
525.9
1
Chaperone
null
null
null
null
5.14
11.68
441,337
Partial_coverage
0
0
4.86
0
2,622
Cost_saving
0.413
0.887
0
0
Partial
0
null
0
0
Slow_progression
9
41
4
0
0
Wheelchair
AAC_device
0
0
Mainstream
1
1
1
11.79
Other
0
52.3
12.5
21
0
0
8.6
3,058
61.5
33.6
58.1
70.6
22.9
76.9
1
0
0
0
0
0
0
62.7
10
0
0
0
1
1
1
2
5.27
HCG5-0000045
Male
White_non_Hispanic
North_America
Urban
Middle
Other
Medicaid_CHIP
SCID
IMM
183
300,400
XLR
9.42
0.92
0.218
2.416
2.197
2
13
14
2
0
1
0
null
WES
3.22
0
4,500
0
Metabolic_specialist
23,274.14
4.6
Profound_delay
10
25.3
34.3
89.6
34.5
0
0
0
0.65
1
1
Mild
1
45.6
1
0
0
1
0
0
0
0
0
-1.76
-1.69
0
0
0
0
196.98
6.503
6.21
6.2
1.53
20
2.59
0.157
31.4
191.5
30.1
446.6
2,710.4
1
Small_molecule
null
null
null
Supportive_metabolic
2.79
14.69
267,980
Partial_coverage
0
0
1.3
1
1,031
Intermediate
0.116
0.743
0
0
Responder
0
null
0
0
Slow_progression
2
17
0
1
0
Bedbound
Nonverbal
1
1
Special_ed
1
6
1
6.01
Neurodegeneration
1
55.1
12.5
13.9
1
76,471
6.7
4,613
32
52.2
38.6
63.8
70.5
40
0
0
1
1
0
0
0
24.6
31
0
1
0
0
0
1
6
4.24
HCG5-0000046
Male
White_non_Hispanic
North_America
Urban
High
English
Medicaid_CHIP
GA_1
OA
25
231,670
AR
8.74
0.4
0.013
0.013
0
0
2
9
5
1
1
1
4.8
WES
6.51
0
4,500
1
NBS_followup
9,794.71
7.58
Profound_delay
69.8
82.4
39.3
50.9
81.4
0
0
1
2.05
5
0
null
0
79.6
0
0
0
0
0
0
0
0
1
-4.04
0.27
1
1
1
0
1,108.02
66.854
7.281
17.75
7.88
20
1.2
0.174
219.1
231.1
44.8
91.7
2,093.6
0
Supportive_only
null
null
null
null
null
2.96
0
Prior_auth_required
0
0
6.89
0
16
Intermediate
0.219
null
0
0
Not_applicable
0
null
0
0
Slow_progression
10
46
4
0
0
Bedbound
Nonverbal
1
0
Special_ed
0
6
1
9.77
Respiratory_failure
1
52.7
13.3
5.4
1
26,363
4.6
31,614
50.3
25.8
77.7
76.4
45.4
55.4
1
0
1
1
0
0
0
145.2
11
1
0
1
0
0
0
2
0.81
HCG5-0000047
Male
Hispanic
Asia_Pacific
Urban
Low
Spanish
Other_public
MMA
OA
27
251,000
AR
7.37
0.45
0.01
0.023
0.013
0
4
11
0
0
1
1
8.5
WGS
0.89
1
8,500
1
NBS_followup
15,142.67
3.65
Regression
16.9
26.4
77.2
39.5
58.7
0
0
0
1.48
4
0
null
0
83.1
0
0
0
1
1
0
1
0
0
-1.4
0.32
1
1
0
0
156.09
18.899
25.327
8.12
11.48
33.8
2.22
0.24
61
419.6
29.3
151.1
2,447.4
0
Supportive_only
null
null
null
null
null
5.98
0
Fully_covered
0
0
2.14
0
3,755
Intermediate
0.413
null
0
0
Not_applicable
0
null
0
0
Rapid
5
31
5
1
0
Wheelchair
AAC_device
1
0
Special_ed
1
4
0
null
null
1
60.8
8.6
17.7
1
41,733
6
3,021
46
70.7
95.6
39
23.8
64.7
0
0
0
1
0
1
0
41.7
8
1
1
0
1
0
0
5
3.55
HCG5-0000048
Female
Hispanic
North_America
Urban
Low
Other
Medicaid
MLD
LD
512
250,100
AR
5.81
0.7
0.008
0.008
0
0
1
16
7
0
1
1
2.9
Panel
2.64
0
1,500
1
NBS_followup
45,545.52
4.01
Delayed
72.8
48.4
32.2
39.5
36.1
0
1
1
3.7
2
0
null
0
107.4
0
0
1
0
0
0
0
0
0
-2.89
-4.75
0
0
0
0
42.05
31.995
6.498
13.39
4.01
69.4
5.14
0.158
41.3
285.5
40.9
120.8
1,919.1
1
Supportive_only
null
null
null
null
null
20.86
0
Fully_covered
0
0
4.02
0
806
Intermediate
0.406
null
0
0
Not_applicable
0
null
0
0
Moderate
0
20
1
0
0
Assisted
Limited_verbal
1
1
Home_school_medical
1
0
1
4.39
Metabolic_crisis
1
63.8
11.5
8.2
0
0
6.3
23,514
45.6
76.5
80.4
60.8
17.1
0
0
1
1
1
0
0
1
7.3
5
1
0
0
1
0
0
0
1.4
HCG5-0000049
Male
White_non_Hispanic
North_America
Urban
Low
English
Commercial
Pompe_infantile
LSD
365
232,300
AR
10
0.85
0.003
0.003
0
0
1
9
1
0
1
1
1
WGS
2.64
0
8,500
1
NBS_followup
30,417.17
7.22
Profound_delay
73
47.7
26.8
17.8
29.1
0
0
1
0.59
3
1
Severe
1
94.7
1
1
1
1
0
0
1
1
1
-2.17
0.62
0
1
0
0
787.25
6.411
10.003
11.36
1.5
144.6
2.72
0.079
305.9
279.1
42.7
352.6
10,025.3
1
Gene_therapy
null
Clinical_trial
null
null
0.45
3.99
74,872
Fully_covered
0
0
3.07
0
792
Intermediate
0.278
0.632
0
0
Responder
0
null
0
0
Stable
1
8
2
1
0
Bedbound
Nonverbal
1
1
Home_school_medical
1
5
1
8.54
Respiratory_failure
1
9.6
7.1
7.2
0
0
5.9
8,511
47.6
49.2
26.2
44.8
32.7
37.4
0
1
0
0
0
0
0
284.9
14
1
0
0
0
0
0
5
0.19
HCG5-0000050
Male
Hispanic
North_America
Rural
Middle
Other
Commercial
MPS_II_Hunter
LSD
580
309,900
XLR
8.48
0.72
0.871
5.434
4.562
0
9
11
1
0
0
0
null
Panel
9.47
0
1,500
1
Geneticist
16,402.95
5.7
Profound_delay
47.6
38.5
22.2
30.2
28.8
0
0
1
3.12
0
0
null
1
77.6
1
0
1
1
1
0
0
1
1
-1.23
-0.2
0
0
0
1
637.22
16.812
1.134
2.6
5.85
135.4
2.82
0.228
783
266.9
28.7
366.2
741.9
1
ERT
Idursulfase
null
null
null
6.84
11.65
25,714
Partial_coverage
0
0
3.5
1
51,763
High_value
0.415
0.466
0
0
Partial
0
null
0
0
Rapid
3
34
5
0
0
Bedbound
Nonverbal
1
0
Mainstream
1
1
1
12.51
Respiratory_failure
1
44.3
13.3
17.8
0
0
5.8
8,556
78.9
16.7
63.7
68.4
35.9
44.9
1
0
0
1
0
1
0
16.1
16
1
1
0
0
0
0
3
1.58
HCG5-0000051
Male
White_non_Hispanic
Europe
Urban
Middle
English
Commercial
Gaucher_type1
LSD
355
230,800
AR
4.96
0.05
1.013
4.316
3.303
5
20
17
1
1
0
0
null
Single_gene
6.83
1
800
0
Other
13,280.5
7.29
Delayed
73
72.2
91.7
12.6
94.8
0
0
1
2.48
3
0
null
1
55.2
1
1
1
0
1
0
0
1
1
-1.18
0.01
0
