MGZ –Medical Genetics Center is now offering an expanded carrier screening gene panel, essentially based on next-generation sequencing (NGS) technology, which includes standard sequencing of over 600 genes, variants in which are known to be the cause of clearly defined serious diseases. The analysis includes testing for cystic fibrosis (CFTR gene) and additional analyses for spinal muscular atrophy (SMA), Fragile X syndrome (women only) and thalassemia (especially couples from Mediterranean countries, the Middle East, the Indian subcontinent, Southeast Asia and Africa) are also available.

Why consider carrier screening?

For healthy couples, it may make sense to have carrier screening to find out the individual risk for carriers of recessive diseases before or in early pregnancy to make informed family planning decisions. 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

For couples who are both carriers of the same recessive disease, there is a 25% risk of having an affected child.

There are diagnostic consequences for many diseases, making quick and early diagnosis highly important.

Carrier screening is also recommended for family planning when there are no known genetic diseases in the family.

Approximately 1-2 in 100 couples are couples who are at risk of having a child with a recessive genetic condition.¹

Carrier Screening at MGZ - Comprehensive, High Quality Testing

• Comprehensive screening panel of over 600 genes*
• Carrier status for multiple autosomal and X-linked recessive disorders
• Includes analysis for cystic fibrosis (CF) via NGS
• Additional testing options:
  • Spinal muscular atrophy testing via MLPA analysis (SMN1 gene)
  • Fragile X Syndrome (FMR1)
  • Thalassemia
• Includes genes selected and evaluated by experts according to the American College of Medical Genetics and Genomics (ACMG)
• Only genetic variants are reported which are assessed as pathogenic (causative of disease) on the basis of international recommendations for variant classification.
• Type B Analysis (EuroGentest) – Detection precision >99.9%; Sequence depth of 30 fold at 98% coverage.
• Turnaround time of 3-6 weeks

*Please email inquiry@mgz-muenchen.com to request a list of the genes included.

Price Inquiries

Interested couples and/or clinicians may request a cost estimate by sending an email to inquiry@mgz-muenchen.com or by using our convenient contact form found under Cost & Billing Information at www.mgz-muenchen.com.

Reference:

¹ Responsible implementation of expanded carrier screening (European Journal of Human Genetics, 2016, 24, e1–e12)