Hermansky-Pudlak Syndrome NGS panel

Genes
(full
coding region):
AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6

List of diseases covered by the panel


Price / TAT: NGS: 1030 EUR / 6-9 weeks

NGS with CNV: 1400 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