0
1
0
759.4
12.205
9.113
2.98
11.62
55.1
2.83
0.194
392.8
411
79.4
126.4
699.2
1
ERT
Taliglucerase
null
null
null
5.05
10.56
268,017
Fully_covered
0
0
3.71
1
4,990
High_value
0.468
0.67
0
0
Partial
0
null
0
0
Stable
9
32
2
0
0
Assisted
Limited_verbal
1
0
Mainstream
1
1
0
null
null
0
37.3
12.3
10.9
1
147,067
5.1
1,130
42
78.8
51.2
27.7
62.6
53.2
0
0
1
1
0
0
1
23.8
15
0
0
1
0
0
0
4
3.17
HCG5-0000052
Male
White_non_Hispanic
North_America
Urban
Middle
Spanish
Medicaid
Hypophosphatasia
SKEL
436
241,500
AR
4.62
0.25
1.848
7.528
5.68
4
10
12
1
0
0
0
null
WES
10.56
0
4,500
0
Geneticist
46,912.55
2.28
Delayed
76.8
98.5
55.8
57.1
90.2
0
0
1
3.77
0
0
null
0
68.2
0
0
0
0
0
0
1
0
1
-3.54
1.49
1
0
0
0
173.78
147.366
20.798
3.18
4.52
39.6
1.64
0.176
43.9
443.7
117.5
2,276.8
795.5
1
Gene_therapy
null
Clinical_trial
null
null
7.95
8.8
250,295
Partial_coverage
0
0
10.35
1
2,021
Low_value
0.526
0.743
0
0
Non_responder
0
null
0
0
Stable
14
8
0
0
0
Assisted
Limited_verbal
1
0
Mainstream
1
0
0
null
null
0
48.3
12.8
9.2
0
0
6.2
9,183
68.6
42.5
51.8
81.7
30.8
48.7
0
0
0
1
0
1
1
126.5
2
1
1
0
0
0
0
4
1.93
HCG5-0000053
Female
White_non_Hispanic
North_America
Suburban
High
Mandarin
Commercial
Myotonic_congenital
NM
590
160,900
AD
5.14
0.1
2.34
7.39
5.05
1
5
20
3
1
0
0
null
Panel
22.48
0
1,500
1
Geneticist
22,037.76
7.75
Delayed
70.1
80.6
56.8
80.2
68.8
0
0
1
0.63
1
0
null
0
102.7
0
0
1
0
0
0
0
0
0
-0.84
-3.26
0
0
0
0
82.8
11.936
6.933
2.07
1.7
23.2
5.92
0.103
207.7
143.4
20
237.4
1,352.6
0
HSCT
null
null
null
null
7.77
21.05
427,656
Partial_coverage
0
0
9.02
0
11,220
Intermediate
0.54
0.615
0
0
Non_responder
0
null
0
0
Slow_progression
2
8
0
1
0
Assisted
Limited_verbal
0
0
Home_school_medical
0
0
0
null
null
0
40.6
15.9
18.7
1
60,361
6.1
5,628
72.5
42.8
75.3
65
69.4
9.6
0
0
0
1
0
0
0
5.9
10
1
0
0
0
0
0
0
0
HCG5-0000054
Male
White_non_Hispanic
North_America
Urban
Low
Spanish
Medicaid
X_ALD
LD
43
300,100
XLR
6.45
0.55
0.007
0.007
0
0
1
18
3
0
1
1
2.4
Single_gene
0.41
0
800
1
NBS_followup
52,968.1
6.74
Regression
100.4
51.1
76.9
59.5
69
0
0
0
3.05
8
0
null
0
124.6
0
0
0
0
0
0
1
1
0
-1.85
-2.41
0
0
0
0
74.22
62.68
20.153
18.4
4.37
25.9
2.76
0.118
553.7
249.6
52
274
2,424.3
1
Supportive_only
null
null
null
null
null
12.81
0
Fully_covered
0
0
7.39
0
1,354
Intermediate
0.638
null
0
0
Not_applicable
1
MSD
0
1
Slow_progression
1
6
1
0
0
Wheelchair
AAC_device
0
0
Mainstream
1
6
1
8.99
Respiratory_failure
0
53.4
23.8
8
0
0
6.6
1,196
62.7
55.9
61.3
79.8
0
43.8
0
1
1
1
0
1
0
59.4
22
1
1
0
1
1
0
0
4.43
HCG5-0000055
Male
Hispanic
Asia_Pacific
Urban
Middle
English
Commercial
Achondroplasia
SKEL
15
100,800
AD
2.54
0.04
0.041
0.116
0.075
0
9
9
3
0
0
0
null
Panel
3.31
0
1,500
1
Other
59,361.56
7.31
On_track
68.3
81.7
110
78.6
83.3
1
1
0
2.06
7
0
null
0
110.1
0
0
0
0
1
0
0
0
1
-0.28
-0.51
0
0
0
0
567.49
63.474
12.007
4.64
0.95
20
2.48
0.124
207.7
349.1
16.4
1,072.6
1,145.8
0
Supportive_only
null
null
null
null
null
2.67
0
Fully_covered
0
0
19.86
0
1,318
Intermediate
0.439
null
0
0
Not_applicable
0
null
0
0
Moderate
4
53
2
1
0
Ambulatory
Verbal
0
0
Special_ed
1
0
0
null
null
0
48.7
1.8
7
1
14,003
6.8
6,259
80.1
40.2
69.2
65.3
60.4
21.9
0
0
0
1
0
0
1
70.7
13
0
0
0
0
0
0
1
0
HCG5-0000056
Male
Asian
Latin_America
Rural
Low
Spanish
Medicaid_CHIP
Leigh_syndrome
MITO
506
256,000
MT
8.34
0.68
0.808
11.699
10.89
2
13
20
1
0
0
0
null
WGS
48.63
0
8,500
1
Neurologist
20,301.38
7.97
Profound_delay
28.4
58.4
72.6
15
70.6
0
0
1
5.31
0
1
Moderate
0
92.6
0
0
1
0
0
0
1
1
1
-0.05
-4.11
1
0
0
0
903.14
61.889
32.429
6.47
1.38
20.1
3.36
0.131
361.6
454.6
13.1
93.5
4,945.9
0
Supportive_only
null
null
null
null
null
17.6
0
Prior_auth_required
0
0
36
0
345
Cost_saving
0.17
null
0
0
Not_applicable
0
null
0
0
Slow_progression
3
25
1
0
0
Bedbound
Nonverbal
1
1
Mainstream
1
3
1
17.65
Metabolic_crisis
0
21.8
11.3
13.6
0
0
6.8
3,922
47.9
64.9
56.3
48
28.2
41.7
0
0
1
1
0
0
1
173.6
8
1
1
0
1
0
0
8
3.79
HCG5-0000057
Male
White_non_Hispanic
Europe
Urban
Low
English
Uninsured
SMA_type2
NM
83,418
253,550
AR
6.36
0.25
0.008
0.008
0
0
1
11
1
0
1
1
2.8
MLPA
0.53
0
1,000
1
NBS_followup
63,239.4
5.43
Regression
52.8
72.7
21
78.6
74.6
1
0
0
1.78
8
0
null
1
44.2
1
0
0
1
0
0
0
0
0
0.13
-0.74
0
0
0
0
72.21
13.007
6.287
1.55
2.63
60.1
3.91
0.136
144.8
389.1
92.3
138
1,801.7
1
Supportive_only
null
null
null
null
null
5.71
0
Partial_coverage
0
0
10.56
0
2,145
Intermediate
0.367
null
0
0
Not_applicable
0
null
0
0
Rapid
3
21
1
0
0
Wheelchair
AAC_device
0
0
Special_ed
1
4
0
null
null
0
16.6
7.4
0
0
0
5.9
7,824
63
61.8
42.3
42.8
51.1
44.4
0
0
1
1
0
0
1
104.1
24
1
0
0
0
0
0
0
0.49
HCG5-0000058
Female
Black_non_Hispanic
Europe
Urban
Middle
English
Commercial
Pompe_infantile
LSD
365
232,300
AR
8.44
0.85
0.018
0.018
0
0
3
14
1
0
1
1
6.7
Metabolic
1.57
0
900
1
NBS_followup
30,472.16
4.19
Profound_delay
76.5
48.1
51.1
54.9
66.5
