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CFHR5 Deletion/Duplication by RT-PCR (2 Day STAT TAT)
Clinical Genetic Test
Help
offered by
Machaon Diagnostics
View lab's test page
LinkOut
GTR Test Accession: Help GTR000592977.2
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 (1): Help
CFHR5 deficiency
Genes (1): Help
CFHR5 (1q31.3)
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: RT-qPCR
Target population: Help
Not provided
Clinical validity: Help
This test detects a duplication in exons 2-3 of the …
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 Deletion/Duplication Testing
Result interpretation
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
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 *
Deletion/duplication analysis
RT-qPCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical validity: Help
This test detects a duplication in exons 2-3 of the CFHR5 gene, a copy number variation limited to patients of Greek-Cypriot descent associated with CFHR5 nephropathy.
View citations (1)
  • C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families. Deltas C, et al. Adv Exp Med Biol. 2013;735:189-96. doi:10.1007/978-1-4614-4118-2_12. PMID: 23402027.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families. Deltas C, et al. Adv Exp Med Biol. 2013;735:189-96. doi:10.1007/978-1-4614-4118-2_12. PMID: 23402027.

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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