Disease Risk Table
Below are the carrier rates, detection rates, and residual risks for the conditions listed. For a list of specific conditions screened, please reference the Disease Screened list on any individual Horizon report. A negative carrier screening result reduces the risk for a patient to be a carrier of a specific condition, but it does not completely rule out carrier status. Patients with a family history for a specific genetic condition will have a higher carrier risk prior to testing, and if the condition-causing variant in their family is not included on the test, their carrier risk would remain unchanged. Genetic counseling is recommended for patients with a family history of genetic condition(s) so that risk figures based on actual family history can be determined and discussed, along with the potential implications for reproduction.
If you have questions, please contact Natera™ at 650.249.9090.
| TITLE | GENE/REF SEQ # | ETHNICITY | CARRIER RATE | RESIDUAL RISK | DETECTION RATE |
|---|---|---|---|---|---|
3-Beta-Hydroxysteroid Dehydrogenase Deficiency, Type II |
HSD3B2 (NM_000198.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency |
HMGCL (NM_000191.2) | General population | < 1 in 500 | 1 in 8318 | 94% |
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency |
MCCC1 (NM_020166.4) | Caucasian | 1 in 137 | 1 in 1134 | 88% |
| General population | 1 in 147 | 1 in 2921 | >95% | ||
3-Methylcrotonyl-CoA Carboxylase 2 Deficiency |
MCCC2 (NM_022132.4) | Caucasian | 1 in 112 | 1 in 1234 | 91% |
| General population | 1 in 120 | 1 in 2381 | >95% | ||
3-Methylglutaconic Aciduria, Type III |
OPA3 (NM_025136.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Iraqi | 1 in 13 | 1 in 241 | >95% | ||
3-Phosphoglycerate Dehydrogenase Deficiency |
PHGDH (NM_006623.3) | Ashkenazi Jewish | 1 in 453 | 1 in 9041 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency |
PTS (NM_000317.2) | Asian | 1 in 122 | 1 in 2421 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Abetalipoproteinemia |
MTTP (NM_000253.3) | Ashkenazi Jewish | 1 in 186 | 1 in 3701 | >95% |
| Caucasian | < 1 in 500 | 1 in 9981 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | 95% | ||
Achromatopsia, CNGB3-Related |
CNGB3 (NM_019098.4) | Caucasian | 1 in 91 | 1 in 1801 | >95% |
| General population | 1 in 98 | 1 in 1941 | >95% | ||
Acrodermatitis Enteropathica |
SLC39A4 (NM_130849.3) | General population | 1 in 354 | 1 in 7061 | >95% |
Acute Infantile Liver Failure |
TRMU (NM_018006.4) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Yemenite | 1 in 34 | 1 in 551 | 94% | ||
Acyl-CoA Oxidase I Deficiency |
ACOX1 (NM_004035.6) | General population | <1 in 500 | 1 in 5545 | 91% |
Adenosine Deaminase Deficiency |
ADA (NM_000022.2) | General population | 1 in 337 | 1 in 6721 | >95% |
Adrenoleukodystrophy, X-Linked |
ABCD1 (NM_000033.3) | General population | 1 in 10500 | 1 in 70000 | 85% |
| Sephardic Jewish | 1 in 10500 | 1 in 210000 | >95% | ||
Aicardi-Goutières Syndrome, SAMHD1-Related |
SAMHD1 (NM_015474.3) | General population | < 1 in 500 | 1 in 7130 | 93% |
Alpha-Mannosidosis |
MAN2B1 (NM_000528.3) | Caucasian | 1 in 485 | 1 in 8068 | 94% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Alpha-Thalassemia |
HBA1/HBA2 (NM_000558.4; NM_000517.4) | African American | 1 in 30 | 1 in 291 | 90% |
| Asian | 1 in 20 | 1 in 191 | 90% | ||
| Caucasian | <1 in 500 | 1 in 4991 | 90% | ||
| General population | 1 in 25 | 1 in 241 | 90% | ||
Alpha-Thalassemia Intellectual Disability Syndrome, X-Linked |
ATRX (NM_000489.4) | General population | < 1 in 750000 | 1 in 1000000 | 95% |
Alport Syndrome, COL4A3-Related |
COL4A3 (NM_000091.4) | Ashkenazi Jewish | 1 in 192 | 1 in 3821 | >95% |
| Caucasian | 1 in 284 | 1 in 5661 | 95% | ||
| General population | 1 in 354 | 1 in 7061 | >95% | ||
Alport Syndrome, COL4A4-Related |
COL4A4 (NM_000092.4) | General population | 1 in 353 | 1 in 7041 | >95% |
Alport Syndrome, COL4A5-Related, X-Linked |
COL4A5 (NM_000495.3) | General population | 1 in 47000 | 1 in 390000 | 88% |
Alstrom Syndrome |
ALMS1 (NM_015120.4) | General population | <1 in 500 | 1 in 9981 | >95% |
Andermann Syndrome (Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum) |
SLC12A6 (NM_133647.1) | French Canadian | 1 in 23 | 1 in 441 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Argininosuccinate Aciduria |
ASL (NM_000048.3) | General population | 1 in 274 | 1 in 5461 | >95% |
Aromatase Deficiency |
CYP19A1 (NM_031226.2) | General population | < 1 in 500 | 1 in 2627 | 81% |
Arthrogryposis, Mental Retardation, and Seizures |
SLC35A3 (NM_012243.2) | Ashkenazi Jewish | 1 in 453 | 1 in 9041 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Asparagine Synthetase Deficiency |
ASNS (NM_001673.4) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Iranian | 1 in 80 | 1 in 1581 | >95% | ||
Aspartylglycosaminuria |
AGA (NM_000027.3) | Caucasian | <1 in 500 | 1 in 9981 | >95% |
| Finnish | 1 in 63 | 1 in 1241 | >95% | ||
| General population | <1 in 500 | 1 in 9981 | >95% | ||
Ataxia with Vitamin E Deficiency |
TTPA (NM_000370.3) | Caucasian | < 1 in 500 | 1 in 4991 | 90% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Ataxia-Telangiectasia |
ATM (NM_000051.3) | Ashkenazi Jewish | < 1 in 500 | 1 in 9981 | >95% |
| General population | 1 in 100 | 1 in 1101 | 91% | ||
| Sephardic Jewish - Moroccan | 1 in 69 | 1 in 1361 | >95% | ||
Autoimmune Polyglandular Syndrome, Type 1 |
AIRE (NM_000383.2) | Finnish | 1 in 79 | 1 in 1561 | >95% |
| General population | 1 in 354 | 1 in 7061 | >95% | ||
| Sardinian | 1 in 60 | 1 in 1181 | 95% | ||
| Sephardic Jewish - Iranian | 1 in 27 | 1 in 521 | >95% | ||
Autosomal Recessive Polycystic Kidney Disease |
PKHD1 (NM_138694.3) | Ashkenazi Jewish | 1 in 106 | 1 in 2101 | >95% |
| Caucasian | 1 in 100 | 1 in 1981 | >95% | ||
| General population | 1 in 144 | 1 in 2861 | >95% | ||
| South African Afrikaner | 1 in 52 | 1 in 1021 | >95% | ||
Bardet-Biedl Syndrome, BBS1-Related |
BBS1 (NM_024649.4) | Faroese | 1 in 30 | 1 in 581 | >95% |
| General population | 1 in 392 | 1 in 7821 | >95% | ||
Bardet-Biedl Syndrome, BBS10-Related |
BBS10 (NM_024685.3) | General population | 1 in 423 | 1 in 8441 | >95% |
Bardet-Biedl Syndrome, BBS12-Related |
