Carrier Status Tests

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    Carrier status tests can test for conditions you may be a carrier for. Carrier screening panels use blood, saliva, or urine to test your genes to see if you’re a carrier for a genetic disorder. 

    Just because you’re a carrier for the condition doesn’t mean you’ll actually get the condition. It takes two genes of a condition for its symptoms to manifest themselves in a person.

    The most common reason to know if you’re a carrier is to inform yourself and family members (especially children) on the odds of developing a condition. 

    ConditionsTested by Carrier Status Tests

    The most common conditions tested by carrier status tests include:

    • Agenesis of the Corpus Callosum with Peripheral Neuropathy
    • ARSACS
    • Autosomal Recessive Polycystic Kidney Disease
    • Beta Thalassemia and Related Hemoglobinopathies
    • Bloom Syndrome
    • Canavan Disease
    • Congenital Disorder of Glycosylation Type 1a 
    • Cystic Fibrosis
    • D-Bifunctional Protein Deficiency
    • Dihydrolipoamide Dehydrogenase Deficiency
    • Familial Dysautonomia
    • Familial Hyperinsulinism
    • Familial Mediterranean Fever
    • Fanconi Anemia Group C
    • Gaucher Disease Type 1
    • Glycogen Storage Disease Type Ia
    • Glycogen Storage Disease Type Ib
    • GRACILE Syndrome
    • Hereditary Fructose Intolerance
    • Herlitz Junctional Epidermolysis Bullosa 
    • Leigh Syndrome, French Canadian Type
    • Limb-Girdle Muscular Dystrophy Type 2D
    • Limb-Girdle Muscular Dystrophy Type 2E
    • Limb-Girdle Muscular Dystrophy Type 2I
    • Maple Syrup Urine Disease Type 1B
    • MCAD Deficiency
    • Mucolipidosis Type IV
    • Neuronal Ceroid Lipofuscinosis 
    • Neuronal Ceroid Lipofuscinosis 
    • Niemann-Pick Disease Type A
    • Nijmegen Breakage Syndrome
    • Nonsyndromic Hearing Loss and Deafness
    • Pendred Syndrome and DFNB4 Hearing Loss 
    • Phenylketonuria
    • Primary Hyperoxaluria Type 2
    • Rhizomelic Chondrodysplasia Punctata Type 1
    • Salla Disease
    • Sickle Cell Anemia
    • Sjögren-Larsson Syndrome
    • Tay-Sachs Disease
    • Tyrosinemia Type I
    • Usher Syndrome Type 1F
    • Usher Syndrome Type 3A
    • Zellweger Syndrome Spectrum 

    Carrier Status Test Providers

    If you’re worried about your carrier status, you can contact one of the below companies to order a genetic testing kit. The main providers of these tests include:

    • 23andMe
    • AncestryDNA + Ancestry Health
    • Integrated Genetics
    • Centogene
    • Progenity