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CFH region Deletion/Duplication by MLPA (2 Day STAT TAT)
Clinical Genetic Test
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offered by
Machaon Diagnostics
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GTR Test Accession: Help GTR000592969.2
INHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITY
Last updated in GTR: 2023-03-13
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Last annual review date for the lab: 2023-04-07 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Genes (5): Help
CFH (1q31.3); CFHR1 (1q31.3); CFHR2 (1q31.3); CFHR3 (1q31.3); CFHR5 (1q31.3)
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Target population: Help
Not provided
Clinical validity: Help
It is estimated that copy number variations in the CFH …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Machaon Diagnostics
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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 (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: 5
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
Multiplex Ligation-dependent Probe Amplification (MLPA)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical validity: Help
It is estimated that copy number variations in the CFH region due to nonallelic homologous recombination are found in approximately 4.5% of aHUS patients (Challis et al. 2016). This assay can detect copy number variations in the CFH region that are difficult to detect by NGS.
View citations (1)
  • Challis RC, Araujo GS, Wong EK, Anderson HE, Awan A, Dorman AM, Waldron M, Wilson V, Brocklebank V, Strain L, Morgan BP, Harris CL, Marchbank KJ, Goodship TH, Kavanagh D. A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H-Related 3 Gene in Atypical Hemolytic Uremic Syndrome. J Am Soc Nephrol. 2016;27(6):1617-24. doi:10.1681/ASN.2015010100. Epub 2015 Oct 21. PMID: 26490391.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Challis RC, Araujo GS, Wong EK, Anderson HE, Awan A, Dorman AM, Waldron M, Wilson V, Brocklebank V, Strain L, Morgan BP, Harris CL, Marchbank KJ, Goodship TH, Kavanagh D. A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H-Related 3 Gene in Atypical Hemolytic Uremic Syndrome. J Am Soc Nephrol. 2016;27(6):1617-24. doi:10.1681/ASN.2015010100. Epub 2015 Oct 21. PMID: 26490391.

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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