-
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 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 IKBKAP
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
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
-
Herlitz Junctional Epidermolysis Bullosa (LAMB3-Related)
3 variants in the LAMB3
gene
-
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)
2 variants in the GJB2
gene; relevant for Ashkenazi Jewish, European 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
-
Primary Hyperoxaluria Type 2
1 variant in the GRHPR
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
-
Sickle Cell Anemia
1 variant in the HBB
gene; relevant for African American, African 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 Syndrome Spectrum (PEX1-Related)
1 variant in the PEX1
gene