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Platelet Function Disorder Panel
Clinical Genetic Test
Help
offered by
Versiti Diagnostic Laboratories
View lab's test page
LinkOut
GTR Test Accession: Help GTR000570022.3
NYS CLEP
CAP
INHERITED DISEASEHEMATOLOGYSYNDROMIC DISEASE ... View more
Last updated in GTR: 2024-09-09
View version history
Last annual review date for the lab: 2024-11-15 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment
Conditions (40): Help
SCOTT SYNDROME; ARPC1B-related thrombocytopenia; Arthrogryposis, renal dysfunction, and cholestasis 1 more...
Genes (41): Help
ANO6 (12q12); AP3B1 (5q14.1); AP3D1 (19p13.3); ARPC1B (7q22.1); BLOC1S3 (19q13.32) more...
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Comparative Genomic Hybridization; ...
Target population: Help
This panel is designed for the detection of germline variants …
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
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
4835
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
[email protected]
(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 service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Result interpretation
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:
Test strategy
Conditions Help
Total conditions: 40
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 41
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; Risk Assessment
Target population: Help
This panel is designed for the detection of germline variants in 41 genes known to cause inherited platelet dysfunction.
Recommended fields not provided:
Clinical validity, Clinical utility, 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
Test Comments: Help
This panel has been assigned a DEX Z-Code, please visit app.dexzcodes.com
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytical sensitivity if this test is >99% for single nucleotide changes and insertions and deletions of less than 20bp.
Assay limitations: Help
This assay does not detect large deletions or duplications (>20bp) or deletions, duplications or variants that are outside the regions sequenced.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
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.