Carrier Testing NGS panel

Genes
(full
coding region):
550 genes associated with severe, recessive pediatric onset diseases

Price / TAT: 952 EUR / 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

Targeted mutation analysis

Genes: HBB, CFTR, HEXA, HFE, F2, F5, ACADM, GALT, GJB2, MTHFR, SERPINA1, MEFV, FAH, ATP7B, SLC26A4, TCN2, DHCR7, PAH, CHRNE, FSHR

No of
detectable
markers:
96

Lab method: DNA microarray (APEX – Arrayed Primer EXtension)

Price / TAT: 359 EUR / 2-4 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

4 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. Genetic counseling

Genetic carrier testing allows determination of carrier status in family with identified mutation of an autosomal recessive or x-linked disorder.