Disorders

Hermansky-Pudlak Syndrome 8

Synonym(s): HPS 8, HPS8

Gene	Locus	Protein
BLOC1S3	19q13.32

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.