Carrier Status Tests

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Carrier Status Tests Overview
Table of Contents

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

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