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Hermansky-Pudlak Syndrome Panel
Clinical Genetic Test
Help
offered by
Versiti Diagnostic Laboratories
View lab's test page
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GTR Test Accession: Help GTR000596966.2
NYS CLEP
INHERITED DISEASECONNECTIVE TISSUEHEMATOLOGY ... View more
Last updated in GTR: 2022-10-25
View version history
Last annual review date for the lab: 2023-06-08 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Prognostic; ...
Conditions (10): Help
Hermansky-Pudlak syndrome 2; Hermansky-Pudlak syndrome 1; Hermansky-Pudlak syndrome 10 more...
Genes (10): Help
AP3B1 (5q14.1); AP3D1 (19p13.3); BLOC1S3 (19q13.32); BLOC1S6 (15q21.1); DTNBP1 (6p22.3) more...
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Comparative Genomic Hybridization; ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Versiti Diagnostic Laboratories
View lab's website
View lab's test page
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Bone marrow
  • Buccal swab
  • Cord blood
  • Fetal blood
  • Isolated DNA
  • Peripheral (whole) blood
  • White blood cell prep
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Registered Nurse
Test Order Code: Help
4875
View other test codes
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

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
Order URL
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
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:
Test strategy
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
Diagnosis; Mutation Confirmation; Prognostic; Risk Assessment
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
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:
Test Confirmation, Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
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.