BBS12 (NM_1 52618.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Bardet-Biedl Syndrome, BBS2-Related |
BBS2 (NM_031885.3) | Ashkenazi Jewish | 1 in 140 | 1 in 2781 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
| Hutterites | 1 in 22 | 1 in 421 | >95% | ||
Bare Lymphocyte Syndrome, Type II |
CIITA (NM_000246.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Bartter Syndrome, Type IV |
BSND (NM_057176.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Beta-Hemoglobinopathies |
HBB (NM_000518.4) | African American | 1 in 8 | 1 in 141 | >95% |
| Asian | 1 in 54 | 1 in 1061 | >95% | ||
| Caucasian | 1 in 373 | 1 in 7441 | >95% | ||
| General population | 1 in 49 | 1 in 961 | >95% | ||
| Hispanic | 1 in 17 | 1 in 321 | >99% | ||
| Mediterranean | 1 in 28 | 1 in 541 | >95% | ||
Beta-ketothiolase Deficiency |
ACAT1 (NM_000019.3) | Asian | 1 in 289 | 1 in 5761 | >95% |
| Caucasian | 1 in 354 | 1 in 1308 | 73% | ||
| General population | 1 in 347 | 1 in 6921 | >95% | ||
Bilateral Frontoparietal Polymicrogyria |
GPR56 (NM_005682.6) | General population | < 1 in 500 | 1 in 9981 | >95% |
Biotinidase Deficiency |
BTD (NM_000060.3) | Caucasian | 1 in 12 | 1 in 80 | 86% |
| General population | 1 in 25 | 1 in 481 | >95% | ||
| Hispanic | 1 in 30 | 1 in 581 | >95% | ||
Bloom Syndrome |
BLM (NM_000057.2) | Ashkenazi Jewish | 1 in 134 | 1 in 2661 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
CRB1-Related Retinal Dystrophies |
CRB1 (NM_201253.2) | General population | 1 in 112 | 1 in 2221 | >95% |
Canavan Disease |
ASPA (NM_000049.2) | Ashkenazi Jewish | 1 in 55 | 1 in 1081 | >95% |
| General population | 1 in 158 | 1 in 3141 | 95% | ||
Carbamoyl Phosphate Synthetase I Deficiency |
CPS1 (NM_001875.4) | Asian | 1 in 447 | 1 in 2788 | 84% |
| Caucasian | 1 in 284 | 1 in 2022 | 86% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Carnitine Deficiency, Systemic Primary |
SLC22A5 (NM_003060.2) | Asian | 1 in 100 | 1 in 522 | 81% |
| Caucasian | 1 in 110 | 1 in 1818 | 94% | ||
| Faroese | 1 in 20 | 1 in 381 | >95% | ||
| General population | 1 in 200 | 1 in 3981 | >95% | ||
Carnitine Palmitoyltransferase IA Deficiency |
CPT1A (NM_001876.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Hutterites | 1 in 16 | 1 in 301 | >95% | ||
Carnitine Palmitoyltransferase II Deficiency |
CPT2 (NM_000098.2) | African American | 1 in 308 | 1 in 6141 | >95% |
| Ashkenazi Jewish | 1 in 45 | 1 in 881 | >95% | ||
| Asian | < 1 in 500 | 1 in 9981 | >95% | ||
| Caucasian | 1 in 200 | 1 in 3981 | >95% | ||
| General population | 1 in 182 | 1 in 3621 | >95% | ||
Carpenter Syndrome |
RAB23 (NM_001278667.1) | Caucasian | < 1 in 500 | 1 in 9981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Cartilage-Hair Hypoplasia |
RMRP (NR_ 003051.3) | Amish | 1 in 19 | 1 in 361 | >95% |
| Finnish | 1 in 76 | 1 in 1501 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Cerebrotendinous Xanthomatosis |
CYP27A1 (NM_000784.3) | General population | 1 in 112 | 1 in 2221 | >95% |
| Sephardic Jewish - Moroccan | 1 in 76 | 1 in 1501 | >95% | ||
Charcot-Marie-Tooth Disease, GJB1-Related, X-Linked |
GJB1 (NM_000166.5) | General population | 1 in 3700 | 1 in 74000 | >95% |
Charcot-Marie-Tooth Disease, Type 4D |
NDRG1 (NM_001135242.1) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Roma | 1 in 22 | 1 in 421 | >95% | ||
Cholesteryl Ester Storage Disease |
LIPA (NM_000235.3) | Ashkenazi Jewish | < 1 in 500 | 1 in 9981 | >95% |
| Caucasian | 1 in 145 | 1 in 2881 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
| Sephardic Jewish - Iranian | 1 in 26 | 1 in 501 | >95% | ||
Choreoacanthocytosis |
VPS13A (NM_033305.2) | Ashkenazi Jewish | < 1 in 500 | 1 in 49901 | >99% |
| General population | < 1 in 500 | 1 in 9981 | 95% | ||
Choroideremia, X-Linked |
CHM (NM_000390.2) | General population | 1 in 25000 | 420000 | 94% |
Chronic Granulomatous Disease, Cytochrome b-negative |
CYBA (NM_000101.2) | General population | < 1 in 500 | 1 in 3328 | 85% |
| Sephardic Jewish - Moroccan | 1 in 13 | 1 in 241 | >95% | ||
Chronic Granulomatous, X-Linked |
CYBB (NM_000397.3) | General population | 1 in 180000 | 1 in 1000000 | 94% |
Ciliopathies, RPGRIP1L-Related |
RPGRIP1L (NM_015272.2) | General population | 1 in 259 | 1 in 5161 | >95% |
Citrin Deficiency |
SLC25A13 (NM_014251.2) | Asian | 1 in 123 | 1 in 2441 | >95% |
| Caucasian | < 1 in 500 | 1 in 9981 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Citrullinemia, Type I |
ASS1 (NM_000050.4) | Asian | 1 in 123 | 1 in 1357 | 91% |
| Caucasian | 1 in 195 | 1 in 3881 | >95% | ||
| General population | 1 in 119 | 1 in 2361 | >95% | ||
Cohen Syndrome |
VPS13B (NM_017890.4) | General population | <1 in 500 | 1 in 4991 | 90% |
Combined Malonic and Methylmalonic Aciduria |
ACSF3 (NM_001127214.3) | General population | 1 in 86 | 1 in 1701 | >95% |
Combined Oxidative Phosphorylation Deficiency 3 |
TSFM (NM_001172696.1) | Finnish | 1 in 80 | 1 in 1581 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Combined Oxidative Phosphorylation Defiency 4 |
GFM1 (NM_024996.5) | General population | < 1 in 500 | 1 in 9981 | >95% |
Combined Pituitary Hormone Deficiency 3 |
LHX3 (NM_014564.3) | General population | < 1 in 500 | 1 in 6238 | 92% |
Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency |
CYP17A1 (NM_000102.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Congenital Amegakaryocytic Thrombocytopenia |
MPL (NM_005373.2) | Ashkenazi Jewish | 1 in 57 | 1 in 1121 | >95% |
| Caucasian | 1 in 266 | 1 in 5301 | >95% | ||
| General population | 1 in 415 | 1 in 8281 | >95% | ||
Congenital Disorder of Glycosylation, Type 1C |
ALG6 (NM_013339.3) | General population | <1 in 500 | 1 in 9981 | >95% |
Congenital Disorder of Glycosylation, Type IB |
MPI (NM_001289155.1) | General population | < 1 in 500 | 1 in 9981 | >95% |
Congenital Insensitivity to Pain with Anhidrosis (CIPA) |
NTRK1 (NM_001012331.1) | Asian | 1 in 387 | 1 in 7721 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
| Sephardic Jewish - Moroccan | < 1 in 500 | 1 in 49901 | >99% | ||
Congenital Myasthenic Syndrome, CHRNE-Related |
CHRNE (NM_000080.3) | Caucasian | 1 in 383 | 1 in 7641 | >95% |
| Roma - Southeastern European | 1 in 25 | 1 in 481 | >95% | ||
| General population | 1 in 408 | 1 in 8141 | >95% | ||
Congenital Myasthenic Syndrome, RAPSN-Related |