0
0
0
3.81
8
1
Moderate
1
62.6
1
1
0
0
0
0
1
0
1
-3.51
0.95
1
0
1
0
14.58
112.664
9.802
8.63
3.51
316.2
1.05
0.103
154.2
550.8
182.2
335
1,641.9
1
ASO
null
null
Custom_ASO
null
1.43
2.22
210,390
Partial_coverage
0
0
15.14
1
10,061
Low_value
0.192
0.799
0
0
Responder
0
null
0
0
Stable
1
14
1
0
0
Bedbound
Nonverbal
1
1
Mainstream_with_support
0
4
0
null
null
0
59.3
15.4
11.9
1
35,622
5.6
2,556
51.1
99.1
35.9
43.3
70.4
55
0
0
0
1
0
1
1
119.1
8
1
0
0
0
0
0
10
0.71
HCG5-0000059
Male
Hispanic
Latin_America
Urban
Low
English
Commercial
Fabry
LSD
324
301,500
XLR
5.89
0.04
2.367
7.271
4.904
4
7
13
2
1
0
0
null
Panel
9.01
0
1,500
1
Cardiologist
34,234.27
6.5
Delayed
51.3
70.3
64.5
61.5
61.6
0
0
0
4.11
1
1
Mild
0
113.4
0
0
1
0
1
1
1
1
0
-1.32
0.23
0
0
1
0
178.08
135.77
3.246
3.23
1.13
29.7
2.3
0.391
110.9
180.2
35.5
48.3
478.1
1
ERT
Agalsidase_alfa
null
null
null
8.08
22.57
71,319
Fully_covered
0
0
8.6
1
1,159
Intermediate
0.572
0.651
0
0
Non_responder
0
null
0
0
Slow_progression
2
4
3
0
0
Assisted
Limited_verbal
0
0
Mainstream_with_support
0
5
0
null
null
0
35.1
17
10.9
1
25,625
6.7
2,175
32.2
53.3
54.9
16.4
70.2
42.4
0
0
1
0
0
1
1
143.8
12
0
0
0
1
1
0
0
4.9
HCG5-0000060
Male
Native_American
Sub_Saharan_Africa
Rural
Middle
English
Commercial
MLD
LD
512
250,100
AR
8.81
0.7
0.024
0.024
0
0
3
17
4
0
1
1
8.8
WES
0.94
0
4,500
1
NBS_followup
3,752.31
5.63
Profound_delay
50.5
52.3
37.3
10
35
0
0
1
2.14
2
0
null
0
93.1
0
0
1
1
0
1
1
1
0
-3.69
-0.27
0
0
0
0
73.39
30.889
11.214
12.29
4.16
20
8.51
0.301
510
449.3
161.3
188.4
11,171.2
1
ASO
null
null
Custom_ASO
null
0.14
2.71
1,038,811
Fully_covered
0
0
11.98
1
190
High_value
0.667
0.639
0
0
Responder
0
null
0
0
Slow_progression
1
23
4
1
0
Bedbound
Nonverbal
0
1
Special_ed
1
5
1
10.65
Neurodegeneration
1
73.1
6.4
6.9
1
36,237
4.8
6,601
29.2
35.9
50.7
47.3
50.3
52.4
1
0
0
1
0
1
0
268.9
24
0
0
0
0
0
1
1
2.55
HCG5-0000061
Male
Black_non_Hispanic
Europe
Urban
Middle
English
Commercial
Leigh_syndrome
MITO
506
256,000
MT
7.91
0.68
0.172
1.415
1.242
8
16
7
3
1
0
0
null
WGS
46.08
0
8,500
1
Geneticist
11,228.05
7.97
Regression
67.9
49.2
46.1
39.3
68.8
0
0
1
2.63
3
1
Severe
1
52.7
0
0
1
1
1
1
1
0
0
-0.24
-0.77
0
0
0
0
89.37
14.602
8.336
2.59
5.31
142.2
6.01
0.185
550.1
1,018.1
28.4
2,335.5
1,724.3
0
Supportive_only
null
null
null
null
null
6.75
0
Fully_covered
0
0
1.55
0
3,060
Intermediate
0.419
null
0
0
Not_applicable
0
null
0
0
Stable
3
10
0
1
0
Wheelchair
AAC_device
1
0
Special_ed
0
1
1
7.79
Infection
1
60.3
15.3
10.9
1
53,014
2.8
4,043
69.2
81.4
64.1
42
74.5
42.5
0
0
1
0
0
0
0
32.3
5
1
0
0
0
0
0
1
0.96
HCG5-0000062
Female
White_non_Hispanic
Latin_America
Urban
Middle
English
TRICARE
SMA_type1
NM
83,330
253,300
AR
8.75
0.9
0.015
0.021
0.006
0
4
13
1
0
1
1
7.7
Panel
1.01
0
1,500
1
NBS_followup
11,789.62
6.04
Profound_delay
57.1
34.2
65.7
51.3
83.4
0
1
0
6.85
1
0
null
1
39.9
0
0
0
1
0
0
0
0
0
-0.07
-1.08
0
0
0
0
142.85
10.231
28.908
13.01
2.74
20
2.09
0.163
125.7
373.9
37.9
1,829.7
9,293.8
1
Small_molecule
null
null
null
Supportive_metabolic
0.18
13.77
1,783,018
Prior_auth_required
0
0
0.59
0
6,502
Low_value
0.629
0.697
0
0
Responder
0
null
0
0
Stable
0
16
1
0
0
Bedbound
Nonverbal
1
1
Special_ed
1
4
0
null
null
0
24
18.8
12.5
1
18,235
3.7
4,283
39.9
1.4
71.4
52.5
73.2
57.1
0
0
0
1
1
1
0
17.9
12
1
0
0
0
0
1
0
1.65
HCG5-0000063
Female
Black_non_Hispanic
Latin_America
Urban
Middle
Other
Medicaid
Achondroplasia
SKEL
15
100,800
AD
3.45
0.04
0.054
1.921
1.866
1
10
9
2
0
0
0
null
Panel
7.72
0
1,500
1
Neurologist
20,195.41
4.96
Delayed
95.9
92.7
97.6
77
104.3
0
0
0
2.9
4
0
null
0
125
0
0
0
0
0
0
1
0
1
-0.63
-1.18
0
0
0
0
273.11
33.94
6.943
9.51
0.48
157.7
3.44
0.343
605.4
381.5
143.7
656.5
970.4
0
Supportive_only
null
null
null
null
null
9.2
0
Fully_covered
0
0
1
0
2,631
Intermediate
0.617
null
0
0
Not_applicable
0
null
0
0
Stable
6
18
0
1
0
Ambulatory
Verbal
0
0
Not_enrolled
1
4
0
null
null
0
33.6
14.6
9.6
0
0
3.6
1,771
55.5
59.2
61.8
48.3
90.2
26.7
0
1
0
1
1
0
1
19
7
0
0
0
0
0
0
3
0
HCG5-0000064
Female
White_non_Hispanic
Asia_Pacific
Urban
Middle
English
Other_public
CMT_1A_1B
NM
101,081
118,220
AD
3.7
0.02
8.938
18
15
2
7
8
8
1
0
0
null
Panel
8.42
0
1,500
1
Geneticist
29,819.44
9.11
Delayed
101.5
82.6
92.9
79.6
113.3
0
0
0
3.25
2
0
null
0
68.4
0
0
0
1
0
0
0
0
0
-2.31
-0.03
0
0
0
0
83.02
23.533
8.32
3.09
3.65
20
1.83
0.316
44.2
473.3
23.6
898.8
4,149
0
Small_molecule
null
null
null
Supportive_metabolic
18
5.02
61,314
Fully_covered
0
0
3.81
0
2,877
High_value
0.475
0.758
0
0
Non_responder
0
null
0
0
Stable
7
21
0
1
0
Ambulatory
Verbal
0
1
Mainstream_with_support
0
1
0
null
null
0
48.3
10.1
14
0
0
6.5
5,668
74.5
51.2
68
68.8
42.4
46.7
0
0
0
1
0
0
1
106.3
3
1
0
0
0
0
0
2
0
HCG5-0000065
Female
Other_Multi
Europe
Rural
Middle
English
Commercial
SMA_type1
NM
83,330
253,300
AR
10
0.9
0.505
3.246
2.74
2
9
8
0
1
1
0
