Carrier 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
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
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.