Whole Exome Sequencing

Lab method: Next generation sequencing
Price / TAT: Solo sample 1567 EUR / 15 weeks
Trio sample 3100 EUR / 15 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. Confirmation of clinical diagnosis
2. Diagnosing of genetically and phenotypically heterogeneous group of disorders
3. Testing patients with atypical phenotype
4. Diagnosis of patients with genetic disorders for which diagnostic panels are not available
5. Genetic counseling