null
WES
6.66
0
4,500
1
Geneticist
30,937.53
3.29
Profound_delay
40.5
10
34.3
48
45.6
1
0
0
3.73
5
0
null
1
33.4
1
0
0
1
0
0
0
1
0
-1.15
-2.88
0
0
0
0
207.7
26.166
6.635
13.93
17
91.8
2.75
0.123
199.3
277.9
84.9
421
1,030.1
1
ASO
null
null
Nusinersen
null
3.94
3.34
129,372
Denied
1
1
22.88
0
10,382
Low_value
0.515
0.817
0
0
Partial
0
null
0
0
Slow_progression
6
21
1
0
1
Bedbound
Nonverbal
0
1
Not_enrolled
1
3
1
12.92
Infection
0
43.8
18.1
12.8
0
0
6
11,396
42.8
59.6
69.5
45.3
56.4
34.5
1
0
1
0
0
0
0
38.9
6
1
0
0
0
0
0
7
0
HCG5-0000066
Female
White_non_Hispanic
North_America
Urban
Low
English
Commercial
SMA_type1
NM
83,330
253,300
AR
8.25
0.9
0.013
0.013
0
0
3
8
1
1
1
1
4.6
WES
0.56
0
4,500
1
NBS_followup
34,793.03
4.65
Profound_delay
38.2
33.2
89.9
49.3
30.8
0
0
0
2.85
8
0
null
1
58.6
0
0
0
0
0
0
0
0
1
-2.46
1.94
0
0
0
0
159.79
6.599
12.484
11.24
5.01
20
1.69
0.183
48.2
227.4
35
152.2
11,148.3
1
Supportive_only
null
null
null
null
null
4.32
0
Partial_coverage
0
0
8.41
0
324
Intermediate
0.591
null
0
0
Not_applicable
0
null
0
0
Stable
3
14
1
1
0
Bedbound
Nonverbal
1
0
Home_school_medical
1
4
1
15.96
Respiratory_failure
0
46.2
11.9
10.2
1
30,354
6.7
7,899
62.2
100
50.7
15.2
61.2
45
0
0
1
1
1
0
1
27.5
11
0
0
0
1
0
0
1
3.36
HCG5-0000067
Male
Hispanic
North_America
Rural
Low
English
Medicaid_CHIP
MMA
OA
27
251,000
AR
9.25
0.45
0.006
0.006
0
0
3
10
3
0
1
1
2.1
Panel
0.67
0
1,500
0
NBS_followup
14,523.89
7.48
Profound_delay
42.5
33.5
26.8
52.2
27
0
0
0
1.82
4
0
null
0
83.6
1
0
0
1
0
0
1
0
0
-1.78
-1.58
1
1
0
0
18.08
22.866
72.942
6.63
3.37
57.4
1.67
0.154
62.9
375.8
27
1,492.1
5,545.7
0
Small_molecule
null
null
null
Supportive_metabolic
0.18
3.05
931,776
Fully_covered
0
0
4.7
0
2,077
Cost_saving
0.169
0.457
0
0
Responder
0
null
0
0
Slow_progression
2
6
4
0
0
Bedbound
Nonverbal
1
0
Mainstream
1
4
0
null
null
0
33.9
19.2
14.8
1
199,522
6.4
4,152
45
23.8
61.7
50.5
42.1
55.5
0
1
0
1
0
0
0
174.1
6
1
0
0
1
0
0
3
1.81
HCG5-0000068
Male
White_non_Hispanic
Europe
Urban
Middle
Spanish
Commercial
Gaucher_type1
LSD
355
230,800
AR
5.7
0.05
4.438
9.087
4.649
1
15
16
0
0
0
0
null
Single_gene
58.16
0
800
1
Metabolic_specialist
50,122.57
7.77
Delayed
56.8
60.8
26.2
46.9
97.3
1
0
0
3.62
2
0
null
0
110.5
0
0
1
0
0
0
1
1
1
-1.91
0.49
1
1
1
0
312.62
62.145
0.523
2.02
2.37
676.1
1.56
0.148
47.5
159.7
31.3
86.2
4,228.2
1
ERT
Imiglucerase
null
null
null
10.35
8.68
496,286
Fully_covered
0
0
11.16
1
623
High_value
0.465
0.735
1
0
Non_responder
0
null
0
0
Moderate
1
14
2
0
0
Assisted
Limited_verbal
0
1
Mainstream_with_support
1
4
0
null
null
0
51.4
14.8
11.8
1
48,340
7
1,162
37.2
71
64.7
73.8
73.5
35
1
0
1
1
1
0
1
100.3
18
0
1
1
0
0
0
4
2.85
HCG5-0000069
Female
White_non_Hispanic
Europe
Urban
High
English
Medicaid
ASS1_citrullinemia
UCD
247,525
215,700
AR
4.21
0.4
0.174
0.939
0.765
1
7
8
2
1
0
0
null
WGS
22.45
0
8,500
1
NBS_followup
137,085.43
6.83
Delayed
118
96.7
64.9
49.4
34.6
0
0
1
5.4
4
0
null
0
111.3
0
0
0
0
0
0
0
0
1
-4.2
-0.27
1
0
0
0
115.47
46.232
11.669
8.5
5.58
20
6.11
0.155
111.4
445
10
710
875.9
1
Supportive_only
null
null
null
null
null
5.47
0
Fully_covered
0
0
9.19
0
4,091
Intermediate
0.52
null
0
0
Not_applicable
0
null
0
0
Moderate
6
50
3
0
0
Assisted
Limited_verbal
1
0
Mainstream_with_support
0
1
0
null
null
0
45.6
11.1
21
1
20,335
7.2
2,561
77.8
80.2
57.5
78.6
55.3
46.1
1
0
1
1
0
0
1
301.4
6
1
0
0
0
0
0
9
0
HCG5-0000070
Male
Hispanic
Europe
Rural
Low
English
Commercial
MPS_II_Hunter
LSD
580
309,900
XLR
8.1
0.72
2.244
9.993
7.748
2
7
18
0
0
0
0
null
WES
7.81
1
4,500
1
Geneticist
19,574.98
5.88
Profound_delay
37.7
110.6
44.5
56.4
86.1
0
0
0
3.78
8
0
null
1
28.3
0
0
0
1
1
0
1
0
0
-2.77
-2.25
1
0
0
1
51.22
15.291
35.056
4.72
4.01
20
1.67
0.16
514.8
484.1
108.1
139.8
12,169.2
1
Chaperone
null
null
null
null
11.91
2.19
927,260
Partial_coverage
0
0
1.97
1
2,526
Intermediate
0.162
0.753
0
0
Non_responder
0
null
0
0
Moderate
1
4
1
0
0
Bedbound
Nonverbal
1
0
Special_ed
1
5
1
15.06
Metabolic_crisis
0
59.1
5.9
16.1
0
0
6.9
2,852
34.9
67
31.7
34.3
12
45.5
1
0
1
1
0
1
1
72.6
3
1
0
0
0
0
0
0
2.09
HCG5-0000071
Male
Black_non_Hispanic
Europe
Urban
Middle
Other
Medicaid
OTC
UCD
664
311,250
XLR
9.25
0.52
0.61
2.801
2.191
0
13
13
1
0
0
0
null
Panel
29.42
1
1,500
1
NBS_followup
14,804.68
5.97
Profound_delay
48.6
10
62.6
52.8
29
0
1
0
4.65
4
0
null
0
71.4
0
0
0
1
1
0
0
1
0
0.93
1.67
1
0
0
0
87.71
20.123
7.667
4.66
6.28
40.8
4.42
0.18
222.7
163.7
52.4
149.3
13,876.8
1
HSCT
null
null
null
null
3.17
7.26
218,519
Denied
1
0
10.2
0
3,732
Intermediate
0.764
0.659
0
0
Partial
0
null
0
0
Slow_progression
0
10
2
0
0
Bedbound
Nonverbal
1
1
Mainstream_with_support
1
1
1
18
Respiratory_failure
1
48.7
13.9
8.7
0
0
7
13,890
69.6
42.1
35.5
19.4
69.8
85
1
1
1
1
0
0
0
98.2
16
1
0
0
0
0
0
0
0.24
HCG5-0000072
Male
White_non_Hispanic
Europe
Urban
Middle
Mandarin
Medicaid
XLP
IMM
538
