- ARSACS
1 variant in the SACS gene; relevant for French Canadian descent
- Agenesis of the Corpus Callosum with Peripheral Neuropathy
1 variant in the SLC12A6 gene; relevant for French Canadian descent
- Autosomal Recessive Polycystic Kidney Disease
3 variants in the PKHD1 gene
- Beta Thalassemia and Related Hemoglobinopathies
10 variants in the HBB gene; relevant for Sardinian, Cypriot, Italian/Sicilian, Greek descent
- Bloom Syndrome
1 variant in the BLM gene; relevant for Ashkenazi Jewish descent
- Canavan Disease
3 variants in the ASPA gene; relevant for Ashkenazi Jewish descent
- Congenital Disorder of Glycosylation Type 1a (PMM2-CDG)
2 variants in the PMM2 gene; relevant for Ashkenazi Jewish, Danish descent
- Cystic Fibrosis
29 variants in the CFTR gene; relevant for Ashkenazi Jewish, European, Hispanic/Latino descent
- D-Bifunctional Protein Deficiency
2 variants in the HSD17B4 gene
- Dihydrolipoamide Dehydrogenase Deficiency
1 variant in the DLD gene; relevant for Ashkenazi Jewish descent
- Familial Dysautonomia
1 variant in the ELP1 gene; relevant for Ashkenazi Jewish descent
- Familial Hyperinsulinism (ABCC8-Related)
3 variants in the ABCC8 gene; relevant for Ashkenazi Jewish descent
- Familial Mediterranean Fever
7 variants in the MEFV gene; relevant for Arab, Armenian, Sephardic Jewish, Turkish descent
- Fanconi Anemia Group C
3 variants in the FANCC gene; relevant for Ashkenazi Jewish descent
- GRACILE Syndrome
1 variant in the BCS1L gene; relevant for Finnish descent
- Gaucher Disease Type 1
3 variants in the GBA (also known as GBA1) gene; relevant for Ashkenazi Jewish descent
- Glycogen Storage Disease Type Ia
1 variant in the G6PC gene; relevant for Ashkenazi Jewish descent
- Glycogen Storage Disease Type Ib
2 variants in the SLC37A4 gene
- Hereditary Fructose Intolerance
4 variants in the ALDOB gene; relevant for European descent
- Leigh Syndrome, French Canadian Type
1 variant in the LRPPRC gene; relevant for French Canadian descent
- Limb-Girdle Muscular Dystrophy Type 2D
1 variant in the SGCA gene
- Limb-Girdle Muscular Dystrophy Type 2E
1 variant in the SGCB gene; relevant for Amish descent
- Limb-Girdle Muscular Dystrophy Type 2I
1 variant in the FKRP gene
- MCAD Deficiency
4 variants in the ACADM gene; relevant for European descent
- Maple Syrup Urine Disease Type 1B
2 variants in the BCKDHB gene; relevant for Ashkenazi Jewish descent
- Mucolipidosis Type IV
1 variant in the MCOLN1 gene; relevant for Ashkenazi Jewish descent
- Neuronal Ceroid Lipofuscinosis (CLN5-Related)
1 variant in the CLN5 gene; relevant for Finnish descent
- Neuronal Ceroid Lipofuscinosis (PPT1-Related)
3 variants in the PPT1 gene; relevant for Finnish descent
- Niemann-Pick Disease Type A
3 variants in the SMPD1 gene; relevant for Ashkenazi Jewish descent
- Nijmegen Breakage Syndrome
1 variant in the NBN gene
- Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2-Related)
8 variants in the GJB2 gene; relevant for many ethnicities, including Ashkenazi Jewish, East/Southeast Asian, European, and Ghanaian descent. May also be relevant for Hispanic/Latino, Northern African/Middle Eastern, and South Asian descent
- Pendred Syndrome and DFNB4 Hearing Loss (SLC26A4-Related)
6 variants in the SLC26A4 gene
- Phenylketonuria and Related Disorders
23 variants in the PAH gene; relevant for Irish, Northern European descent
- Pompe Disease
5 variants in the GAA gene; relevant for African/African American descent; variants also common in European descent
- Primary Hyperoxaluria Type 2
1 variant in the GRHPR gene
- Pyruvate Kinase Deficiency
1 variant in the PKLR gene
- Rhizomelic Chondrodysplasia Punctata Type 1
1 variant in the PEX7 gene
- Salla Disease
1 variant in the SLC17A5 gene; relevant for Finnish, Swedish descent
- Severe Junctional Epidermolysis Bullosa (LAMB3-Related)
3 variants in the LAMB3 gene
- Sickle Cell Anemia
1 variant in the HBB gene; relevant for African, Middle Eastern, South Asian, Caribbean, Mediterranean, Central and South American descent
- Sjögren-Larsson Syndrome
1 variant in the ALDH3A2 gene; relevant for Swedish descent
- Tay-Sachs Disease
4 variants in the HEXA gene; relevant for Ashkenazi Jewish, Cajun descent
- Tyrosinemia Type I
4 variants in the FAH gene; relevant for French Canadian, Finnish descent
- Usher Syndrome Type 1F
1 variant in the PCDH15 gene; relevant for Ashkenazi Jewish descent
- Usher Syndrome Type 3A
1 variant in the CLRN1 gene; relevant for Ashkenazi Jewish descent
- Zellweger Spectrum Disorder (PEX1-Related)
1 variant in the PEX1 gene