Hermansky-Pudlak Syndrome (HPS) Panel
Use
The Hermansky-Pudlak Syndrome (HPS) Panel is intended for individuals who exhibit clinical features or have a suspected diagnosis of Hermansky-Pudlak syndrome. It is particularly relevant for patients who have absent platelet delta granules observable via electron microscopy, as such absence is a hallmark of the syndrome. The test helps confirm clinical diagnoses and aid in genetic counseling and patient management by identifying pathogenic variants in genes associated with HPS.
Special Instructions
Not provided.
Limitations
The Hermansky-Pudlak Syndrome Panel may not detect all pathogenic variants associated with HPS due to possible limitations in sequencing coverage or methodology. Variants in non-coding regions, large deletions or duplications, and low-level mosaicism might not be detected. Results should be interpreted in the context of clinical findings and family history.
New York Approved
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Exome Platform can utilize Blood, DNA, Buccal, Saliva, or Tissue specimens. Genome Platform is limited to Blood and DNA specimens.