RAPSN (NM_005055.4) | Caucasian | 1 in 176 | 1 in 3501 | >95% |
| General population | 1 in 252 | 1 in 5021 | >95% | ||
| Sephardic Jewish - Iraqi, Iranian | < 1 in 500 | 1 in 49901 | >99% | ||
Congenital Neutropenia, HAX1-Related |
HAX1 (NM_006118.3) | General population | < 1 in 500 | 1 in 9981 | 95% |
Congenital Neutropenia, VPS45-Related |
VPS45 (NM_001279353.1) | General population | < 1 in 500 | 1 in 9981 | >95% |
Congential Disorder of Glycosylation, Type IA |
PMM2 (NM_000303.2) | Ashkenazi Jewish | 1 in 61 | 1 in 1201 | >95% |
| Asian | 1 in 449 | 1 in 8961 | >95% | ||
| Caucasian | 1 in 42 | 1 in 821 | >95% | ||
| General population | 1 in 124 | 1 in 2461 | >95% | ||
Corneal Dystrophy and Perceptive Deafness Syndrome |
SLC4A11 (NM_032034.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Corticosterone Methyloxidase Deficiency |
CYP11B2 (NM_000498.3) | General population | < 1 in 500 | 1 in 1783 | 72% |
| Sephardic Jewish - Iranian | 1 in 30 | 1 in 581 | >95% | ||
Creatine Transporter Defect, SLC6A8-Related, X-Linked |
SLC6A8 (NM_005629.3) | General population | < 1 in 410000 | 1 in 683000 | 94% |
Cystic Fibrosis |
CFTR (NM_000492.3) | African American | 1 in 61 | 1 in 1201 | >95% |
| Ashkenazi Jewish | 1 in 24 | 1 in 461 | >95% | ||
| Asian | 1 in 94 | 1 in 1861 | >95% | ||
| Caucasian | 1 in 25 | 1 in 481 | >95% | ||
| General population | 1 in 45 | 1 in 881 | >95% | ||
| Hispanic | 1 in 58 | 1 in 1141 | >95% | ||
Cystinosis |
CTNS (NM_004937.2) | African American | < 1 in 500 | 1 in 9981 | >95% |
| Asian | < 1 in 500 | 1 in 9981 | >95% | ||
| Caucasian | 1 in 220 | 1 in 2191 | 90% | ||
| French Canadian - Saguenay Lac-St. Jean | 1 in 39 | 1 in 381 | 90% | ||
| General population | 1 in 224 | 1 in 4461 | >95% | ||
| Hispanic | < 1 in 500 | 1 in 1997 | 75% | ||
| Sephardic Jewish - Moroccan | 1 in 100 | 1 in 1981 | >95% | ||
D-Bifunctional Protein Deficiency |
HSD17B4 (NM_000414.3) | General population | < 1 in 500 | 1 in 3839 | 87% |
Deafness, Autosomal Recessive 77 |
LOXHD1 (NM_144612.6) | Ashkenazi Jewish | 1 in 180 | 1 in 3581 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Dihydrolipoamide Dehydrogenase Deficiency |
DLD (NM_000108.4) | Ashkenazi Jewish | 1 in 107 | 1 in 2121 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Duchenne/Becker Muscular Dystrophy, X-Linked |
DMD (NM_004006.2) | General population | 1in 4200 | 1 in 84000 | >95% |
Dyskeratosis Congenita, RTEL1-Related |
RTEL1 (NM_032957.4; NM_001283009.1) | Ashkenazi Jewish | 1 in 165 | 1 in 3281 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Dystrophic Epidermolysis Bullosa, COL7A1-Related |
COL7A1 (NM_000094.3) | General population | 1 in 370 | 1 in 7381 | >95% |
Ehlers-Danlos Syndrome, Type VIIC |
ADAMTS2 (NM_014244.4) | Ashkenazi Jewish | 1 in 187 | 1 in 3721 | >95% |
| General population | <1 in 500 | 1 in 7130 | 93% | ||
Ellis-van Creveld syndome |
EVC (NM_153717.2) | General population | 1 in 345 | 1 in 3441 | 90% |
| Lancaster County Amish | 1 in 12 | 1 in 221 | >95% | ||
Emery-Dreifuss Muscular Dystrophy, X-Linked |
EMD (NM_000117.2) | General population | 1 in 375000 | 1 in 1000000 | >95% |
Enhanced S-Cone Syndrome |
NR2E3 (NM_014249.3) | Ashkenazi Jewish | 1 in 100 | 1 in 9901 | >99% |
| General population | 1 in 204 | 1 in 4061 | >95% | ||
Ethylmalonic Encephalopathy |
ETHE1 (NM_014297.3) | General population | < 1 in 500 | 1 in 8318 | 94% |
Fabry Disease, X-Linked |
GLA (NM_000169.2) | General population | 1 in 42000 | 1 in 840000 | >95% |
Factor XI Deficiency |
F11 (NM_000128.3) | Ashkenazi Jewish | 1 in 11 | 1 in 201 | >95% |
| Asian | 1 in 163 | 1 in 3241 | >95% | ||
| Caucasian | 1 in 101 | 1 in 2001 | >95% | ||
| General population | 1 in 92 | 1 in 1821 | >95% | ||
Familial Dysautonomia |
IKBKAP (NM_003640.3) | Ashkenazi Jewish | 1 in 31 | 1 in 601 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Familial Hypercholesterolemia, LDLR-Related |
LDLR (NM_ 000527.4) | Ashkenazi Jewish | 1 in 69 | 1 in 454 | 85% |
| Caucasian | 1 in 200 | 1 in 1328 | 85% | ||
| Finnish | 1 in 143 | 1 in 2841 | >95% | ||
| French Canadian | 1 in 267 | 1 in 360 | 26% | ||
| South African Afrikaner | 1 in 70 | 1 in 1381 | >95% | ||
| General population | < 1 in 500 | 1 in 3565 | 86% | ||
Familial Hypercholesterolemia, LDLRAP1-Related |
LDLRAP1 (NM_015627.2) | General population | < 1 in 500 | 1 in 9981 | 95% |
| Sardinian | 1 in 143 | 1 in 2841 | >95% | ||
Familial Hyperinsulinism, ABCC8-Related |
ABCC8 (NM_000352.4) | Ashkenazi Jewish | 1 in 52 | 1 in 1021 | >95% |
| Finnish | 1 in 100 | 1 in 1981 | >95% | ||
| General population | 1 in 167 | 1 in 3321 | >95% | ||
Familial Hyperinsulinism, KCNJ11-Related |
KCNJ11 (NM_000525.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Familial Mediterranean Fever |
MEFV (NM_000243.2) | Armenian | 1 in 5 | 1 in 81 | >95% |
| Ashkenazi Jewish | 1 in 13 | 1 in 241 | >95% | ||
| General population | 1 in 115 | 1 in 2281 | >95% | ||
| Sephardic Jewish | 1 in 14 | 1 in 261 | >95% | ||
| Turkish | 1 in 5 | 1 in 81 | >95% | ||
Familial Neuropophyseal Diabetes Insipidus, Autosomal Recessive |
AQP2 (NM_000486.5) | General population | < 1 in 500 | 1 in 9981 | >95% |
Fanconi Anemia, Type A |
FANCA (NM_000135.2) | General population | 1 in 345 | 1 in 1434 | 76% |
| Sephardic Jewish - Moroccan, Tunisian | 1 in 133 | 1 in 2641 | >95% | ||
| Spanish Roma | 1 in 64 | 1 in 1261 | >95% | ||
Fanconi Anemia, Type C |
FANCC (NM_000136.2) | Ashkenazi Jewish | 1 in 89 | 1 in 1761 | >95% |
| General population | 1 in 417 | 1 in 8321 | >95% | ||
Fanconi Anemia, Type G |
FANCG (NM_004629.1) | African American | 1 in 100 | 1 in 1981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Fragile X Syndrome |
FMR1 (NM_001185076.1) | African American | 1 in 251 | 1 in 5001 | >95% |
| Ashkenazi Jewish | 1 in 58 | 1 in 1141 | >95% | ||
| Asian | < 1 in 500 | 1 in 9981 | >95% | ||
| Caucasian | 1 in 178 | 1 in 3541 | >95% | ||
| General population | 1 in 250 | 1 in 4981 | >95% | ||
| Hispanic | < 1 in 500 | 1 in 9981 | >95% | ||
Fumarase Deficiency |
FH (NM_000143.3) | General population | < 1 in 500 | 1 in 9981 | 95% |
GM1 Gangliosidosis |
GLB1 (NM_000404.2) | Caucasian | 1 in 278 | 1 in 5541 | >95% |
| General population | 1 in 158 | 1 in 3141 | >95% | ||
