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PlateletGenex Thrombocytopenia Panel (26 genes) (2 Day STAT TAT)
Clinical Genetic Test
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offered by
Machaon Diagnostics
View lab's test page
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GTR Test Accession: Help GTR000592963.3
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 (22): Help
Macrothrombocytopenia, isolated, 1, autosomal dominant; Congenital amegakaryocytic thrombocytopenia; Familial hemophagocytic lymphohistiocytosis 5 more...
Genes (26): Help
ACTN1 (14q24.1); ADAMTS13 (9q34.2); ANKRD26 (10p12.1); CD36 (7q21.11); CYCS (7p15.3) 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
Identification of causal mutations have enhanced the diagnosis of inherited …
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
P1225
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 but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
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: 22
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 26
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
Identification of causal mutations have enhanced the diagnosis of inherited thrombocytopenia, however, the clinical sensitivity is still thought to be around 50 %. We sequenced one positive control sample from a patient diagnosed with thrombocytopenia. In this case, we identified a pathogenic variant along with other SNVs, suggesting the clinical … 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
Test Comments: Help
Inherited thrombocytopenia is a group of heterogenous blood disorders characterized by low platelet counts; typically less than 150,000/uL. Symptoms include excessive bruising (purpura), petechiae, prolonged bleeding from cuts, spontaneous nose bleeds, and heavy menstrual flows in women. Inherited thrombocytopenia may follow either autosomal dominant, autosomal recessive, or X-linked inheritance. Severe … View more
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%. 2 rare and 192 common variants in the genes tested were found in the sample NA12878 with zero false negatives and zero false positives.
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.