Familial Hypercholesterolemia

Rapid & Reliable Genetic Assessment

Genetic Assessment of Patients with Suspected Familial Hypercholesterolemia (FH)

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    Early diagnosis of specific mutations reducing morbidity and mortality from premature CVD ensuring better outcomes & therapeutic intervention
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    Saving time & costs by reducing the number of traditional clinical & genetic tests
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    Combination of multiplex PCR and Biochip to distinguish between multiple wildtype and mutant DNA regions
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    Cascade screening can be performed across both FH arrays to further improve diagnosis
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    Provides information on the phenotype and prognosis which cannot be identified through traditional lipid level testing
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    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.

Biochip

Randox Familial Hypercholesterolemia Arrays

  • FH Array I
  • FH Array II
ApoB
MutationProtein
c.10580G>Ap.(Arg3527Gln)
LDLR
MutationProtein
c.2292delAp.(Ile764Metfs*2)
c.1444G>Ap.(Asp482Asn)
c.551G>Ap.(Cys184Tyr)
c.1845+11C>Gp.(=)
c.693C>Ap.(Cys231*)
c.933delAp.(Glu312Serfs*58)
c.301G>Ap.(Glu101Lys)
c.313+1G>Ap.(=)
c.1706-1G>Ap.(=)
c.1706-1G>Ap.(Cys677Arg)
c.2029T>Cp.(Pro685Leu)
c.2054C>Tp.(Trp483Arg)
c.1447T>Cp.(Gly478Arg)
c.1447T>Cp.(Asp72Thrfs*134)
c.214delGp.(Trp87Gly)
c.259T>Gp.(Arg633Cys)
c.1897C>Tp.(Asp227Glu)
c.681C>Gp.(Asn688Glnfs*29)
PCSK9
MutationProtein
c.1120G>Tp.(Asp374Tyr)
LDLR
MutationProtein
c.1285G>Ap.(Val429Met)
c.680_681delACp.(Asp227Glyfs*12)
c.1187-10G>Ap.(=)
c.1048C>Tp.(Arg350*)
c.118delAp.(Ile40Serfs*166)
c.1168A>Tp.(Lys390*)
c.232C>Tp.(Arg78Cys)
c.1587-1G>Ap.(=)
c.1706-10G>Ap.(=)
c.1796T>Cp.(Leu599Ser)
c.1436T>Cp.(Leu479Pro)
c.1474G>Ap.(Asp492Asn)
c.501C>Ap.(Cys167*)
c.662A>Gp.(Asp221Giy)
c.682G>Tp.(Glu228*)
c.1150C>Tp.(Gln384*)
c.938G>Ap.(Cys313Tyr)
c.136T>Gp.(Cys46Gly)
c.2042G>Cp.(Cys681Ser)
c.1618G>Ap.(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.

Evidence Investigator

Want to know more?

Contact us or visit our Investigator Webpage

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