| Roma | 1 in 50 | 1 in 981 | >95% | ||
| South Brazil | 1 in 58 | 1 in 1141 | >95% | ||
GRACILE Syndrome |
BCS1L (NM_ 001257342.1) | Caucasian | 1 in 407 | 1 in 8121 | >95% |
| Finnish | 1 in 108 | 1 in 2141 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Galactokinase Deficiency |
GALK1 (NM_000154.1) | Asian | <1 in 500 | 1 in 4991 | 90% |
| General population | 1 in 122 | 1 in 2421 | >95% | ||
| Roma | 1 in 47 | 1 in 921 | >95% | ||
Galactosemia |
GALT (NM_000155.3) | African American | 1 in 87 | 1 in 1721 | >95% |
| Ashkenazi Jewish | 1 in 156 | 1 in 3101 | >95% | ||
| Caucasian | 1 in 152 | 1 in 3021 | >95% | ||
| General population | 1 in 112 | 1 in 2221 | >95% | ||
| Hispanic | 1 in 305 | 1 in 6081 | >95% | ||
| Irish Travellers | 1 in 11 | 1 in 201 | >95% | ||
Gaucher Disease |
GBA (NM_000157.3) | Ashkenazi Jewish | 1 in 15 | 1 in 281 | >95% |
| Caucasian | 1 in 164 | 1 in 495 | 67% | ||
| General population | 1 in 158 | 1 in 358 | 56% | ||
Gitelman Syndrome |
SLC12A3 (NM_000339.2) | General population | 1 in 100 | 1 in 1981 | >95% |
Glutaric Acidemia, Type I |
GCDH (NM_000159.3) | African American | 1 in 36 | 1 in 701 | >95% |
| Caucasian | 1 in 172 | 1 in 3421 | >95% | ||
| General population | 1 in 158 | 1 in 3141 | >95% | ||
| Lancaster County Amish | 1 in 11 | 1 in 201 | >95% | ||
| Lumbee Native Americans | 1 in 16 | 1 in 301 | >95% | ||
| Oji-Cree First Nations (N. Manitoba) | 1 in 8 | 1 in 141 | >95% | ||
Glutaric Acidemia, Type IIA |
ETFA (NM_000126.3) | General population | < 1 in 500 | 1 in 9981 | 95% |
Glutaric Acidemia, Type IIC |
ETFDH (NM_004453.3) | Asian | 1 in 87 | 1 in 1434 | 94% |
| General population | 1 in 250 | 1 in 4981 | >95% | ||
Glycine Encephalopathy, AMT-Related |
AMT (NM_000481.3) | Caucasian | 1 in 271 | 1 in 4501 | 94% |
| General population | 1 in 319 | 1 in 6361 | >95% | ||
Glycine Encephalopathy, GLDC-Related |
GLDC (NM_000170.2) | Caucasian | 1 in 140 | 1 in 410 | 66% |
| General population | 1 in 165 | 1 in 966 | 83% | ||
Glycogen Storage Disease, Type 1a |
G6PC (NM_000151.3) | Ashkenazi Jewish | 1 in 71 | 1 in 1401 | >95% |
| Asian | 1 in 192 | 1 in 3821 | >95% | ||
| Caucasian | 1 in 177 | 1 in 1957 | 91% | ||
| General population | 1 in 261 | 1 in 5201 | >95% | ||
Glycogen Storage Disease, Type II |
GAA (NM_000152.3) | African American | 1 in 70 | 1 in 1381 | >95% |
| Ashkenazi Jewish | 1 in 58 | 1 in 1141 | >95% | ||
| Asian | 1 in 112 | 1 in 2221 | >95% | ||
| Caucasian | 1 in 100 | 1 in 901 | 89% | ||
| General population | 1 in 132 | 1 in 2621 | >95% | ||
Glycogen Storage Disease, Type III |
AGL (NM_000028.2) | Faroese | 1 in 28 | 1 in 541 | >95% |
| General population | 1 in 158 | 1 in 3141 | >95% | ||
| Sephardic Jewish - Moroccan | 1 in 34 | 1 in 661 | >95% | ||
Glycogen Storage Disease, Type IV |
GBE1 (NM_000158.3) | Ashkenazi Jewish | 1 in 68 | 1 in 1341 | >95% |
| Caucasian | 1 in 144 | 1 in 478 | 70% | ||
| General population | 1 in 387 | 1 in 7721 | 95% | ||
Glycogen Storage Disease, Type Ib |
SLC37A4 (NM_001164277.1) | Caucasian | < 1 in 500 | 1 in 9981 | >95% |
| General population | 1 in 354 | 1 in 7061 | >95% | ||
Glycogen Storage Disease, Type V |
PYGM (NM_005609.2) | Caucasian | 1 in 191 | 1 in 3168 | 94% |
| General population | 1 in 191 | 1 in 3168 | 94% | ||
| Sephardic Jewish - Kurdish | 1 in 84 | 1 in 1661 | >95% | ||
Glycogen Storage Disease, Type VII |
PFKM (NM_000289.5) | Ashkenazi Jewish | 1 in 250 | 1 in 4981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Guanidinoacetate Methyltransferase Deficiency |
GAMT (NM_000156.5) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Portuguese | 1 in 125 | 1 in 2481 | >95% | ||
Hemophilia B, X-Linked |
F9 (NM_000133.3) | General population | 1 in 23000 | 1 in 120000 | 95% |
Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related |
MPV17 (NM_002437.4) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Navajo | 1 in 20 | 1 in 381 | >95% | ||
Hereditary Fructose Intolerance |
ALDOB (NM_000035.3) | African American | 1 in 406 | 1 in 8101 | >95% |
| Caucasian | 1 in 80 | 1 in 1581 | >95% | ||
| General population | 1 in 121 | 1 in 2401 | >95% | ||
| Hispanic | 1 in 275 | 1 in 5481 | >95% | ||
Hereditary Hemochromatosis, HFE2-Related |
HFE2 (NM_213653.3) | Caucasian | < 1 in 500 | 1 in 9981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Hereditary Hemochromatosis, TFR2-Related |
TFR2 (NM_003227.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Hereditary Spastic Paraparesis, Type 49 |
TECPR2 (NM_014844.4) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Bukharian | 1 in 27 | 1 in 521 | >95% | ||
Hermansky-Pudlak Syndrome, HPS1-Related |
HPS1 (NM_000195.4) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Puerto Rican | 1 in 59 | 1 in 1161 | >95% | ||
Hermansky-Pudlak Syndrome, HPS3-Related |
HPS3 (NM_032383.4) | Ashkenazi Jewish | 1 in 235 | 1 in 4681 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Holocarboxylase Synthetase Deficiency |
HLCS (NM_000411.6) | Asian | 1 in 158 | 1 in 2618 | 94% |
| Caucasian | <1 in 500 | 1 in 9981 | >95% | ||
| Faroese | 1 in 20 | 1 in 381 | >95% | ||
| General population | <1 in 500 | 1 in 9981 | >95% | ||
Homocystinuria due to Deficiency of MTHFR |
MTHFR (NM_ 005957.4) | Sephardic Jewish - Bukharian | 1 in 39 | 1 in 761 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Homocystinuria, CBS-Related |
CBS (NM_000071.2) | Caucasian | 1 in 52 | 1 in 1021 | >95% |
| General population | 1 in 293 | 1 in 5841 | >95% | ||
| Qatari | 1 in 21 | 1 in 401 | >95% | ||
Homocystinuria, Type cblE |
MTRR (NM_002454.2) | Caucasian | < 1 in 500 | 1 in 9981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Hydrolethalus Syndrome |
HYLS1 (NM_001134793.1) | Finnish | 1 in 50 | 1 in 981 | >95% |
| General population | 1 in 455 | 1 in 9081 | >95% | ||
Hypohidrotic Ectodermal Dysplasia, X-Linked |
EDA (NM_001399.4) | General population | 1 in 3800 | 1 in 76000 | 95% |
Hypophosphatasia |
ALPL (NM_000478.4) | Asian | 1 in 192 | 1 in 3821 | >95% |
| General population | 1 in 345 | 1 in 6881 | >95% | ||
| Mennonite | 1 in 25 | 1 in 481 | >95% | ||
Inclusion Body Myopathy 2 |
GNE (NM_005476.5) | Ashkenazi Jewish | < 1 in 500 | 1 in 9981 | >95% |
| Asian | 1 in 58 | 1 in 1141 | >95% | ||
| Caucasian | < 1 in 500 | 1 in 9981 | >95% | ||