308,240
XLR
7.97
0.5
3.655
9.597
5.943
5
6
17
1
1
0
0
null
Panel
2.25
1
1,500
1
Metabolic_specialist
14,518.82
6.66
Regression
21.2
56.4
33.5
58.1
96.1
0
0
1
2.8
3
0
null
0
68.7
0
0
0
1
0
0
1
0
0
-1.9
1.33
0
0
0
0
222.06
5.921
19.576
4.75
1.24
309.7
1.72
0.18
121.4
396
40.3
442.5
1,236.9
0
Supportive_only
null
null
null
null
null
4.92
0
Fully_covered
0
0
14.14
0
1,484
High_value
0.617
null
0
0
Not_applicable
0
null
0
0
Rapid
0
4
3
0
0
Wheelchair
AAC_device
0
0
Mainstream_with_support
1
3
0
null
null
0
39.6
7
2.4
1
45,031
7.8
13,394
60.4
55.4
75.8
74.2
31.6
56.7
0
0
1
1
1
1
1
34.4
8
1
0
0
0
0
0
3
0.46
HCG5-0000073
Female
Asian
Asia_Pacific
Rural
High
Spanish
Medicaid_CHIP
MPS_III_Sanfilippo
LSD
581
252,900
AR
8.01
0.7
2.244
10.774
8.53
8
9
19
3
0
0
0
null
Metabolic
43.63
0
900
1
Other
29,054.28
7.65
Profound_delay
50.4
51.7
54.3
50.5
52
0
0
1
5.59
6
0
null
0
105.3
0
0
1
1
0
0
0
0
1
-1.61
-2.91
0
0
0
1
189.85
12.198
35.15
4.37
3.7
47
1.6
0.294
198.7
327.6
27.5
2,292.4
2,125.3
0
Supportive_only
null
null
null
null
null
13.4
0
Fully_covered
0
0
36
0
579
Intermediate
0.618
null
0
0
Not_applicable
0
null
0
0
Stable
0
29
0
0
0
Bedbound
Nonverbal
1
0
Special_ed
0
5
1
18
Respiratory_failure
1
50.3
6.9
7.6
1
24,315
8.3
8,196
40.6
22
25.3
60.6
6.4
59.1
1
1
1
1
0
1
0
5.2
12
1
0
0
0
0
0
0
0
HCG5-0000074
Female
Hispanic
North_America
Urban
Middle
Arabic
Medicaid
Gaucher_type1
LSD
355
230,800
AR
4.93
0.05
2.427
8.294
5.866
2
4
17
1
0
0
0
null
WES
40.25
1
4,500
0
Metabolic_specialist
16,761.05
8.84
Delayed
62.8
66
34.5
61.8
87.3
0
0
0
1.19
0
0
null
1
64.4
0
0
0
0
1
0
1
1
0
-1.81
-0.52
0
0
0
0
345.31
16.346
9.501
2.24
2.19
39
2.81
0.12
20.7
764.3
55.6
1,177.9
4,567.9
1
Small_molecule
null
null
null
Eliglustat
8.49
14.85
112,530
Fully_covered
0
0
6.22
0
8,530
High_value
0.494
0.744
0
0
Responder
0
null
0
0
Slow_progression
4
16
1
1
0
Assisted
Limited_verbal
0
0
Special_ed
1
6
1
18
Respiratory_failure
0
51
10.4
0
1
37,583
5.9
4,244
68.4
85.7
95.9
39.7
100
34.6
0
0
1
1
0
1
1
29.9
13
0
1
0
0
0
0
2
0
HCG5-0000075
Male
White_non_Hispanic
North_America
Urban
Middle
Other
Medicaid_CHIP
Niemann_Pick_C
LSD
646
257,220
AR
7.71
0.55
0.038
9.392
9.354
2
21
9
1
1
0
0
null
WES
103.17
1
4,500
1
NBS_followup
5,668.64
6.73
Regression
62
62.5
68.7
53.9
107.7
1
0
0
3.74
3
0
null
0
79.8
0
0
0
1
1
0
1
1
0
-2.29
-0.07
0
0
1
0
280.5
39.255
6.771
1.33
4.64
46.4
1.02
0.243
486
702.7
83
355.2
251.6
1
Supportive_only
null
null
null
null
null
43.65
0
Fully_covered
0
0
30.7
0
8,244
Low_value
0.249
null
0
0
Not_applicable
0
null
0
0
Slow_progression
4
24
2
1
0
Wheelchair
AAC_device
0
0
Special_ed
1
0
0
null
null
0
48.2
12.9
14.3
1
12,530
7.6
22,101
42.4
20.3
43.7
36.2
21.9
10.7
1
0
1
1
0
1
1
24
27
1
1
0
0
0
1
1
2.72
HCG5-0000076
Female
Black_non_Hispanic
Asia_Pacific
Rural
Middle
English
Commercial
MMA
OA
27
251,000
AR
8.42
0.45
0.011
0.011
0
0
5
12
2
0
1
1
3.8
WES
3.03
0
4,500
1
NBS_followup
7,251.21
4.47
Profound_delay
57.9
50.6
42.5
52.5
43.9
0
0
0
0.55
4
0
null
1
59.8
1
1
0
1
1
0
0
0
0
-1.76
-3.71
1
1
0
0
56.17
11.755
28.272
1.13
0.58
20
3.32
0.108
20
556
36.9
262.2
5,686.6
0
Supportive_only
null
null
null
null
null
20.34
0
Prior_auth_required
0
0
4.64
0
3,189
Intermediate
0.192
null
0
0
Not_applicable
0
null
0
0
Moderate
1
7
4
0
1
Bedbound
Nonverbal
1
0
Special_ed
0
6
1
9.72
Cardiac
0
65.9
6.4
9.7
0
0
5.1
11,260
35.2
20.3
21.5
52
58
41.7
1
0
1
0
0
0
1
12.2
21
1
0
0
0
0
0
5
0
HCG5-0000077
Female
White_non_Hispanic
Asia_Pacific
Urban
High
Spanish
Medicaid
Myotonic_congenital
NM
590
160,900
AD
3.8
0.1
0.378
4.381
4.003
4
8
14
1
1
0
0
null
Metabolic
17.07
0
900
0
Metabolic_specialist
67,384.56
7.39
Delayed
100.8
69.6
67.5
83.6
70.3
0
0
1
2.26
4
0
null
0
63.2
0
0
0
0
0
0
1
0
0
-2.29
-3.79
0
0
0
0
10
8.737
19.027
5.69
2.33
47
2.05
0.182
104.7
668.7
87.8
578
5,032.5
0
Supportive_only
null
null
null
null
null
3.01
0
Fully_covered
0
0
36
0
72
High_value
0.402
null
0
0
Not_applicable
0
null
0
0
Slow_progression
1
29
1
0
0
Ambulatory
Verbal
0
0
Special_ed
1
4
0
null
null
0
29.8
11.1
6.1
0
0
5.2
753
64.3
47.9
54.1
78.7
32.2
21.7
0
1
1
1
0
0
0
65.4
10
1
0
0
0
0
0
0
0
HCG5-0000078
Female
Black_non_Hispanic
Sub_Saharan_Africa
Urban
Low
Spanish
Commercial
SMA_type1
NM
83,330
253,300
AR
8.77
0.9
0.005
0.005
0
0
2
36
5
0
1
1
1.8
Panel
4.01
0
1,500
1
NBS_followup
85,273.13
4.93
Profound_delay
67
46.2
83.3
92.5
33.8
0
1
1
3.83
3
0
null
1
38.7
0
0
0
0
0
1
1
1
0
-4.54
-1.73
0
0
0
0
204.57
43.9
11.517
0.64
5.41
21.1
1.6
0.251
222.6
304.1
54.2
1,098.5
1,029.5
1
Supportive_only
null
null
null
null
null
0.91
0
Denied
0
0
3.91
0
944
High_value
0.545
null
0
0
Not_applicable
0
null
0
0
Stable
4
6
2
1
1
Bedbound
Nonverbal
0
1
Special_ed
1
1
1
6.53
Respiratory_failure
1
61.7
12.2
14.2
1
22,136
7.8
29,203
62.1
27.3
11.6
43.9
33.7
55.2
0
0
0
0
0
0
0
148.9
21
1
1
0
1
0
0
5
3.98
HCG5-0000079
Male
