Autosomal Dominant Thrombocytopenia Panel
GTR Test Accession: Help GTR000570023.3
NYS CLEP
CAP
INHERITED DISEASEHEMATOLOGYSYNDROMIC DISEASE ... View more
Last updated in GTR: 2022-10-25
Last annual review date for the lab: 2023-06-08 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Risk Assessment
ACTB-associated syndromic thrombocytopenia; Bernard Soulier syndrome; Bernard-Soulier syndrome, type A2, autosomal dominant more...
ACTB (7p22.1); ACTN1 (14q24.1); ANKRD26 (10p12.1); CDC42 (1p36.12); CYCS (7p15.3) more...
Molecular Genetics - Deletion/duplication analysis: Comparative Genomic Hybridization; ...
Not provided
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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
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 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:
Conditions Help
Total conditions: 22
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 22
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
Mutation scanning 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
Recommended fields not provided:
Technical Information
Test Comments: Help
A DEX Z-Code has been assigned for this panel, please visit app.dexzcodes.com
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytical sensitivity of 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:
Regulatory Approval
FDA Review: Help
Not provided
NYS CLEP Approval: Help
Number: 68479
Status: Approved
Additional Information

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