MCP CD46 (Renal Genetic Test)
| Order Code: | MCPCD46 |
| Epic Lab Code: | LAB7299 |
| Order Form: | A-1a Miscellaneous Request or Epic Req |
Commercial Mail-out Laboratory
6240 RCP
356-3527
6240 RCP
356-3527
Specimen:
Whole Blood
Collection Medium:
![]() | and | ![]() |
| Pink top tube | Pink top tube |
Alternate
Collection Media:
Lavender top tube 4 mL (EDTA)
Minimum:
Preferred Minimum: 8 mL whole blood
Absolute Minimum: 4 mL whole blood
Analytic Time:
3 months
Reference Range:
None detected
Interpretive Data:
MCP (MCP)
The MCP gene contains 14 exons that encode the 392 amino acid protein
Membrane Cofactor Protein (MCP; CD46). MCP is a locally synthesized
membrane bound complement regulator with co-factor activity for Factor
I (CFI)-mediated cleavage of C3b and C4b. Over 30 mutations in the MCP
gene have been identified in persons with aHUS. Mutation screening of
MCP is indicated in persons with aHUS.
Atypical Hemolytic Uremic Syndrome
The clinical manifestations of hemolytic-uremic syndrome (HUS) include
hemolytic anemia, thrombocytopenia and acute renal failure. Most cases
are associated with epidemics of diarrhea caused by
verocytotoxin-producing bacteria.
Atypical hemolytic uremic syndrome (aHUS) is a rarer disease. It is
not associated with Stx-HUS infection and neither does it present with
watery, bloody diarrhea (Warwicker et al., 1998). It can be either
sporadic or familial, and has an extremely unfavorable prognosis, with
about 50% of persons progressing to ESRD and 25% dying during the acute
illness; transplantation in many survivors is unsuccessful (Schieppati
et al., 1992; Taylor et al., 2004). Genetic studies have shown that
approximately 50% of cases of aHUS are caused by mutations in MCP, CFH
and IF (Caprioli et al., 2006). Identifying the genetic cause of aHUS
is extremely important as it can help to direct clinical treatment
decisions.
Sensitivity is greater than 99%.
Comments:
Please print, complete and submit the Kidney Testing Requisition from the
Molecular Otolaryngology & Renal Research Laboratory, to Specimen
Control/Mailouts with the specimen and the Epic Requisition.
Methodology:
Oligonucleotide primers have been designed to amplify each exon of
MCP. Because MCP contains many non-disease causing polymorphisms, it
is sequenced directly using overlapping primer sets.
CPT Code:
83891, 83894, 83898 (x13), 83904 (x13)
