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UNC13D inversion PCR (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 GTR000592979.2
IMMUNOLOGYINHERITED DISEASESYNDROMIC DISEASE ... View more
Last updated in GTR: 2023-03-13
View version history
Last annual review date for the lab: 2023-04-07 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Familial hemophagocytic lymphohistiocytosis 3
Genes (1): Help
UNC13D (17q25.1)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: PCR
Target population: Help
Not provided
Clinical validity: Help
The UNC13D inversion accounted for 7% of mutant alleles in …
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
How to Order: Help
Order URL
Test service: Help
Custom Balanced Chromosome Rearrangement Studies
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:
Test Order Code, Lab contact for this test, Contact policy, Test strategy
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 *
Targeted variant analysis
PCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical validity: Help
The UNC13D inversion accounted for 7% of mutant alleles in a North American population of 79 patients diagnosed with FHL3 (Qian et al. 2014).
View citations (1)
  • Qian Y, Johnson JA, Connor JA, Valencia CA, Barasa N, Schubert J, Husami A, Kissell D, Zhang G, Weirauch MT, Filipovich AH, Zhang K. The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3. Pediatr Blood Cancer. 2014;61(6):1034-40. doi:10.1002/pbc.24955. Epub 2014 Jan 28. PMID: 24470399.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Qian Y, Johnson JA, Connor JA, Valencia CA, Barasa N, Schubert J, Husami A, Kissell D, Zhang G, Weirauch MT, Filipovich AH, Zhang K. The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3. Pediatr Blood Cancer. 2014;61(6):1034-40. doi:10.1002/pbc.24955. Epub 2014 Jan 28. PMID: 24470399.

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
During validation, no false negatives or false positive results were observed. Analytical specificity and sensitivity are >99%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment
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
Not provided
Additional Information

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