White_non_Hispanic
Latin_America
Urban
High
English
Medicaid
Achondroplasia
SKEL
15
100,800
AD
5.97
0.04
0.059
0.709
0.65
2
8
1
0
0
0
0
null
Panel
5.9
0
1,500
1
Metabolic_specialist
113,538.88
4.35
Delayed
60
73.6
80.7
43.7
43.4
1
0
0
5.38
2
0
null
0
59.4
0
0
0
0
0
0
0
0
1
-0.86
-2.5
0
0
0
0
340.68
15.175
21.118
8.01
6.25
233.1
1.41
0.208
417.7
415.7
41.9
35.3
201.9
0
Supportive_only
null
null
null
null
null
1.88
0
Fully_covered
0
0
11.92
0
1,006
High_value
0.518
null
0
0
Not_applicable
0
null
0
0
Moderate
0
31
0
0
0
Assisted
Limited_verbal
0
0
Home_school_medical
1
0
0
null
null
0
29.7
9.2
8.6
1
40,011
5.9
5,103
60.1
55.8
27.6
27
34.7
53.7
0
0
0
1
0
0
0
32.4
8
0
0
1
0
0
0
1
2.82
HCG5-0000080
Male
White_non_Hispanic
Latin_America
Urban
Low
English
Commercial
Myotonic_congenital
NM
590
160,900
AD
5.54
0.1
2.197
8.676
6.48
5
8
6
1
0
0
0
null
Panel
7.42
1
1,500
0
Other
32,980.57
8.75
Delayed
47
74.4
39.4
125.3
60.6
0
0
0
2.47
4
0
null
0
91.2
0
0
1
0
0
0
0
0
0
0.14
-2.07
0
1
0
0
148.05
10.433
28.913
6.72
3.23
111.9
7.26
0.146
326
321.7
84.7
212.8
2,522.9
0
Supportive_only
null
null
null
null
null
5.74
0
Prior_auth_required
0
0
8.65
0
4,606
Intermediate
0.728
null
0
0
Not_applicable
0
null
0
0
Stable
1
17
0
0
0
Assisted
Limited_verbal
0
0
Special_ed
1
1
0
null
null
0
55.6
11.1
12.4
1
88,524
3.8
15,375
42.9
42.1
62.8
19.6
29.2
52.3
0
1
1
1
0
0
1
83.6
12
1
0
0
0
0
1
4
2.01
HCG5-0000081
Male
Asian
North_America
Urban
High
English
Commercial
OTC
UCD
664
311,250
XLR
9.83
0.52
0.01
0.209
0.199
0
6
15
3
0
0
0
null
WGS
10.34
0
8,500
1
Geneticist
11,027.91
8.76
Profound_delay
21.2
42.6
28.9
12.2
30.8
0
0
0
2.07
4
0
null
0
91.1
0
0
1
1
1
0
1
0
0
-3.2
-2.5
1
0
1
0
350.94
46.116
11.615
3.52
0.48
20
2.18
0.185
230.6
221.7
31.3
76.9
581.9
1
Small_molecule
null
null
null
Supportive_metabolic
1.02
1.7
1,154,285
Partial_coverage
0
0
25.55
1
1,250
Intermediate
0.364
0.688
0
0
Non_responder
0
null
0
0
Moderate
0
18
8
0
0
Bedbound
Nonverbal
1
0
Special_ed
1
0
0
null
null
0
21.1
17.8
10.1
0
0
4.4
9,610
21.2
18.1
22.6
31.9
59.5
51.2
0
0
1
1
0
0
0
28.8
7
1
0
1
0
0
0
3
2.41
HCG5-0000082
Male
Asian
Europe
Suburban
Low
Spanish
Medicaid_CHIP
SCID
IMM
183
300,400
XLR
10
0.92
0.006
0.006
0
0
2
8
2
0
1
1
2
Single_gene
4.33
0
800
1
NBS_followup
18,138.38
4.95
Profound_delay
40.4
26.9
87.5
42.3
14.5
0
0
1
1.67
0
0
null
0
66.3
0
0
1
0
1
0
0
0
0
-2.3
-0.6
0
0
0
0
66.58
33.546
16.037
10.19
5.91
24.6
2.13
0.32
1,406.7
380.4
18.6
192.4
369.4
1
SRT
null
null
null
null
0.88
5.06
463,144
Partial_coverage
0
0
22.63
1
629
Low_value
0.355
0.931
0
0
Responder
0
null
0
0
Stable
2
34
3
1
0
Bedbound
Nonverbal
1
0
Special_ed
0
2
0
null
null
0
45.8
11.7
11.9
1
18,860
4.9
1,652
41.8
12.6
23.2
31.2
90
38.3
0
0
0
1
0
0
0
45.8
25
0
0
0
1
1
0
3
4.9
HCG5-0000083
Male
Hispanic
North_America
Urban
Low
Mandarin
Commercial
MPS_I_Hurler
LSD
579
607,014
AR
7.91
0.8
0.019
0.019
0
0
3
23
6
0
1
1
7
Panel
0.47
0
1,500
1
NBS_followup
7,028.66
7.5
Regression
51.4
104.5
86.2
25.9
49.5
0
0
1
2.39
1
0
null
1
64.3
1
0
1
1
1
0
1
1
1
-0
-1.83
0
0
1
1
128.25
18.417
19.496
3.64
13.81
76.6
3.76
0.13
2,745.8
350.2
43.1
61.3
2,619.4
1
ASO
null
null
Custom_ASO
null
0.84
10.33
843,065
Prior_auth_required
0
0
2.62
0
8,689
Low_value
0.421
0.587
0
0
Non_responder
1
Cord
0
1
Stable
4
26
0
0
1
Wheelchair
AAC_device
1
0
Mainstream_with_support
1
1
1
5.68
Respiratory_failure
1
61.7
16.9
17.4
0
0
4.4
3,762
30.5
65
57.2
30.1
45.4
39.2
1
0
1
1
0
0
0
28
4
0
0
0
0
0
0
1
1.43
HCG5-0000084
Female
Other_Multi
Europe
Suburban
Low
Spanish
Uninsured
Gaucher_type1
LSD
355
230,800
AR
3.56
0.05
2.585
6.128
3.543
4
13
13
0
0
0
0
null
Panel
4.21
0
1,500
1
Other
6,789.26
5.16
Delayed
81.5
84.7
94.4
82.7
89.2
0
1
1
1.91
1
0
null
0
111.3
0
0
0
0
1
0
0
0
1
-2.73
1.38
0
0
1
0
72.2
16.181
8.039
6.26
1.56
20
1.34
0.207
246.8
329.9
45.8
33.6
6,754.4
1
ASO
null
null
Custom_ASO
null
6.27
5.37
87,299
Partial_coverage
0
0
4.94
0
2,626
Intermediate
0.212
0.57
0
0
Responder
0
null
0
0
Stable
1
15
0
0
0
Ambulatory
Verbal
1
0
Special_ed
1
0
0
null
null
0
39
11.6
14.5
1
27,757
6.4
875
59.3
64.9
66.3
90.3
17
54
0
1
1
1
0
0
1
75.7
5
1
1
0
0
0
0
11
1.05
HCG5-0000085
Male
Hispanic
Latin_America
Urban
Middle
English
Commercial
Fabry
LSD
324
301,500
XLR
4.68
0.04
3.429
5.847
2.418
1
12
8
0
1
0
0
null
WES
13.96
0
4,500
0
Metabolic_specialist
33,851.43
6.68
Delayed
59.9
85.5
28.4
88.2
53.1
0
0
0
2.19
3
1
Moderate
0
65.3
0
0
1
0
1
1
0
1
1
-1.33
-0.11
0
0
1
0
364.05
31.236
35.487
0.94
2.26
20
4.4
0.243
217
354.4
38.3
57.3
1,452.5
1
Small_molecule
null
null
null
Migalastat
7.29
13.55
390,231
Prior_auth_required
0
0
36
1
1,126
Intermediate
0.69
0.744
0
0
Responder
0
null
0
0
Stable
1
22
0
0
0
Assisted
Limited_verbal
0
0
Not_enrolled
1
2
0
null
null
0
44.3
18.5
17.3
1
28,586
4.8
2,768
57.7
24.9
72.1
28.3
30.3
80.1
0
0
0
1
0
0
0
103.3
12
1
0
0
0
0
0
6
0.39
