Each of us, even if we are completely healthy, can be a hidden carrier of a mutation in at least one of our genes. If both partners are carriers of a mutation in the same gene, they can both pass this mutation on to their child. A mutation acquired from both parents will manifest as a severe autosomal recessive (AR) disease. Some mutations with a recessive type of inheritance are transmitted only by women (genes are located on the X chromosome, XR inheritance) and the disease will only fully manifest itself in their sons if they pass the mutation on to them.

CarrierTest investigates

Hidden carrier of more than 2,000 common mutations causing over 80 genetic diseases and conditions that can affect the offspring of healthy carriers.

Who is CarrierTest suitable for?

For all partners before planning for a child, especially if they are:

• infertility

• repeated miscarriages or IVF failures

• positive history of hereditary disease in one of the partners or in the family

• consanguineous marriages

• within IVF we test anonymous gamete donors to select the most genetically suitable (compatible) donor for the recipient.

The CarrierTest result report has these parts:

• transmission of gene mutations associated with serious diseases of a child

• mutations of a panel of genes increasing the tendency to blood clotting (thrombophilic profile)

• response to hormonal treatment of infertility

  (polymorphism of the FSH receptor gene)

Tested genetic diseases:

CarrierTest identifies the risk of the most common genetically determined diseases, such as:

• cystic fibrosis

• neuromuscular diseases (e.g. spinal muscular atrophy,

  Duchenne muscular dystrophy)

• inborn errors of metabolism (e.g. phenylketonuria)

• visual and hearing disorders

• diseases of the musculoskeletal system and skin

• disorders of sexual development and fertility

• disposition to blood clotting (thrombophilic profile)

• response to hormonal therapy

Results of CarrierTest

CarrierTest reliably excludes or confirms the presence of key mutations. We call key mutations those that are a proven cause of hereditary diseases and for which the test is prepared. However, it does not exclude the transmission of all possible deviations in the genes under investigation. A negative result therefore means that the risk of transmission is significantly reduced. For each gene, a “Residual risk of transmission” can be determined, from which the resulting risk of affecting the child is derived.

Autosomal recessive (AR) inheritance:
both parents are carriers

If both parents are AR carriers, there is a 1 in 4, or 25%, chance of having an affected child.

X-linked recessive inheritance:
mother carrier

A mother who is a carrier of an X-linked recessive disorder has a 25% risk of having a son affected by the disease and a 25% risk of having a daughter who is a carrier.