Carrier status testing

Are you a carrier for a disease which could be passed to you children? Our carrier status test will test for 76 autosomal recessive conditions.

Autosomal Diseases – The disease is caused by a mutation in a single gene

Autosomal Recessive diseases 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%.

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:

3- Methylcrotonyl-CoA carboxylase deficiency

A
• Acrodermatitis enteropathica
• Alpha-1 antitrypsin deficiency
• Amyotrophic lateral sclerosis
• Argininosuccinate lyase deficiency
• Autoimmune polyglandular syndrome, type I

B
• Bartter syndrome type 4A
• Beta-ketothiolase deficiency
• Beta-thalassemia
• Biotinidase deficiency
• Bloom syndrome

C
• Canavan disease
• Carnitine deficiency, primary systemic
• Cerebrotendinous xanthomatosis
• Citrullinemia type I
• Corticosterone methyl oxidase deficiency
• Crigler-Najjar syndrome
• Cystic fibrosis

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

E
• Ehlers-Danlos syndrome, dermatosparaxis
• Ehlers-Danlos syndrome, hypermobility
• Ehlers-Danlos syndrome, kyphoscoliotic
• Ethylmalonic aciduria

F
• Factor XI deficiency
• Familial dysautonomia
• Familial Mediterranean fever
• Fanconi anemia

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

H
• Hearing loss, DFNB1 and DFNB9 nonsyndromic
• Hearing loss, DFNB59 nonsyndromic
• Hemochromatosis
• Hemoglobin C
• Hemoglobin E
• HMG-CoA lyase deficiency
• Homocystinuria, cblE type
• Homocystinuria, classic
• Hurler syndrome

K
• Krabbe disease

L
• Lipoprotein lipase deficiency, familial

M
• Maple syrup urine disease
• Medium-chain acyl-CoA dehydrogenase deficiency
• Methylmalonic acidemia
• MTHFR deficiency
• Mucolipidosis II
• Mucolipidosis III
• Mucolipidosis IV
• Multiple carboxylase deficiency

N
• Nephrotic syndrome, steroid-resistant
• Niemann-Pick disease

P
• Phenylketonuria
• Polycystic kidney disease
• Pompe disease
• Prekallikrein deficiency
• Propionic acidemia
• Prothrombin deficiency

R
• Rh-null syndrome
• Rickets, pseudovitamin D-deficiency

S
• Sandhoff disease
• Short-chain acyl-CoA dehydrogenase deficiency
• Sick sinus syndrome
• Sickle cell disease
• Spherocytosis, hereditary

T
• Tay-Sachs disease
• Tay-Sachs pseudodeficiency
• Thrombocytopenia, congenital amegakaryocytic
• Tyrosinemia

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