HCG5-0000086
Male
Hispanic
North_America
Urban
Low
English
Medicaid_CHIP
Alexander
LD
58
203,450
AD
9.82
0.65
2.102
7.691
5.589
0
11
6
4
1
0
0
null
WES
22.59
0
4,500
1
Metabolic_specialist
43,700.31
5.67
Profound_delay
62
29.5
59.2
36.8
39.5
0
1
1
4.23
7
1
Mild
0
80.8
0
0
0
0
0
0
1
0
0
2
0.87
1
0
0
0
72.94
36.049
4.817
0.75
6.86
20
2.18
0.142
202
376.3
102.8
133.1
5,914.4
0
Supportive_only
null
null
null
null
null
5.11
0
Partial_coverage
0
0
7.31
0
562
High_value
0.375
null
0
0
Not_applicable
0
null
0
0
Slow_progression
3
48
2
0
0
Bedbound
Nonverbal
1
1
Not_enrolled
1
5
0
null
null
0
53.5
18.8
13.2
1
38,991
5.5
6,918
58.3
48.3
56.7
33.5
22.1
56.3
0
0
1
0
1
0
1
358.2
11
1
0
0
1
0
1
1
4.44
HCG5-0000087
Male
Hispanic
Europe
Urban
Low
English
Medicaid_CHIP
Leigh_syndrome
MITO
506
256,000
MT
9.99
0.68
0.457
2.19
1.733
9
20
13
1
1
0
0
null
Panel
5.46
1
1,500
1
Cardiologist
156,770.18
6.74
Profound_delay
10
41.7
16.8
53.6
73
0
0
0
3.84
8
0
null
0
99.3
0
0
0
1
1
1
0
1
0
-1.04
-3.1
1
0
0
0
1,422.04
26.79
10.825
3.71
7.03
59.3
0.97
0.331
117.6
569
63.5
466.5
3,512.7
0
Supportive_only
null
null
null
null
null
4.31
0
Partial_coverage
0
0
13.91
0
112
Cost_saving
0.466
null
0
0
Not_applicable
0
null
0
0
Moderate
0
14
0
0
0
Bedbound
Nonverbal
1
1
Mainstream
1
6
1
15.92
Respiratory_failure
0
17.3
12.7
2.4
0
0
5.1
6,428
56.7
28.6
50.9
90.9
42.3
58.4
0
0
1
1
0
1
1
29
13
1
0
0
1
0
1
3
4.24
HCG5-0000088
Male
White_non_Hispanic
North_America
Suburban
Middle
English
Commercial
Pompe_late_onset
LSD
365
232,300
AR
8.23
0.1
0.02
0.02
0
0
4
12
0
0
1
1
7.4
Panel
2.16
1
1,500
1
NBS_followup
24,964.64
5.78
Profound_delay
35.9
52.4
70.2
38.5
21.1
0
0
0
1.47
2
1
Moderate
1
54.9
1
0
0
1
1
0
1
0
0
-1.72
-1.41
0
0
1
0
109.73
24.744
24.307
6.29
8.91
156.3
1.62
0.379
384.1
272.5
41.2
100
458
1
ASO
null
null
Custom_ASO
null
0.14
65.29
211,754
Fully_covered
0
0
2.55
1
3,423
High_value
0.567
0.893
0
0
Partial
0
null
0
0
Stable
3
10
0
0
1
Bedbound
Nonverbal
0
1
Mainstream_with_support
1
6
0
null
null
0
52.5
9.4
7.6
0
0
4.2
3,072
67.1
8.8
66.4
35.8
35.3
81.6
1
0
1
1
0
0
1
43
4
0
0
0
0
0
0
2
0
HCG5-0000089
Male
White_non_Hispanic
North_America
Urban
Middle
Other
Medicaid
MERRF
MITO
551
545,000
MT
6.46
0.22
7.017
9.516
2.499
3
7
12
1
1
0
0
null
WGS
43.31
0
8,500
1
Other
7,926.36
6.22
Regression
38.6
23.6
39.6
19.1
105.1
0
0
0
1.7
0
0
null
1
24.8
1
0
0
0
1
0
0
1
0
-0.74
-0.18
0
1
0
0
402.7
12.859
4.708
9.59
8.27
50.6
1.15
0.256
1,125.4
192.5
44.5
94.4
1,038.9
0
Supportive_only
null
null
null
null
null
9.62
0
Partial_coverage
0
0
5.36
0
529
High_value
0.285
null
0
0
Not_applicable
0
null
0
0
Stable
11
36
0
0
0
Wheelchair
AAC_device
0
0
Mainstream_with_support
1
3
0
null
null
0
33.6
15.8
2.5
1
28,604
4.2
4,661
53.5
20.8
76.3
55.4
95.4
49.5
0
0
1
0
1
0
0
188.2
17
0
1
0
0
0
0
4
1
HCG5-0000090
Female
White_non_Hispanic
North_America
Urban
Middle
Other
Commercial
Pompe_late_onset
LSD
365
232,300
AR
6.09
0.1
0.008
0.008
0
0
3
15
0
0
1
1
2.9
Single_gene
3.66
0
800
1
NBS_followup
24,107.34
7.63
Regression
56.7
48.7
67.7
72.4
49.9
0
0
1
2.67
5
0
null
0
78.3
0
0
0
0
0
0
1
1
1
-0.87
0.32
0
0
1
0
111.15
13.571
26.688
3.89
0.84
1,149.7
2.34
0.256
20
512.3
47.3
378.1
5,320.2
1
SRT
null
null
null
null
0.08
11.28
134,616
Prior_auth_required
0
0
3.53
0
5,688
Low_value
0.47
0.901
0
0
Responder
0
null
0
0
Stable
6
31
4
0
0
Wheelchair
AAC_device
0
0
Special_ed
1
4
0
null
null
0
59.8
9.7
15.1
0
0
6.9
6,702
47.6
67.1
61
84.8
47.6
34.4
0
0
0
1
0
0
0
37.5
16
1
1
0
0
0
0
4
1.81
HCG5-0000091
Male
Black_non_Hispanic
North_America
Rural
High
Other
Medicaid
X_ALD
LD
43
300,100
XLR
6.65
0.55
0.006
0.006
0
0
3
7
1
0
1
1
2
WGS
1.57
0
8,500
1
NBS_followup
20,864.13
6.2
Regression
79.2
44.8
40
57.4
65.9
0
0
0
5.26
7
1
Moderate
1
44.6
1
0
0
0
1
0
0
0
0
-2.59
-1.44
0
0
0
0
690.64
19.017
14.458
5.46
2.16
20
1.38
0.083
199.6
560.2
64.6
335.4
1,030.4
1
Small_molecule
null
null
null
Supportive_metabolic
0.27
25.25
797,296
Partial_coverage
0
0
15.39
1
2,024
High_value
0.419
0.835
0
0
Partial
0
null
0
0
Rapid
2
19
1
0
0
Wheelchair
AAC_device
0
0
Special_ed
0
3
1
6.43
Cardiac
0
45.6
3.6
10.7
0
0
6.2
11,748
61.3
72.1
68.3
53
66.1
55.9
0
0
0
1
1
0
0
94.8
7
1
0
0
0
0
0
8
0.22
HCG5-0000092
Male
White_non_Hispanic
MENA
Suburban
Middle
Arabic
Commercial
ARG1
UCD
90
207,800
AR
3.49
0.25
2.88
5.229
2.349
7
18
7
4
1
0
0
null
Panel
10.07
1
1,500
1
NBS_followup
17,290.14
9
Delayed
72.1
66.9
67.9
68.2
107.9
0
0
1
2.84
1
0
null
0
84.3
0
0
0
0
0
0
0
0
0
-3.88
-1.2
1
0
0
0
664.82
9.347
40.152
8.41
5.83
103.2
1.29
0.097
1,460.2
436.6
46.4
1,591.5
4,101.5
1
Gene_therapy
null
Clinical_trial
null
null
5.74
26.17
50,196
Prior_auth_required
0
0
12.99
0
2,835
Intermediate
0.596
0.549
0
0
Partial
0
null
0
0
Stable
21
9
2
0
0
Ambulatory
Verbal
0
0
Home_school_medical
1
4
0
null
null
0
48.2
16.5
16.2
0
0
2
3,209
68.9
68.6
15.3
70
52.5
73.9
