4875

Hermansky-Pudlak Syndrome Panel

Order Code: 4875 Get Requisition Form
Test Information Icon
Test Information
This panel is designed for the detection of germline variants in 10 genes known to cause Hermansky-Pudlak syndrome. It can be ordered as: Next Generation Sequencing (NGS) only; NGS with reflex to Array Comparative Genomic Hybridization (aCGH); NGS with concurrent aCGH (both testing methodologies performed simultaneously); aCGH only
Also Known As Icon
Also Known As
  • aCGH
  • AP3B1
  • AP3D1
  • BLOC1S3
  • BLOC1S6
  • CNV
  • del
  • del/dup
  • deletion
  • DTNBP1
  • duplication
  • HPS1
  • HPS3
  • HPS4
  • HPS5
  • HPS6
Test Type Icon
Test Type
Genetic Test
Sample Notes Icon
Sample Notes
EDTA Whole Blood, EDTA Bone Marrow, DNA, Buccal Swabs, Amniotic Fluid, Cultured Amniocytes, Direct or Cultured CVS, ACDA Whole Blood, ACDB Whole Blood, Na Heparin Whole Blood
Requested Volume Icon
Requested Volume
3-5 mL EDTA Whole Blood or Bone Marrow (lavender top), 3-4 Buccal Swabs, >=1 ug DNA at >=50 ng/uL, 7-15 mL Amniotic Fluid, 5-10 mg CVS, 2-T25 flasks cultured amniocytes or CVS (2x10^6 minimum)
Minimum / Pediatric Volume Icon
Minimum / Pediatric Volume
Fetal: Call Laboratory; Parental/Patient: 2 mL EDTA whole blood
Shipping Information Icon
Shipping Information
Room Temperature or Refrigerated
CPT Codes Icon
CPT Codes
  • 81479
Method Icon
Method
NGS: Capture hybridization and Next Generation Sequencing with supplementary PCR and bi-directional Sanger sequencing for quality and coverage; aCGH: CNV analysis of specific genes by high density gene-focused array Comparative Genomic Hybridization
Turnaround Time Icon
Turnaround Time
21 days
New York State Approval Icon
New York State Approval
Approved
DEX Z-Code™ Icon
DEX Z-Code™
No
 
Our Experts
Research investigators, postdoctoral fellows and laboratory staff at Versiti Blood Research Institute and Diagnostic Laboratories.
 
Hematology Genetics Testing
The Hematology Genetic Testing Lab provides specialized hematology genetics custom testing panels, single gene testing and more.
 
Requisitions
Access requisitions for Versiti Diagnostic Laboratories.