Familial Hypercholesterolemia
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Rapid & Reliable Genetic Assessment
Genetic Assessment of Patients with Suspected Familial Hypercholesterolemia (FH)
- Early diagnosis of specific mutations reducing morbidity and mortality from premature CVD ensuring better outcomes & therapeutic intervention
- Saving time & costs by reducing the number of traditional clinical & genetic tests
- Combination of multiplex PCR and Biochip to distinguish between multiple wildtype and mutant DNA regions
- Cascade screening can be performed across both FH arrays to further improve diagnosis
- Provides information on the phenotype and prognosis which cannot be identified through traditional lipid level testing
- Suitable for use on the Evidence Investigator, a semi-automated analyser identifying FH in under 3 hours
The Familial Hypercholesterolemia (FH) Arrays I & II are rapid, simple and accurate diagnostic tests which enable simultaneous detection of 40 FH-causing mutations (20 mutations per array) within the low-density lipoprotein receptor (LDLR), apo‑lipoprotein B (ApoB) and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. Generally, mutations within the LDLR gene are the most common, with a prevalence of 1 in 500. The ApoB gene has a prevalence of 1 in 1000 and the PCSK9 gene less than 1 in 2500.
FH patients have elevated levels of total cholesterol (TC) and LDL-C from birth and, if untreated, develop coronary heart disease (CHD). FH is characterised by twice normal LDL-C levels in early childhood, and early myocardial infarction. A strong positive family history can imply as much as a 12-fold increased risk of early coronary disease.
Randox Familial Hypercholesterolemia Arrays
| ApoB | |
| Mutation | Protein |
| c.10580G>A | p.(Arg3527Gln) |
| LDLR | |
| Mutation | Protein |
| c.2292delA | p.(Ile764Metfs*2) |
| c.1444G>A | p.(Asp482Asn) |
| c.551G>A | p.(Cys184Tyr) |
| c.1845+11C>G | p.(=) |
| c.693C>A | p.(Cys231*) |
| c.933delA | p.(Glu312Serfs*58) |
| c.301G>A | p.(Glu101Lys) |
| c.313+1G>A | p.(=) |
| c.1706-1G>A | p.(=) |
| c.1706-1G>A | p.(Cys677Arg) |
| c.2029T>C | p.(Pro685Leu) |
| c.2054C>T | p.(Trp483Arg) |
| c.1447T>C | p.(Gly478Arg) |
| c.1447T>C | p.(Asp72Thrfs*134) |
| c.214delG | p.(Trp87Gly) |
| c.259T>G | p.(Arg633Cys) |
| c.1897C>T | p.(Asp227Glu) |
| c.681C>G | p.(Asn688Glnfs*29) |
| PCSK9 | |
| Mutation | Protein |
| c.1120G>T | p.(Asp374Tyr) |
| LDLR | |
| Mutation | Protein |
| c.1285G>A | p.(Val429Met) |
| c.680_681delAC | p.(Asp227Glyfs*12) |
| c.1187-10G>A | p.(=) |
| c.1048C>T | p.(Arg350*) |
| c.118delA | p.(Ile40Serfs*166) |
| c.1168A>T | p.(Lys390*) |
| c.232C>T | p.(Arg78Cys) |
| c.1587-1G>A | p.(=) |
| c.1706-10G>A | p.(=) |
| c.1796T>C | p.(Leu599Ser) |
| c.1436T>C | p.(Leu479Pro) |
| c.1474G>A | p.(Asp492Asn) |
| c.501C>A | p.(Cys167*) |
| c.662A>G | p.(Asp221Giy) |
| c.682G>T | p.(Glu228*) |
| c.1150C>T | p.(Gln384*) |
| c.938G>A | p.(Cys313Tyr) |
| c.136T>G | p.(Cys46Gly) |
| c.2042G>C | p.(Cys681Ser) |
| c.1618G>A | p.(Ala540Thr) |
The Evidence Investigator
Meet the Evidence Investigator
The Randox FH arrays has been developed for the Evidence Investigator, a semi-automated benchtop immunoassay analyser.
The FH arrays would provide an early diagnosis of specific mutations, reduce morbidity and mortality from premature CVD ensuring better patient outcomes & therapeutic intervention.
Want to know more?
Contact us or visit our Investigator Webpage