Classic view of this page
TMA-Complete Genetic Panel 3.0
Clinical Genetic Test
Help
offered by
Machaon Diagnostics
View lab's test page
LinkOut
GTR Test Accession: Help GTR000613188.1
CAP
INHERITED DISEASEIMMUNOLOGYHEMATOLOGY ... View more
Last updated in GTR: 2024-03-07
View version history
Last annual review date for the lab: 2023-04-07 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Drug Response
Conditions (6): Help
Hemolytic uremic syndrome, atypical, susceptibility to, 1; CFHR5 deficiency; Cobalamin C disease; ...
Genes (24): Help
ADAMTS13 (9q34.2), C2 (6p21.33), C3 (19p13.3), C3AR1 (12p13.31), C4BPA (1q32.2), ...
Methods (1): Help
Molecular Genetics - Sequence analysis of select exons: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Based on published literature, aHUS sequencing has a clinical sensitivity …
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Machaon Diagnostics
View lab's website
View lab's test page
Specimen Source: Help
Test Order Code: Help
P1228
How to Order: Help
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: 6
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 24
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 select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Drug Response
Clinical validity: Help
Based on published literature, aHUS sequencing has a clinical sensitivity of 50-70% and the clinical sensitivity of C3G is up to 40%. In one study, cblC deficiency showed a clinical sensitivity of 96%. Pathogenic variants for inherited TTP and Denys-Drash syndrome are only reported within single genes, but the clinical … View more
View citations (1)
  • Shen YM. Clinical evaluation of thrombotic microangiopathy: identification of patients with suspected atypical hemolytic uremic syndrome. Thromb J. 2016;14(Suppl 1):19. doi:10.1186/s12959-016-0114-0. Epub 2016 Oct 04. PMID: 27766045.
Recommended fields not provided:
Clinical utility, 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
The exonic regions of 20 genes are sequenced and analyzed as part of this panel, including ADAMTS13, C2, C3, C3AR1, C4BPA, C4BPB, CD46 (MCP), CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, INF2, MMACHC, THBD, VTN, WT1 and SNPs in C5 (C5 p.Arg885) and TSEN2. The sequences have been … 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%.
Assay limitations: Help
This test targets the exons of the selected 20 genes, plus 5 bp of intronic DNA flanking the exon-intron boundary. In addition, non-coding regions with known pathogenic variants, SNPs detecting risk haplotypes of CFH-H3 and CD46/MCP, a TSEN2 splice site variant causing a novel syndrome accompanied by aHUS, and two … View more
View citations (1)
  • Genetic variants in C5 and poor response to eculizumab. Nishimura J, et al. N Engl J Med. 2014;370(7):632-9. doi:10.1056/NEJMoa1311084. PMID: 24521109.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
College of American Pathologists, CAP
Recommended fields not provided:
Test Confirmation, 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.