PlateletGenex Functional Defect Panel (31 genes) (2 Day STAT TAT)
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000592981.3
Last updated in GTR: 2023-06-29
Last annual review date for the lab: 2023-04-07 Past due LinkOut
At a Glance
SCOTT SYNDROME; Arthrogryposis, renal dysfunction, and cholestasis 1; Arthrogryposis, renal dysfunction, and cholestasis 2; ...
ANO6 (12q12), AP3B1 (5q14.1), BLOC1S3 (19q13.32), BLOC1S6 (15q21.1), DTNBP1 (6p22.3), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
We acquired six positive control samples by searching the cell …
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Specimen Source: Help
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
How to Order: Help
Please visit lab website for details. Inquire about functional confirmation testing.
Order URL
Test service: Help
Custom Sequence Analysis
Result interpretation
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
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: 26
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 31
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Clinical validity: Help
We acquired six positive control samples by searching the cell line biorepository at the Coriell Institute for Medical Research. These six samples were collected from patients diagnosed with either Hermansky-Pudlak, Chediak-Higashi, or Bernard-Soulier syndromes. In all six cases, we identified either pathogenic or likely pathogenic variants, suggesting the clinical specificity … View more
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Hereditary thrombocytopenias: a growing list of disorders. Noris P, et al. Hematology Am Soc Hematol Educ Program. 2017;2017(1):385-399. doi:10.1182/asheducation-2017.1.385. PMID: 29222283.

Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytic specificity and sensitivity of the NGS panel are greater than 99%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

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
Additional Information

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