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Thrombocytopenia Absent Radius Syndrome: gene deletion/duplication
Clinical Genetic Test
Help
offered by
CEN4GEN Institute for Genomics and Molecular Diagnostics
GTR Test Accession: Help GTR000560089.2
INHERITED DISEASEDYSMORPHOLOGYHEMATOLOGY ... View more
Last updated in GTR: 2024-10-03
View version history
Last annual review date for the lab: 2023-12-05 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment
Conditions (1): Help
Radial aplasia-thrombocytopenia syndrome
Genes (1): Help
RBM8A (1q21.1)
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
CEN4GEN Institute for Genomics and Molecular Diagnostics
View lab's website
Specimen Source: Help
  • Isolated DNA
  • Peripheral (whole) blood
  • Saliva
Who can order: Help
  • Health Care Provider
Test Order Code: Help
N00048
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
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, 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
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytical validity for this analysis is 99%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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