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C3 Glomerularopathy Genetic Panel (6 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 GTR000592964.2
CAP
IMMUNOLOGYINHERITED DISEASEHEMATOLOGY ... View more
Last updated in GTR: 2023-03-13
View version history
Last annual review date for the lab: 2024-04-04 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (3): Help
CFHR5 deficiency; Afibrinogenemia; Factor H deficiency
Genes (6): Help
C3 (19p13.3); CD46 (1q32.2); CFB (6p21.33); CFH (1q31.3); CFHR5 (1q31.3) more...
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: qPCR; ...
Target population: Help
Not provided
Clinical validity: Help
This panel can be used for the diagnosis of C3 …
Clinical utility: Help
Not provided
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
P1214
How to Order: Help
Order URL
Test service: Help
Custom Deletion/Duplication Testing
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: 3
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 6
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
qPCR
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
This panel can be used for the diagnosis of C3 Glomerulopathy (C3G), a form of complement-mediated kidney disease that is characterized by uncontrolled activation of the complement cascade leading to C3 deposition within the glomerulus.
View citations (1)
  • Goodship TH, Cook HT, Fakhouri F, Fervenza FC, Frémeaux-Bacchi V, Kavanagh D, Nester CM, Noris M, Pickering MC, Rodríguez de Córdoba S, Roumenina LT, Sethi S, Smith RJ, . Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney Int. 2017;91(3):539-551. doi:10.1016/j.kint.2016.10.005. Epub 2016 Dec 16. PMID: 27989322.
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
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
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.