Carrier Status Testing

$ 799.00 $

Product Description

  • Test for 120 autosomal recessive conditions


Are you a carrier for a disease which could be passed to you children? Our carrier status test will test for 120 autosomal recessive conditions.

Autosomal diseases are caused by a mutation in a single gene. Autosomal recessive diseases, however, do not affect the carrier, but could possibly be passed to the next generation if both parents are carriers. If both parents are carriers, than the risk of their child having the disease is 25%.

Understanding Recessive Diseases

In an autosomal recessive scenario, both copies of a gene need to be mutated in order for the disease to be expressed. This means that the disease will occur in that person’s life, and in most cases regardless of environmental factors. These mutations can be carried in families for generations without detection.

Look at the diagram to the right:

As you can see in the family on the right side both mother and father are carriers. The reason they don’t have the disease is that they need two copies of the mutated gene in order for the disease to be expressed.

If this couple has a child, they would have a 25 % chance of having a normal child who isn’t a carrier, 50% chance of having a child who is a carrier (someone who is like them), and 25 % chance of having a child that will express the disease. Remember we inherit 2 copies of each gene, one from our father and one from our mother. Since we inherit 2 copies of each gene if one of the copies is not mutated then they are usually safe.

Testing is available for the following diseases:

  • 21-Hydroxylase-deficient congenital adrenal hyperplasia
  • 3-Methylcrotonyl-CoA carboxylase deficiency


  • Achromatopsia
  • Acrodermatitis enteropathica
  • Alkaptonuria
  • Alpha-1 antitrypsin deficiency
  • Alpha-mannosidosis
  • Amyotrophic lateral sclerosis
  • Andermann syndrome
  • Argininosuccinate lyase deficiency
  • Aspartylglucosaminuria
  • Ataxia with vitamin E deficiency
  • Ataxia-telangiectasia
  • Autoimmune polyglandular syndrome, type I


  • Bardet-Biedl syndrome, BBS1-related
  • Bartter syndrome type 4A
  • Beta-ketothiolase deficiency
  • Beta-thalassemia
  • Biotinidase deficiency
  • Bloom syndrome


  • Canavan disease
  • Carnitine deficiency, primary systemic
  • Carnitine palmitoyltransferase II deficiency
  • Cartilage-hair hypoplasia
  • Cerebrotendinous xanthomatosis
  • Choroideremia
  • Citrullinemia, type I
  • Cohen syndrome
  • Combined pituitary hormone deficiency, PROP1-related
  • Congenital disorder of glycosylation type Ia
  • Costeff optic atrophy syndrome
  • Crigler-Najjar syndrome
  • Cystic fibrosis
  • Cystinosis


  • Diabetes, permanent neonatal
  • Dihydropyrimidine dehydrogenase deficiency
  • Dubin-Johnson syndrome


  • Ehlers-Danlos syndrome, dermatosparaxis
  • Ehlers-Danlos syndrome, hypermobility
  • Ehlers-Danlos syndrome, kyphoscoliotic


  • Factor V Leiden thrombophilia
  • Factor XI deficiency
  • Familial Mediterranean fever
  • Familial dysautonomia
  • Fanconi anemia


  • Galactokinase deficiency
  • Galactosemia
  • Gaucher disease
  • Glutaric acidemia, type 1
  • Glycogen storage disease, type 1A
  • Glycogen storage disease, type Ib
  • Glycogen storage disease, type III
  • Glycogen storage disease, type V
  • GM1-gangliosidosis


  • Hearing loss, DFNB1 and DFNB9 nonsyndromic
  • Hearing loss, DFNB59 nonsyndromic
  • Hemochromatosis
  • Hemoglobin C
  • Hemoglobin D
  • Hemoglobin E
  • Hemoglobin O
  • Hereditary Fructose Intolerance
  • Herlitz junctional epidermolysis bullosa, LAMA3-related
  • Herlitz junctional epidermolysis bullosa, LAMB3-related
  • Herlitz junctional epidermolysis bullosa, LAMC2-related
  • HMG-CoA lyase deficiency
  • Homocystinuria, cblE type
  • Homocystinuria, classic
  • Hurler syndrome
  • Hypophosphatasia, autosomal recessive


  • Inclusion Body Myopathy 2


  • Juvenile retinoschisis, X-linked


  • Krabbe disease


  • Lipoamide dehydrogenase deficiency
  • Lipoprotein lipase deficiency, familial


  • Maple syrup urine disease
  • Medium-chain acyl-CoA dehydrogenase deficiency
  • Megalencephalic leukoencephalopathy with subcortical cysts
  • Metachromatic leukodystrophy
  • Methylmalonic acidemia
  • Mucolipidosis II
  • Mucolipidosis III
  • Mucolipidosis IV
  • Multiple carboxylase deficiency


  • Nephrotic syndrome, steroid-resistant
  • Neuronal ceroid lipofuscinosis, CLN3-related
  • Neuronal ceroid lipofuscinosis, CLN5-related
  • Neuronal ceroid lipofuscinosis, CLN8-related
  • Neuronal ceroid lipofuscinosis, PPT1-related
  • Neuronal ceroid lipofuscinosis, TPP1-related
  • Niemann-Pick disease
  • Nijmegen breakage syndrome


  • Pendred syndrome
  • Phenylketonuria
  • Polycystic kidney disease
  • Pompe disease
  • Prekallikrein deficiency
  • Primary hyperoxaluria, type 1
  • Primary hyperoxaluria, type 2
  • Primary hyperoxaluria, type 3
  • Propionic acidemia
  • Prothrombin deficiency


  • Rhizomelic chondrodysplasia punctate type 1
  • Rh-null syndrome
  • Rickets, pseudovitamin D-deficiency


  • Salla disease
  • Sandhoff disease
  • Short-chain acyl-CoA dehydrogenase deficiency
  • Sickle cell disease
  • Sick sinus syndrome
  • Smith-Lemli-Opitz Syndrome
  • Spherocytosis, hereditary


  • Tay-Sachs disease
  • Tay-Sachs pseudodeficiency
  • Thrombocytopenia, congenital amegakaryocytic
  • Tyrosine Hydroxylase Deficiency
  • Tyrosinemia


  • Usher syndrome, type 1F


  • Very long-chain acyl-CoA dehydrogenase deficiency
  • Von Willebrand disease type 2 Normandy
  • Von Willebrand disease type 3


  • Wilson disease


  • Zellweger syndrome spectrum, PEX1-related

The test is performed with each person doing a buccal (cheek) swab. This consists of you rubbing a soft swab on the inside of your cheek for 30 to 40 seconds and air drying it. The storage case helps preserve the sample until it reaches the lab for testing. The tests can be done in office or in the comfort of your own home.

Turnaround time: Approximately 4-6 weeks Price: $799.00 plus tax

For more information regarding our carrier status testing, contact our Canadian DNA testing facitlity today at 1866 863 5139