1
1
0
1
0
1
1
31.3
11
1
0
0
0
0
0
6
1.04
HCG5-0000093
Female
White_non_Hispanic
Europe
Urban
Low
Other
Medicaid
HCU_homocystinuria
OA
394
236,200
AR
5.45
0.08
0.012
0.012
0
0
3
16
2
0
1
1
4.2
MLPA
6.25
0
1,000
1
NBS_followup
36,657.55
3.9
Delayed
66.4
45.9
74.9
56.8
103.2
1
0
0
2.82
2
0
null
0
85.2
0
0
1
1
1
0
0
0
0
-1.09
-1.03
1
1
1
0
131.14
8.413
21.147
4.05
3.07
20
2.65
0.16
392.2
206.6
40.1
684.1
1,199.7
0
Supportive_only
null
null
null
null
null
6.67
0
Denied
1
0
20.11
0
428
Intermediate
0.422
null
0
0
Not_applicable
0
null
0
0
Moderate
0
20
4
1
0
Assisted
Limited_verbal
1
0
Mainstream
1
5
0
null
null
0
29.3
9
15.6
0
0
5
5,164
63.2
34
52.7
44.6
50.5
63.4
0
0
0
0
1
1
1
84.2
23
1
0
0
0
0
0
0
0
HCG5-0000094
Male
Black_non_Hispanic
Asia_Pacific
Rural
Low
English
Medicaid
MMA
OA
27
251,000
AR
6.12
0.45
0.003
0.003
0
0
3
4
0
1
1
1
1
Panel
1.12
0
1,500
0
NBS_followup
9,017.97
6.3
Regression
72.2
62.9
29.5
68
74.9
0
1
0
5.35
8
0
null
0
122.5
0
0
0
0
1
1
1
1
1
-0.91
-0.88
1
1
1
0
238.58
20.476
10.522
7.17
4.61
349.1
2.28
0.127
402
341.8
17.6
79.2
3,719.2
0
Supportive_only
null
null
null
null
null
31.52
0
Fully_covered
0
0
2.52
0
567
Low_value
0
null
0
0
Not_applicable
0
null
0
0
Moderate
5
12
2
0
0
Wheelchair
AAC_device
1
0
Special_ed
0
2
1
7.42
Cardiac
0
57.6
0.4
9.9
1
84,782
6.9
1,713
89.1
56.9
87.1
39.1
41.8
53
0
0
0
1
1
0
1
105.2
9
1
0
0
1
0
0
2
0.8
HCG5-0000095
Male
White_non_Hispanic
Asia_Pacific
Urban
High
English
Other_public
CMT_1A_1B
NM
101,081
118,220
AD
4.77
0.02
12
18
14.392
3
14
2
2
1
0
0
null
WES
28.23
1
4,500
1
Geneticist
30,262.04
8.67
Delayed
62.9
97
116.4
53.5
57
0
0
0
1.86
2
0
null
1
50.4
1
0
1
0
0
0
1
0
1
-2.16
3.06
0
0
0
0
648.04
54.082
15.006
1.82
2.95
245.5
4.6
0.212
35.8
421
27.2
117
2,776.9
0
Supportive_only
null
null
null
null
null
6.09
0
Partial_coverage
0
0
10.96
0
166
Intermediate
0.252
null
0
0
Not_applicable
0
null
0
0
Slow_progression
11
22
0
0
0
Assisted
Limited_verbal
0
0
Special_ed
1
1
0
null
null
0
44.8
12
18.9
1
29,776
6.5
1,775
70
60.5
51.7
27.3
53
18
0
0
1
1
0
1
1
229
29
0
0
0
0
0
0
3
0
HCG5-0000096
Female
White_non_Hispanic
North_America
Urban
Low
English
Commercial
MSUD
OA
511
248,600
AR
5.74
0.55
0.009
0.009
0
0
2
11
3
0
1
1
3.4
Single_gene
7.81
1
800
0
NBS_followup
48,358.97
6.79
Delayed
69.6
66.9
38.2
69.8
49.5
0
1
0
4.94
2
1
Moderate
0
50.2
0
0
1
0
0
0
0
0
0
0.17
0.1
1
1
1
0
245.75
3.436
15.499
1.19
2.24
99.1
4.48
0.053
568.2
214
54.3
556.2
1,410.5
0
Supportive_only
null
null
null
null
null
30.5
0
Prior_auth_required
0
0
6.81
0
3,433
High_value
0.15
null
0
0
Not_applicable
0
null
0
0
Slow_progression
10
21
4
0
0
Assisted
Limited_verbal
0
0
Special_ed
1
6
0
null
null
0
24.9
18.3
15.2
1
55,068
8.4
18,585
76.9
0
70
53
39.7
24.8
1
1
0
1
0
1
1
23.6
19
1
0
0
1
0
0
6
0.78
HCG5-0000097
Male
Hispanic
North_America
Urban
Middle
English
TRICARE
Fabry
LSD
324
301,500
XLR
4.11
0.04
4.577
18
15
1
7
7
7
1
0
0
null
Panel
25.41
0
1,500
1
Neurologist
96,544.95
4.89
Delayed
77.8
52.1
48.5
95.9
63.5
0
1
0
7.11
6
1
Mild
0
90
0
0
1
1
0
1
1
0
1
-0.07
-0.34
0
1
1
0
72.19
15.607
75.26
2.92
2.67
20
2.31
0.212
821.4
249.1
51
92.3
3,615.8
1
Small_molecule
null
null
null
Migalastat
18
2.57
950,071
Fully_covered
0
0
0.74
0
2,544
Intermediate
0.767
0.716
0
0
Responder
0
null
0
0
Stable
6
13
1
0
0
Assisted
Limited_verbal
0
0
Home_school_medical
1
4
0
null
null
0
37.5
8.7
10.4
1
30,713
5.5
27,698
40.2
64.3
68.2
68.5
55.5
53.6
0
0
0
1
1
0
0
93.5
8
1
0
0
0
0
1
6
1.88
HCG5-0000098
Female
Hispanic
Asia_Pacific
Urban
High
English
Uninsured
Pompe_infantile
LSD
365
232,300
AR
9.32
0.85
0.017
0.017
0
0
1
6
0
0
1
1
6.1
WES
0.41
1
4,500
1
NBS_followup
35,572.86
6.17
Profound_delay
19.1
22.6
47.9
78.6
87.5
1
0
0
6.58
1
1
Mild
0
125
0
0
0
1
0
0
1
0
1
-0.87
-2.41
0
0
0
0
194.43
28.368
13.147
8.33
1.21
97.8
3
0.154
311
339.2
15.8
171.3
208.5
1
Gene_therapy
null
Clinical_trial
null
null
1.3
7.12
719,739
Fully_covered
0
0
10.14
0
167
High_value
0.675
0.557
0
0
Responder
0
null
0
0
Stable
6
35
1
1
0
Bedbound
Nonverbal
0
0
Home_school_medical
1
3
0
null
null
0
58.1
11.7
13.5
0
0
6.3
7,372
29.2
40.9
41.4
88.2
29.5
46.8
0
1
0
1
0
0
0
46.7
18
1
0
0
0
0
0
1
0
HCG5-0000099
Female
White_non_Hispanic
North_America
Urban
High
English
Medicaid_CHIP
22q11_2_DiGeorge
SYN
567
188,400
AD
5.45
0.08
0.341
1.459
1.118
8
11
18
4
1
0
0
null
WES
3.19
0
4,500
0
Geneticist
68,789.64
7.49
Delayed
56.2
59.1
89
91.3
60
1
0
0
5.13
1
1
Mild
0
84.3
0
0
1
1
0
0
0
0
0
-2.13
-2.38
0
0
1
0
85.78
58.269
10.76
2.54
1.73
20
0.96
0.133
111.4
659.5
30.2
37.3
610.5
0
Supportive_only
null
null
null
null
null
12.74
0
Fully_covered
0
0
21.39
0
88
Cost_saving
0.033
null
0
0
Not_applicable
0
null
0
0
Moderate
5
4
2
1
0
Assisted
Limited_verbal
0
0
Mainstream
1
4
0
null
null
0
47.5
15.6
17.4
1
20,804
4.7
4,336
42.4
95.6
69.7
47.2
100
47.8
0
1
0
1
0
0
1
9
10
1
0
0
1
0
0
0
1.18