Hermansky-Pudlak Syndrome Panel
GTR Test Accession: Help GTR000596966.2
NYS CLEP
INHERITED DISEASECONNECTIVE TISSUEHEMATOLOGY ... View more
Last updated in GTR: 2022-10-25
Last annual review date for the lab: 2023-06-08 LinkOut
At a Glance
Prognostic; Mutation Confirmation; Risk Assessment; ...
Hermansky-Pudlak syndrome 2; Hermansky-Pudlak syndrome 1; Hermansky-Pudlak syndrome 10; ...
AP3B1 (5q14.1), AP3D1 (19p13.3), BLOC1S3 (19q13.32), BLOC1S6 (15q21.1), DTNBP1 (6p22.3), ...
Molecular Genetics - Deletion/duplication analysis: Comparative Genomic Hybridization; ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Versiti Diagnostic Laboratories
View lab's website
View lab's test page
Specimen Source: Help
  • Amniotic fluid
  • Isolated DNA
  • Peripheral (whole) blood
  • Amniocytes
  • Fetal blood
  • Bone marrow
  • White blood cell prep
  • Buccal swab
  • Cord blood
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Registered Nurse
  • Health Care Provider
  • Nurse Practitioner
  • Licensed Physician
Test Order Code: Help
CPT codes: Help
**AMA CPT codes notice
Lab contact: Help
Stefanie Dugan, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
SDugan@Versiti.org
(414) 937-6126
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 10
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 10
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Comparative Genomic Hybridization
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Prognostic; Mutation Confirmation; Risk Assessment; Diagnosis
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytical sensitivity of the NGS test is >99% for single nucleotide changes and insertions and deletions of less than 20 bp.
Assay limitations: Help
NGS analysis is not designed to detect large deletions or duplications (>20 bp), or variants that are outside the regions sequenced. Low level mosaicism will not be detected by this sequencing methodology.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
NYS CLEP Approval: Help
Number: 68479
Status: Approved
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.