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Carrier Screening

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The MGZ - Medical Genetics Center offers a test to analyze over 600 genes in parallel, variants in which are the cause of clearly defined, severe recessive diseases manifesting in childhood. The genes included for analysis have been chosen and evaluated by experts inter alia according to the recommendations of the American College of Medical Genetics and Genomics (ACMG). Criteria were e.g., high penetrance, sufficient published data regarding clinical sensitivity / specificity, functional studies, pathogenic mutations found in more than one family, etc.1.


This screening is suitable for both carrier testing of couples planning to have children and for the diagnostic testing of children suspected of having a recessive childhood illness. Screening for recessive diseases is recommended in cases where other specific diagnoses have been ruled out based on the clinical phenotype, a patient’s siblings are affected by recessive diseases, or the parents are consanguineous.

Tests Available

Severe Recessive Childhood Diseases Gene Panel

Autosomal recessive diseases manifest regardless of gender and only when both parental gene copies are abnormal. X-linked recessive diseases manifest in males when a genetic abnormality in the X chromosome cannot be compensated for by a gene copy on a second X chromosome (as in females).

Although the incidence of each individual recessive disease is low ("Orphan Diseases") the overall large number of individual diseases (estimated to be over 1,000) means they make up a significant portion of inherited childhood diseases. There are diagnostic consequences for many diseases, making quick and early diagnosis highly important. The analysis of the Severe Recessive Childhood Diseases Gene Panel may be a reasonable diagnostic measure when some specific diagnoses have been ruled out based on the clinical phenotype or when family history (affected siblings, consanguinity) suggests a recessive disease.

It is assumed that each person in the general population is a heterozygous carrier of 2 to 3 recessive mutations known to cause severe childhood diseases when present in a homozygous our compound heterozygous state. For at-risk patients (consanguineous couples, individuals with unidentified recessive genetic diseases in the family), preconception carrier screening for severe recessive diseases can, in combination with genetic counseling, make valuable contributions to family planning.

Click here to view our clinician information brochure on Carrier Screening


Test Name Test Code
Carrier Screening Couple - (Offline Ordering Only) 164.03

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  • Next-generation sequencing (NGS)

Sample Requirements

Accepted Sample Types

  • 2-4 mL EDTA blood
  • 3-10 µg DNA

View all sample requirements

Turnaround Time

  • 3-6 weeks

Test Performance/Technical Information

The MGZ's Carrier Screening gene panel is of the quality Type B, according to the rating scheme recommended by the current EuroGentest guidelines for diagnostic next-generation sequencing.

The analysis may be used to confirm a diagnosis, but does not exclude the possibility of a genetic disease.


For technical reasons, the detection of larger deletions and/or duplications, structural rearrangements, repeat expansions, pathogenic variants in homopolymer regions, in paralogs/pseudogenes and in untested regulatory regions is not possible.

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1 Bell et al., Sci Transl Med. 2011