| General population | 1 in 179 | 1 in 3561 | >95% | ||
| Sephardic Jewish - Iranian, Syrian | 1 in 10 | 1 in 181 | >95% | ||
Infantile Cerebral and Cerebellar Atrophy |
MED17 (NM_004268.4) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Bukharian, Kurdish | 1 in 20 | 1 in 381 | >95% | ||
Isovaleric Acidemia |
IVD (NM_002225.3) | Asian | 1 in 75 | 1 in 1481 | >95% |
| Caucasian | 1 in 144 | 1 in 2861 | >95% | ||
| General population | 1 in 158 | 1 in 3141 | >95% | ||
Joubert Syndrome 2 |
TMEM216 (NM_001173990.2) | Ashkenazi Jewish | 1 in 110 | 1 in 2181 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Juvenile Retinoschisis, X-Linked |
RS1 (NM_000330.3) | General population | 1 in 2500 | 1 in 50000 | >95% |
Krabbe Disease |
GALC (NM_000153.3) | Druze Northern Israel | 1 in 6 | 1 in 101 | >95% |
| General population | 1 in 158 | 1 in 3141 | >95% | ||
| Muslim Arab (Jerusalem) | 1 in 6 | 1 in 101 | >95% | ||
Lamellar Ichthyosis, Type I |
TGM1 (NM_000359.2) | Caucasian | 1 in 253 | 1 in 5041 | >95% |
| General population | 1 in 301 | 1 in 6001 | >95% | ||
| Norwegian | 1 in 151 | 1 in 3001 | >95% | ||
Leber Congenital Amaurosis, LCA5-Related |
LCA5 (NM_181714.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Leber Congenital Amaurosis, RPE65-Related |
RPE65 (NM_000329.2) | General population | 1 in 228 | 1 in 4541 | >95% |
| Sephardic Jewish - North African | 1 in 90 | 1 in 1781 | >95% | ||
Leber Congenital Amaurosis, Type CEP290-Related |
CEP290 (NM_025114.3) | General population | 1 in 185 | 1 in 3681 | >95% |
Leber Congential Amaurosis, RDH12-Related |
RDH12 (NM_152443.2) | General population | 1 in 456 | 1 in 9101 | >95% |
Leigh Syndrome, French-Canadian |
LRPPRC (NM_133259.3) | French Canadian - Saguenay Lac-St. Jean | 1 in 23 | 1 in 441 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Lethal Congenital Contracture Syndrome 1 |
GLE1 (NM_001003722.1) | Finnish | 1 in 100 | 1 in 1981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Leukoencephalopathy with Vanishing White Matter |
EIF2B5 (NM_003907.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Limb-Girdle Muscular Dystrophy, Type 2A |
CAPN3 (NM_000070.2) | Amish | 1 in 50 | 1 in 4901 | >99% |
| Asian | 1 in 238 | 1 in 4741 | >95% | ||
| Caucasian | 1 in 130 | 1 in 1291 | 90% | ||
| General population | 1 in 158 | 1 in 3141 | >95% | ||
| Hispanic | 1 in 260 | 1 in 5181 | >95% | ||
Limb-Girdle Muscular Dystrophy, Type 2B |
DYSF (NM_003494.3) | General population | 1 in 311 | 1 in 6201 | >95% |
| Sephardic Jewish - Libyan, Moroccan, Tunisian, Bulgarian | 1 in 14 | 1 in 261 | >95% | ||
Limb-Girdle Muscular Dystrophy, Type 2C |
SGCG (NM_000231.2) | General population | 1 in 354 | 1 in 2716 | 87% |
| Moroccan | 1 in 250 | 1 in 4981 | >95% | ||
| Roma | 1 in 96 | 1 in 1901 | >95% | ||
Limb-Girdle Muscular Dystrophy, Type 2D |
SGCA (NM_000023.2) | Caucasian | 1 in 290 | 1 in 5781 | >95% |
| Finnish | 1 in 150 | 1 in 2981 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Limb-Girdle Muscular Dystrophy, Type 2E |
SGCB (NM_000232.4) | Caucasian | 1 in 406 | 1 in 1126 | 64% |
| General population | <1 in 500 | 1 in 7130 | 93% | ||
Limb-Girdle Muscular Dystrophy, Type 2I |
FKRP (NM_024301.4) | General population | 1 in 158 | 1 in 3141 | >95% |
| Norwegian | 1 in 116 | 1 in 2301 | >95% | ||
Lipoid Congenital Adrenal Hyperplasia |
STAR (NM_000349.2) | East Asian | 1 in 177 | 1 in 3521 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Lipoprotein Lipase Deficiency |
LPL (NM_000237.2) | Asian | 1 in 189 | 1 in 571 | 67% |
| Caucasian | < 1 in 500 | 1 in 1560 | 68% | ||
| French Canadian - Other | 1 in 139 | 1 in 2761 | >95% | ||
| French Canadian - Saguenay Lac-St. Jean | 1 in 46 | 1 in 901 | >95% | ||
| General population | <1 in 500 | 1 in 9981 | >95% | ||
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency |
HADHA (NM_000182.4) | Caucasian | 1 in 254 | 1 in 5061 | >95% |
| General population | 1 in 351 | 1 in 7001 | >95% | ||
Lysinuric Protein Intolerance |
SLC7A7 (NM_001126106.2) | Finnish | 1 in 122 | 1 in 2421 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
| Japanese | 1 in 119 | 1 in 2361 | >95% | ||
MKS1-Related Disorders |
MKS1 (NM_017777.3) | Caucasian | 1 in 260 | 1 in 5181 | >95% |
| Finnish | 1 in 47 | 1 in 921 | >95% | ||
| General population | 1 in 260 | 1 in 5181 | >95% | ||
Maple Syrup Urine Disease, Type 1A |
BCKDHA (NM_000709.3) | Caucasian | 1 in 320 | 1 in 5318 | 94% |
| General population | 1 in 289 | 1 in 5761 | >95% | ||
| Mennonite | 1 in 10 | 1 in 181 | >95% | ||
| Portuguese Roma | 1 in 71 | 1 in 1401 | >95% | ||
Maple Syrup Urine Disease, Type 1B |
BCKDHB (NM_000056.3) | Ashkenazi Jewish | 1 in 97 | 1 in 1921 | >95% |
| Asian | 1 in 163 | 1 in 3241 | >95% | ||
| Caucasian | 1 in 433 | 1 in 8641 | >95% | ||
| General population | 1 in 327 | 1 in 6521 | >95% | ||
Medium Chain Acyl-CoA Dehydrogenase Deficiency |
ACADM (NM_000016.5) | Asian | 1 in 178 | 1 in 1042 | 83% |
| Caucasian | 1 in 55 | 1 in 772 | 93% | ||
| General population | 1 in 69 | 1 in 1361 | >95% | ||
Megalencephalic Leukoencephalopathy with Subcortical Cysts |
MLC1 (NM_015166.3) | General population | <1 in 500 | 1 in 9981 | >95% |
| Libyan Jewish | 1 in 40 | 1 in 781 | >95% | ||
Metachromatic Leukodystrophy, ARSA-Related |
ARSA (NM_000487.5) | Ashkenazi Jewish | <1 in 500 | 1 in 9981 | >95% |
| General population | 1 in 100 | 1 in 1981 | >95% | ||
| Navajo | 1 in 25 | 1 in 481 | >95% | ||
| Sephardic Jewish - Yemenite | 1 in 46 | 1 in 901 | >95% | ||
Metachromatic Leukodystrophy, PSAP-Related |
PSAP (NM_002778.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Methylmalonic Acidura, MUT-Related |
MUT (NM_000255.3) | African American | 1 in 177 | 1 in 3521 | >95% |
| Asian | 1 in 53 | 1 in 1041 | >95% | ||
| Caucasian | 1 in 224 | 1 in 4461 | >95% | ||
| General population | 1 in 383 | 1 in 7641 | >95% | ||
| Hispanic | 1 in 383 | 1 in 7641 | >95% | ||
Methylmalonic Aciduria, MMAA-Related |
MMAA (NM_172250.2) | Caucasian | 1 in 316 | 1 in 6301 | >95% |
| General population | 1 in 316 | 1 in 6301 | >95% | ||
Methylmalonic Aciduria, MMAB-Related |
MMAB (NM_052845.3) | Caucasian | 1 in 456 | 1 in 9101 | >95% |
| General population | 1 in 456 | 1 in 9101 | >95% | ||
Methylmalonic Aciduria, Type cblC |
