LAMP Human Hemochromatosis KIT (3 mutations)
The LAMP Human Hemochromatosis 3mut KIT is an in vitro diagnostic test intended for the qualitative detection of the mutations C282Y (rs1800562), H63D (rs1799945) and S65C (rs1800730) on EDTA whole blood and extracted DNA. This assay is dedicated to professional use in diagnostic laboratories. The device is not for self-testing.
Regulatory status: CE-IVD
Format: 24 reactions
Target gene: HFE
Linked disease: Hereditary hemochromatosis
Mutation: C282Y, H63D, S65C
Method: LAMP + meting curve analysis
Sample: EDTA whole blood - no DNA extraction required - or extracted DNA
Compatible instruments: LightCycler 480 I&II / Cobas z 480 (Roche); CFX96 / CFX Opus 96 (Bio-Rad); QuantStudio 1/3/5 & 6/7 Flex (Applied Biosystems); MIC qPCR (Bio Molecular Systems); LC-Genie III & Genie HT (Optigene)
Software / result interpretation: Automated genotype calling via GeneFox software; mandatory visual confirmation of the melting curve
Turn around time: < 1h
General information
Advantages
Linked products
The LC-HFE3mut-LP kit uses loop-mediated isothermal amplification, a robust amplification method using four to six primers per target, that can be directly used on EDTA whole blood samples, without DNA purification and on extracted DNA samples from whole blood samples.
The genotyping is performed by melting curve analysis after amplification, using a specific probe and quencher for each target SNP.
Test principle
Hereditary Hemochromatosis
Hereditary hemochromatosis (HH) is a recessive genetic disorder characterized by an increased intestinal iron absorption resulting in systemic iron overload, especially in the liver, pancreas, joints and testes. If untreated, HH can cause liver fibrosis, cirrhosis and hepatocellular carcinoma. HH is commonly caused by certain variants in the HFE gene.
C282Y
C282Y (rs1800562; c.845G>A, p. Cys282Tyr) is considered the most relevant mutation responsible for HH.
Carrier frequency: 5-10% in Caucasian populations; incidence of (A;A) homozygotes around 1/200.
H63D
H63D (rs1799945; c.187C>G, p. His63Asp), is implicated in mild iron overload when inherited in the compound homozygous state for H63D or heterozygous state with C282Y/S65C.
Carrier frequency: 3.3%-15.2% in the general population across the world.
S65C
S65C (rs1800730; c.193A>T, p. Ser65Cys) ), is implicated in mild iron overload when inherited in the compound heterozygous state with either C282Y or H63D.
Carrier frequency: 2-3% in Caucasian populations.
Background information
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