53 available tests for gene carrier status

Posted on July 31, 2018 at 8:50 PM


Agenesis of the Corpus Callosum with Peripheral Neuropathy (ACCPN)

Alpha-1 Antitrypsin Deficiency

Autosomal Recessive Polycystic Kidney Disease

BRCA Cancer Mutations (Selected)

Beta Thalassemia

Bloom's Syndrome

Canavan Disease

Congenital Disorder of Glycosylation Type 1a (PMM2-CDG)

Connexin 26-Related Sensorineural Hearing Loss

Cystic Fibrosis

D-Bifunctional Protein Deficiency

DPD Deficiency

Dihydrolipoamide Dehydrogenase Deficiency

Factor XI Deficiency

Familial Dysautonomia

Familial Hypercholesterolemia Type B

Familial Hyperinsulinism (ABCC8-related)

Familial Mediterranean Fever

Fanconi Anemia (FANCC-related)

G6PD Deficiency

GRACILE Syndrome

Gaucher Disease

Glycogen Storage Disease Type 1a

Glycogen Storage Disease Type 1b

Haemochromatosis (HFE related)

Hereditary Fructose Intolerance

Hypertrophic Cardiomyopathy (MYBPC3 25bp-deletion)

LAMB3-related Junctional Epidermolysis Bullosa

Leigh Syndrome, French Canadian Type (LSFC)

Limb-girdle Muscular Dystrophy

Maple Syrup Urine Disease Type 1B

Medium-Chain Acyl-CoA Dehydrogenase (MCAD)

Mucolipidosis IV

Neuronal Ceroid Lipofuscinosis (CLN5- related)

Neuronal Ceroid Lipofuscinosis (PPT1-related)

Niemann-Pick Disease Type A

Nijmegen Breakage Syndrome

Pendred Syndrome


Primary Hyperoxaluria Type 2 (PH2)

Rhizomelic Chondrodysplasia Punctata Type 1 (RCDP1)

Salla Disease

Sickle Cell Anemia & Malaria Resistance

Sjögren-Larsson Syndrome

TTR-Related Cardiac Amyloidosis

TTR-Related Familial Amyloid Polyneuropathy

Tay-Sachs Disease

Torsion Dystonia

Tyrosinemia Type I

Usher Syndrome Type I (PCDH15-related)

Usher Syndrome Type III

Zellweger Syndrome Spectrum.

Ref: Viamedex Genetic and Drug Testing Laboratory;

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