MMACHC (NM_015506.2) | Asian | 1 in 113 | 1 in 2241 | >95% |
| Caucasian | 1 in 138 | 1 in 2741 | >95% | ||
| General population | 1 in 138 | 1 in 2741 | >95% | ||
Methylmalonic Aciduria, Type cblD |
MMADHC (NM_015702.2) | Caucasian | < 1 in 500 | 1 in 9981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Microphthalmia/Anophthalmia |
VSX2 (NM_182894.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Iranian, Syrian | 1 in 145 | 1 in 2881 | >95% | ||
Mitochondrial Complex 1 Deficiency, NDUFAF5-Related |
NDUFAF5 (NM_024120.4) | Ashkenazi Jewish | 1 in 290 | 1 in 5781 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Mitochondrial Complex 1 Deficiency, NDUFS6-Related |
NDUFS6 (NM_004553.4) | Caucasus Jewish | 1 in 24 | 1 in 461 | >95% |
| General population | < 1 in 500 | 1 in 7130 | 93% | ||
Mitochondrial Myopathy and Sideroblastic Anemia |
PUS1 (NM_025215.5) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Iranian | < 1 in 500 | 1 in 49901 | >99% | ||
Mucolipidosis III gamma |
GNPTG (NM_032520.4) | Caucasian | 1 In 273 | 1 in 4534 | 94% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Mucolipidosis, Type II/III Alpha/Beta |
GNPTAB (NM_024312.4) | Asian | 1 in 389 | 1 in 2426 | 84% |
| Caucasian | 1 in 225 | 1 in 4481 | 95% | ||
| General population | 1 in 408 | 1 in 8141 | >95% | ||
Mucolipidosis, Type IV |
MCOLN1 (NM_020533.2) | Ashkenazi Jewish | 1 in 89 | 1 in 1761 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Mucopolysaccharidosis, Type I (Hurler Syndrome) |
IDUA (NM_000203.4) | General population | 1 in 144 | 1 in 2861 | >95% |
Mucopolysaccharidosis, Type II (Hunter Syndrome), X-Linked |
IDS (NM_000202.6) | General population | 1 in 75000 | 1 in 540000 | 86% |
Mucopolysaccharidosis, Type IIIA (Sanfilippo A) |
SGSH (NM_000199.3) | Caucasian | 1 in 253 | 1 in 5041 | 95% |
| General population | 1 in 415 | 1 in 8281 | >95% | ||
Mucopolysaccharidosis, Type IIIB (Sanfilippo B) |
NAGLU (NM_000263.3) | Asian | 1 in 298 | 1 in 5941 | >95% |
| Caucasian | 1 in 346 | 1 in 1726 | 80% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Mucopolysaccharidosis, Type IIIC (Sanfilippo C) |
HGSNAT (NM_152419.2) | Asian | < 1 in 500 | 1 in 9981 | >95% |
| Caucasian | 1 in 259 | 1 in 3687 | 93% | ||
| General population | 1 in 482 | 1 in 9621 | >95% | ||
Mucopolysaccharidosis, Type IIID |
GNS (NM_002076.3) | General population | < 1 in 500 | 1 in 4991 | 90% |
Mucopolysaccharidosis, Type IX |
HYAL1 (NM_153281.1) | General population | < 1 in 500 | 1 in 9981 | >95% |
Mucopolysaccharidosis, Type VI (Maroteaux-Lamy) |
ARSB (NM_000046.3) | Asian | 1 in 423 | 1 in 8441 | >95% |
| Caucasian | 1 in 273 | 1 in 5441 | >95% | ||
| General population | 1 in 291 | 1 in 5801 | >95% | ||
Multiple Sulfatase Deficiency |
SUMF1 (NM_182760.3) | Ashkenazi Jewish | 1 in 279 | 1 in 5561 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Muscle-Eye- Brain Disease, POMGNT1-Related |
POMGNT1 (NM_017739.3) | Finnish | 1 in 111 | 1 in 2201 | >95% |
| General population | 1 in 462 | 1 in 9221 | 95% | ||
Myoneurogastrointestinal Encephalopathy (MNGIE) |
TYMP (NM_001953.4) | Caucasian | <1 in 500 | 1 in 9981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
| Sephardic Jewish - Iranian | 1 in 158 | 1 in 3141 | >95% | ||
Myotubular Myopathy, MTM1-Related, X-Linked |
MTM1 (NM_000252.2) | General population | 1 in 38000 | 1 in 760000 | >95% |
N-acetylglutamate Synthase Deficiency |
NAGS (NM_153006.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Nemaline Myopathy 2 |
NEB (NM_004543.4) | Ashkenazi Jewish | 1 in 168 | 1 in 3341 | >95% |
| Finnish | 1 in 112 | 1 in 445 | 75% | ||
| General population | 1 in 224 | 1 in 3718 | 94% | ||
Nephrotic Syndrome, Type 1 |
NPHS1 (NM_004646.3) | Finnish | 1 in 45 | 1 in 881 | >95% |
| General population | 1 in 325 | 1 in 6481 | >95% | ||
| Groffdale Conference Mennonites | 1 in 12 | 1 in 221 | >95% | ||
Neuronal Ceroid LIpofuscinosis, CLN3-Related |
CLN3 (NM_000086.2) | Caucasian | 1 in 188 | 1 in 3741 | >95% |
| General population | 1 in 233 | 1 in 4641 | >95% | ||
Neuronal Ceroid Lipofuscinosis, CLN5-Related |
CLN5 (NM_006493.2) | Finnish | 1 in 100 | 1 in 1981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Neuronal Ceroid Lipofuscinosis, CLN6-Related |
CLN6 (NM_017882.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Neuronal Ceroid Lipofuscinosis, CLN8-Related |
CLN8 (NM_018941.3) | Finnish | 1 in 135 | 1 in 2681 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Neuronal Ceroid Lipofuscinosis, MFSD8-Related |
MFSD8 (NM_152778.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Neuronal Ceroid Lipofuscinosis, PPT1-Related |
PPT1 (NM_000310.3) | Finnish | 1 in 70 | 1 in 1381 | >95% |
| General population | 1 in 368 | 1 in 7341 | >95% | ||
Neuronal Ceroid Lipofuscinosis, TPP1-Related |
TPP1 (NM_000391.3) | General population | 1 in 314 | 1 in 6261 | >95% |
| Newfoundland | 1 in 59 | 1 in 1161 | >95% | ||
Niemann-Pick Disease, Type CI/D |
NPC1 (NM_000271.4) | Asian | 1 in 404 | 1 in 2688 | 85% |
| Caucasian | 1 in 185 | 1 in 3681 | >95% | ||
| General population | 1 in 282 | 1 in 5621 | >95% | ||
Niemann-Pick Disease, Type CII |
NPC2 (NM_006432.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Niemann-Pick Disease, Types A/B |
SMPD1 (NM_000543.4) | Ashkenazi Jewish | 1 in 115 | 1 in 2281 | >95% |
| Caucasian | 1 in 244 | 1 in 4861 | >95% | ||
| General population | 1 in 196 | 1 in 3901 | >95% | ||
Nijmegen Breakage Syndrome |
NBN (NM_002485.4) | Caucasian | 1 in 155 | 1 in 3081 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Nonsyndromic Hearing Loss, GJB2-Related |
GJB2 (NM_004004.5) | Ashkenazi Jewish | 1 in 21 | 1 in 401 | >95% |
| Asian | 1 in 50 | 1 in 981 | >95% | ||
| Caucasian | 1 in 42 | 1 in 821 | >95% | ||
| General population | 1 in 43 | 1 in 841 | >95% | ||
Occipital Horn Syndrome (Motor neuropathy, distal), X-Linked |
ATP7A (NM_000052.6) | General population | 1 in 75000 | 1 in 580000 | 87% |
Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome |
WNT10A (NM_025216.2) | General population | 1 in 305 | 1 in 6081 | >95% |
Omenn Syndrome |
DCLRE1C (NM_001033855.1) | General population | < 1 in 500 | 1 in 2627 | 81% |
| Navajo and Apache Native Americans | 1 in 48 | 1 in 941 | >95% | ||
Omenn Syndrome, RAG2-Related |
