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Complement C3 glomerulopathy (C3 glomerulonephritis/Atypical Hemolytic Uremic Syndrome)
Clinical Genetic Test
Help
offered by
IUMS Hospital Medical Genetics Lab
GTR Test Accession: Help GTR000613431.1
INHERITED DISEASEIMMUNOLOGYURINARY SYSTEM DISEASE ... View more
Registered in GTR: 2024-10-30
View version history
Last annual review date for the lab: 2024-10-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (2): Help
C3 glomerulonephritis; Atypical hemolytic-uremic syndrome
Genes (1): Help
CFH (1q31.3)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: PCR
Target population: Help
Persian
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
IUMS Hospital Medical Genetics Lab
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, How to Order, Specimen source, Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 2
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 *
Sequence analysis of the entire coding region
PCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Persian
View citations (1)
  • https://www.ijkd.org/index.php/ijkd/article/view/3162/1040
Recommended fields not provided:
Clinical validity, Clinical utility, 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
Bi-directional PCR sequencing sensitivity, specificity, accuracy, and precision generally exceeds 99% for detecting single nucleotide variants (SNVs) and small insertions or deletions (indels) in the target region, and due to precise base-pair matching and the high fidelity of polymerases used.
View citations (1)
  • Bustin & Nolan, 2004; Clinical and Laboratory Standards Institute (CLSI), MM13-A, 2014. Cappelli et al., 2016; US FDA, Device Classification Under Section 513(f)(2)(B), for PCR-based diagnostic devices
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, 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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