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CFH Region Deletion/Duplication Analysis by MLPA


Due to the homologous nature of these tandem genes, this complement-regulatory region is more susceptible to deletions and duplications. For example, rare deletions in this region that result in a fusion of the CFH gene to CFHR1 can cause atypical hemolytic uremic syndrome (aHUS). Other more common deletions of either CFHR3-1 or CFHR1-4 can be inherited such that many people are homozygous null for CFHR1; these people are more likely than others to develop anti-CFH antibodies, which can cause aHUS.

STAT: < 48 hours (M-F)


Draw Tube: Purple Top

Sample Type: EDTA Whole Blood


Specimen Requirements

Sample Type Volume Required Minimum Volume Stability
PREFERRED EDTA Whole Blood 3mL 1mL Room Temp.: 1 month
Refrigerated: 1 month
Frozen (-20C): 2 weeks
Frozen (-80C): 6 months
ALTERNATIVE Cheek swab 2 swab - Room Temp.: 1 month
Refrigerated: 1 month
REJECTION CRITERIA Sample contamination; sample compromised
SPECIAL INSTRUCTIONS Post bone marrow transplant (post-BMT) patients require a cheek swab sample to test the transplant recipient; post-BMT patients require a venous blood sample to test the bone marrow donor.

General Information

STAT TAT < 48 hours (M-F)
STAT TAT Performance > 90% of results released in 48 hours
ROUTINE TAT < 5 days (M-F)
ALTERNATIVE NAMES CFH fusion, CFH/CFHR copy number variation (CNV) analysis, CFH, CFHR1, CFHR2, CFHR3, CFHR5 deletion/duplication analysis, complement-mediated HUS, cm-HUS, TMA
DESCRIPTION This test looks for deletions or duplications within the CFH, CFHR1, CFHR2, CFHR3, and CFHR5 genes by multiplex ligation-dependent probe amplification (MLPA), a method with much higher resolution than next-generation sequencing or microarrays.
LIMITATIONS This test detects deletions and duplications but not balanced structural variants (i.e., inversions, insertions or translocations). This test requires two consecutive probes indicating a deletion or duplication to make a CNV call.
NORMAL RANGE Interpretation: Negative

Venables JP, Strain L, Routledge D, et al. Atypical haemolytic uraemic syndrome associated with a hybrid complement gene. PLoS Med. 2006 Oct;3(10):e431.

Zipfel PF, Edey M, Heinen S, et al. Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. PLoS Genet. 2007 Mar 16;3(3):e41.

Valoti E, Alberti M, Tortajada A, et al. A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation. J Am Soc Nephrol. 2015 Jan;26(1):209-19.

SAMPLE REPORT Upon request

Test Codes

CPT CODE 81479
LOINC CODE 51779-7