RAG2 (NM_000536.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Iraqi | < 1 in 500 | 1 in 49901 | >99% | ||
Ornithine Aminotransferase Deficiency |
OAT (NM_000274.3) | Finnish | 1 in 147 | 1 in 2921 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
| Sephardic Jewish - Iraqi, Syrian | 1 in 177 | 1 in 3521 | >95% | ||
Ornithine Transcarbamylase Deficiency, X-Linked |
OTC (NM_000531.5) | General population | < 1 in 30000 | 1 in 600000 | 95% |
Ornithine Translocase Deficiency |
SLC25A15 (NM_014252.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Metis from Saskatchewan | 1 in 19 | 1 in 361 | >95% | ||
Osteopetrosis, Infantile Malignant, TCIRG1-Related |
TCIRG1 (NM_006019.2) | Ashkenazi Jewish | 1 in 350 | 1 in 6981 | >95% |
| Chuvashiya | 1 in 60 | 1 in 1181 | >95% | ||
| Costa Rican | 1 in 86 | 1 in 1701 | >95% | ||
| General population | 1 in 316 | 1 in 6301 | 95% | ||
PROP1-Related Combined Pituitary Hormone Deficiency |
PROP1 (NM_006261.4) | General population | 1 in 141 | 1 in 2801 | >95% |
Pendred Syndrome |
SLC26A4 (NM_000441.1) | African American | 1 in 76 | 1 in 1501 | >95% |
| Asian | 1 in 74 | 1 in 1461 | >95% | ||
| Caucasian | 1 in 88 | 1 in 1244 | 93% | ||
| General population | 1 in 80 | 1 in 1581 | >95% | ||
Phenylalanine Hydroxylase Deficiency |
PAH (NM_000277.1) | African American | 1 in 143 | 1 in 2841 | >95% |
| Ashkenazi Jewish | 1 in 225 | 1 in 3201 | 93% | ||
| Asian | 1 in 78 | 1 in 1541 | >95% | ||
| Caucasian | 1 in 50 | 1 in 981 | >95% | ||
| General population | 1 in 65 | 1 in 1281 | >95% | ||
| Irish | 1 in 34 | 1 in 413 | 92% | ||
| Sephardic Jewish - Iranian, Bukharian, Kavkazi, Tunisian, Moroccan | 1 in 18 | 1 in 190 | 91% | ||
| Sicilian | 1 in 26 | 1 in 501 | >95% | ||
| Turkish | 1 in 32 | 1 in 621 | >95% | ||
Pontocerebellar Hypoplasia, RARS2-Related |
RARS2 (NM_020320.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Iraqi, Syrian, Tunisian | < 1 in 500 | 1 in 49901 | >99% | ||
Pontocerebellar Hypoplasia, VRK1-Related |
VRK1 (NM_003384.2) | Ashkenazi Jewish | 1 in 225 | 1 in 4481 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Primary Ciliary Dyskinesia, DNAH5-Related |
DNAH5 (NM_001369.2) | Ashkenazi Jewish | 1 in 174 | 1 in 3461 | >95% |
| General population | 1 in 120 | 1 in 2381 | >95% | ||
Primary Ciliary Dyskinesia, DNAI1-Related |
DNAI1 (NM_012144.3) | Ashkenazi Jewish | 1 in 352 | 1 in 7021 | >95% |
| General population | 1 in 182 | 1 in 3621 | >95% | ||
Primary Ciliary Dyskinesia, DNAI2-Related |
DNAI2 (NM_023036.4) | Ashkenazi Jewish | 1 in 200 | 1 in 3981 | >95% |
| General population | <1 in 500 | 1 in 9981 | >95% | ||
Primary Hyperoxaluria, Type I |
AGXT (NM_000030.2) | General population | 1 in 158 | 1 in 3141 | >95% |
Primary Hyperoxaluria, Type II |
GRHPR (NM_012203.1) | General population | < 1 in 500 | 1 in 9981 | >95% |
Primary Hyperoxaluria, Type III |
HOGA1 (NM_138413.3) | General population | 1 in 309 | 1 in 6161 | >95% |
Progressive Cerebello-Cerebral Atrophy |
SEPSECS (NM_016955.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Moroccan, Iraqi | 1 in 41 | 1 in 801 | >95% | ||
Progressive Familial Intrahepatic Cholestasis, Type II |
ABCB11 (NM_003742.2) | General population | 1 in 158 | 1 in 3141 | >95% |
Propionic Acidemia, PCCA-Related |
PCCA (NM_000282.3) | Asian | 1 in 162 | 1 in 1611 | 90% |
| Caucasian | 1 in 380 | 1 in 1405 | 73% | ||
| General population | 1 in 224 | 1 in 1488 | 85% | ||
Propionic Acidemia, PCCB-Related |
PCCB (NM_000532.4) | Asian | 1 in 145 | 1 in 2881 | >95% |
| Caucasian | 1 in 202 | 1 in 1676 | 88% | ||
| General population | 1 in 224 | 1 in 4461 | >95% | ||
Pycnodysostosis |
CTSK (NM_000396.3) | General population | 1 in 438 | 1 in 8741 | >95% |
Pyruvate Dehydrogenase Deficiency, PDHA1-Related, X-Linked |
PDHA1 (NM_000284.3) | General population | < 1 in 750000 | 1 in 1000000 | 94% |
Pyruvate Dehydrogenase Deficiency, PDHB-Related |
PDHB (NM_000925.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Renal Tubular Acidosis and Deafness, ATP6V1B1-Related |
ATP6V1B1 (NM_001692.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Syrian | 1 in 140 | 1 in 2781 | >95% | ||
Retinitis Pigmentosa 25 |
EYS (NM_001142800.1) | Ashkenazi Jewish | < 1 in 500 | 1 in 9981 | >95% |
| Caucasian | 1 in 53 | 1 in 187 | 72% | ||
| General population | 1 in 129 | 1 in 1601 | 92% | ||
| Sephardic Jewish - Moroccan | 1 in 42 | 1 in 821 | >95% | ||
Retinitis Pigmentosa 26 |
CERKL (NM_001030311.2) | General population | 1 in 137 | 1 in 2721 | >95% |
| Sephardic Jewish - Yemenite | 1 in 24 | 1 in 461 | >95% | ||
Retinitis Pigmentosa 28 |
FAM161A (NM_032180.2) | Ashkenazi Jewish | 1 in 214 | 1 in 4261 | >95% |
| General population | 1 in 289 | 1 in 5761 | >95% | ||
| Sephardic Jewish - Libyan, Moroccan, Tunisian, Bulgarian | 1 in 41 | 1 in 801 | >95% | ||
Retinitis Pigmentosa 59 |
DHDDS (NM_024887.3) | Ashkenazi Jewish | 1 in 117 | 1 in 2321 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Rhizomelic Chondrodysplasia Punctata, Type 1 |
PEX7 (NM_000288.3) | Caucasian | 1 in 158 | 1 in 3141 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Rhizomelic Chondrodysplasia Punctata, Type III |
AGPS (NM_003659.3) | General population | <1 in 500 | 1 in 7130 | 93% |
Riboflavin Responsive Complex 1 Deficiency (Acyl-CoEnzyme Dehydrogenase 9 Deficiency) |
ACAD9(NM014049.4) | General population | < 1 in 500 | 1 in 9981 | >95% |
Roberts Syndrome |
ESCO2 (NM_001017420.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
SLC26A2-Related Skeletal Dysplasias |
SLC26A2 (NM_000112.3) | Finnish | 1 in 50 | 1 in 981 | >95% |
| General population | 1 in 158 | 1 in 3141 | >95% | ||
Salla Disease |
SLC17A5 (NM_012434.4) | Canadian Inuit | 1 in 129 | 1 in 2561 | >95% |
| Finnish | 1 in 100 | 1 in 1981 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
| Swedish | 1 in 125 | 1 in 2481 | >95% | ||
Sandhoff Disease |
HEXB (NM_000521.3) | Argentinian Creole | 1 in 26 | 1 in 501 | >95% |
| Caucasian | 1 in 235 | 1 in 4681 | >95% | ||
| General population | 1 in 180 | 1 in 3581 | >95% | ||
| Metis from Saskatchewan | 1 in 15 | 1 in 281 | >95% | ||
Schimke Immunoosseous Dysplasia |
SMARCAL1 (NM_014140.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Severe Combined Immunodeficiency, IL2RG-Related, X-Linked |
