For healthy couples, it may make sense to carry out heterozygote screening for carriers of recessive diseases before pregnancy (carrier screening). An increased risk of autosomal recessive diseases in the offspring may exist in the following cases:

• consanguineous (blood-related) couples,
• couples of the same ethnic origin,
• couples in whose families a recessive genetic disease is already known.

Based on the so-called "Kingsmore Panel", 437 genes, whose variants are known to be the cause of 448 recessive diseases, are examined on request. These can already manifest themselves with severe symptoms as early as childhood. Cystic fibrosis (CF) is included in this testing. In addition, targeted testing is performed with regard to carrier status for autosomal recessive spinal muscular atrophy (SMN1-SMA).

The MGZ - Medical Genetics Center offers interested couples carrier screening, which includes the carrier status for cystic fibrosis and spinal muscular atrophy, as an individual health service. A cost estimate is available by sending an email to inquiry@mgz-muenchen.com. Further information on the heterozygote screening of couples can be found in our clinician information brochure titled “Carrier Screening”.

You may also request this information by post, by sending an email to inquiry@mgz-muenchen.com.