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Hermansky-Pudlak syndrome

Requires patient informed consent

Sample Reqs

A A

Turnaround

12 weeks

Special instructions

Contact lab



Sample type guide

A

Lavender Vacutainer, EDTA anticoagulant, 4ml/10ml(10ml EDTA tubes are used for specific PCR assays)

Test details

This test, which analyses the AP3B1, AP3D1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5 and HPS6 genes, is carried out using our Bleeding and Platelet Gene Panel.