IL2RG (NM_000206.2) | General population | 1 in 38000 | 1 in 760000 | >95% |
Sjogren-Larsson Syndrome |
ALDH3A2 (NM_000382.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Swedish | 1 in 205 | 1 in 4081 | >95% | ||
Smith-Lemli-Opitz Syndrome |
DHCR7 (NM_001360.2) | African American | 1 in 93 | 1 in 1841 | >95% |
| Ashkenazi Jewish | 1 in 41 | 1 in 801 | >95% | ||
| Asian | < 1 in 500 | 1 in 9981 | >95% | ||
| Caucasian | 1 in 48 | 1 in 941 | >95% | ||
| General population | 1 in 68 | 1 in 1341 | >95% | ||
Spastic Ataxia of Charlevoix-Saguenay (ARSACS) |
SACS (NM_014363.5) | Caucasian | 1 in 450 | 1 in 8981 | >95% |
| French Canadian - Charlevoix-Saguenay | 1 in 21 | 1 in 401 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Spinal Muscular Atrophy |
SMN1 (NM_000344.3) | African American | 1 in 66 | 2 copies (snp absent) 1 in 396; 3 or more copies 1 in 3000 | > 71% |
| Ashkenazi Jewish | 1 in 41 | 2 copies (snp absent) 1 in 580; 3 or more copies 1 in 4000 | 94% | ||
| Asian | 1 in 53 | 2 copies (snp absent) 1 in 702; 3 or more copies 1 in 5000 | 93% | ||
| Caucasian | 1 in 35 | 2 copies (snp absent) 1 in 769; 3 or more copies 1 in 3500 | > 95% | ||
| General population | 1 in 54 | 1/589 (2 copy) | 91% | ||
| Hispanic | 1 in 117 | 2 copies (snp absent) 1 in 1762; 3 or more copies 1 in 11000 | >91% | ||
Spondylothoracic Dysostosis |
MESP2 (NM_001039958.1) | General population | 1 in 224 | 1 in 4461 | >95% |
| Puerto Rican | 1 in 55 | 1 in 1081 | >95% | ||
Steroid-Resistant Nephrotic Syndrome |
NPHS2 (NM_014625.3) | General population | 1 in 377 | 1 in 7521 | >95% |
Stuve-Wiedemann Syndrome |
LIFR (NM_002310.5) | General population | < 1 in 500 | 1 in 9981 | >95% |
Tay-Sachs Disease |
HEXA (NM_000520.4) | African American | 1 in 271 | 1 in 5401 | >95% |
| Ashkenazi Jewish | 1 in 27 | 1 in 521 | >95% | ||
| Asian | 1 in 126 | 1 in 1390 | 91% | ||
| Caucasian | 1 in 182 | 1 in 3621 | >95% | ||
| French Canadian - Gaspesie | 1 in 13 | 1 in 241 | >95% | ||
| French Canadian - Other | 1 in 73 | 1 in 1441 | >95% | ||
| General population | 1 in 288 | 1 in 5741 | >95% | ||
| Irish | 1 in 41 | 1 in 801 | >95% | ||
| Sephardic Jewish - Moroccan, Iraqi | 1 in 125 | 1 in 2481 | >95% | ||
Tyrosine Hydroxylase Deficiency |
TH (NM_000360.3) | Asian | 1 in 416 | 1 in 8301 | >95% |
| Caucasian | 1 in 224 | 1 in 4461 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Tyrosinemia, Type I |
FAH (NM_000137.2) | African American | 1 in 478 | 1 in 9541 | >95% |
| Ashkenazi Jewish | 1 in 143 | 1 in 2841 | >95% | ||
| Asian | < 1 in 500 | 1 in 9981 | >95% | ||
| Caucasian | 1 in 333 | 1 in 6641 | >95% | ||
| French Canadian | 1 in 66 | 1 in 1301 | >95% | ||
| French Canadian - Saguenay Lac-St. Jean | 1 in 25 | 1 in 481 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Usher Syndrome, Type 1B |
MYO7A (NM_000260.3) | African American | < 1 in 500 | 1 in 9981 | >95% |
| Asian | 1 in 62 | 1 in 1221 | >95% | ||
| Caucasian | 1 in 145 | 1 in 2058 | 93% | ||
| General population | 1 in 206 | 1 in 4101 | >95% | ||
Usher Syndrome, Type 1D |
CDH23 (NM_022124.5) | General population | 1 in 306 | 1 in 6101 | >95% |
Usher Syndrome, Type 1F |
PCDH15 (NM_001142764.1) | Ashkenazi Jewish | 1 in 78 | 1 in 1541 | >95% |
| General population | 1 in 395 | 1 in 692 | 43% | ||
Usher Syndrome, Type IC |
USH1C (NM_005709.3) | French Canadian / Acadian | 1 in 227 | 1 in 4521 | >95% |
| General population | 1 in 353 | 1 in 7041 | >95% | ||
Usher Syndrome, Type IIA |
USH2A (NM_206933.2) | Caucasian | 1 in 73 | 1 in 601 | 88% |
| General population | 1 in 126 | 1 in 2501 | >95% | ||
| Sephardic Jewish - Iraqi, Iranian | 1 in 36 | 1 in 141 | 75% | ||
Usher Syndrome, Type III |
CLRN1 (NM_174878.2) | Ashkenazi Jewish | 1 in 120 | 1 in 2381 | >95% |
| Finnish | 1 in 70 | 1 in 1381 | >95% | ||
| General population | 1 in 500 | 1 in 9981 | >95% | ||
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency |
ACADVL (NM_000018.3) | Asian | 1 in 194 | 1 in 2758 | 93% |
| Caucasian | 1 in 88 | 1 in 1741 | >95% | ||
| General population | 1 in 146 | 1 in 2901 | >95% | ||
Walker-Warburg Syndrome, FKTN-Related |
FKTN (NM_001079802.1) | Ashkenazi Jewish | 1 in 80 | 1 in 1581 | >95% |
| General population | < 1 in 500 | 1 in 625 | 20% | ||
| Japanese | 1 in 188 | 1 in 198 | 5% | ||
Wilson Disease |
ATP7B (NM_000053.3) | Ashkenazi Jewish | 1 in 67 | 1 in 1321 | >95% |
| Asian | 1 in 50 | 1 in 981 | >95% | ||
| Canary Islands | 1 in 25 | 1 in 481 | >95% | ||
| Caucasian | 1 in 90 | 1 in 1781 | >95% | ||
| General population | 1 in 90 | 1 in 1781 | >95% | ||
| Sardinian | 1 in 42 | 1 in 821 | >95% | ||
| Sephardic Jewish - North African, Iraqi, Yemenite, Iranian, Bukharian | 1 in 65 | 1 in 1281 | >95% | ||
Zellweger Spectrum Disorders, PEX1-Related |
PEX1 (NM_000466.2) | Caucasian | 1 in 147 | 1 in 2921 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Zellweger Spectrum Disorders, PEX10-Related |
PEX10 (NM_153818.1) | Asian | < 1 in 500 | 1 in 9981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Zellweger Spectrum Disorders, PEX2-Related |
PEX2 (NM_001079867.1) | Ashkenazi Jewish | 1 in 227 | 1 in 4521 | >95% |
| Caucasian | < 1 in 500 | 1 in 9981 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Zellweger Spectrum Disorders, PEX6-Related |
PEX6 (NM_000287.3) | French Canadian | 1 in 55 | 1 in 1081 | >95% |
| General population | 1 in 280 | 1 in 5581 | >95% | ||
| Sephardic Jewish - Yemenite | 1 in 18 | 1 in 341 | >95% |
Please note these tests were developed and their performance characteristics were determined by Baylor Miraca Genetics Laboratories, 2450 Holcombe Blvd, Ste O100, Houston, TX 77021 (CLIA ID number 45D0660090). A portion of the technical component of these tests may have been performed at 106 East Sixth Street, Suite 934, Austin, TX 78701 (CLIA ID number 45D2093704). They have not been cleared or approved by the FDA. These analyses generally provide highly accurate information regarding the patient’s carrier status. Despite this high level of accuracy, it should be kept in mind that there are many potential sources of diagnostic error, including misidentification of samples, polymorphisms, or other rare genetic variants that interfere with analysis. Families should understand that rare diagnostic errors may occur for these reasons.