The new carrier test aims to detect the most common mutations associated with autosomal recessive disorders in the Hutterite population. The test can be used in population-based carrier screening for 30 different syndromes. Carrier testing is vital for counseling individuals with a family history of severe diseases in order to assess reproductive risks.
Carrier Testing NGS panel
Published 22/09/2011Carrier Testing NGS panel
| Genes (full coding region): |
550 genes associated with severe, recessive pediatric onset diseases |
| Lab method: | NGS panel with CNV analysis |
| TAT: | 6-9 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
Indications for genetic testing:
1. Testing for asymptomatic individuals of an affected family member
2. Testing for individuals and couples who are considering family planning and pregnancy
3. Testing for individuals with particular ethnic background with high incidence of genetic disease
4. Genetic counseling
Genetic carrier testing allows determination of carrier status in family with identified mutation of an autosomal recessive or x-linked disorder.