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PlateletGenex Functional Defect Panel (31 genes) (2 Day STAT TAT)
Clinical Genetic Test
Help
offered by
Machaon Diagnostics
View lab's test page
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GTR Test Accession: Help GTR000592981.3
CAP
INHERITED DISEASEHEMATOLOGYSYNDROMIC DISEASE ... View more
Last updated in GTR: 2023-06-29
View version history
Last annual review date for the lab: 2024-04-04 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (26): Help
SCOTT SYNDROME; Arthrogryposis, renal dysfunction, and cholestasis 1; Arthrogryposis, renal dysfunction, and cholestasis 2 more...
Genes (31): Help
ANO6 (12q12); AP3B1 (5q14.1); BLOC1S3 (19q13.32); BLOC1S6 (15q21.1); DTNBP1 (6p22.3) more...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
We acquired six positive control samples by searching the cell …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Machaon Diagnostics
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
P1204
View other test codes
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:
Lab contact for this test, Contact policy, Test strategy
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
Methodology
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
Diagnosis
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:
Target population, What is the protocol for interpreting a variation as a VUS?, 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 analytic specificity and sensitivity of the NGS panel are greater than 99%.
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, 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
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.