Familial Hypercholesterolemia (sequencing of mutation in relatives if known)

Metabolism

01.009

Familial Hypercholesterolemia (sequencing of mutation in relatives if known)

FHC

Signs/symptoms:	Elevated low density lipoprotein (LDL) cholesterol, hypercholesterolemia. Tendinous xanthomas
Complications:	Atherosclerosis, coronary heart disease
Early diagnosis/treatment:	Yes

2- to 3-fold increased LDL cholesterol concentrations from birth.

Material required:
Blood tubes:	EDTA whole blood (do not freeze, do not centrifugate)
Mouth brush:	No

Chromosomal localization:

19p13.2

OMIM number:

606945

Low density lipoprotein receptor (sequencing of mutation in relatives if known)

LDLR

Gene regions tested:
Gene regions:	known mutation
Amino acid positions:
Nucleotide positions:
Test methods:	Sequencing

Prices:

Switzerland:

8820.00

8811.01

8819.01

8814.00

	TP REVAL:	700	TP Value:	0.9	CHF	250.00
Other europe:	EUR					160.00
Other regions:	USD					call

References:

Miserez AR, Schuster H, Chiodetti N, Keller U. Polymorphic haplotypes and recombination rates at the LDL receptor gene locus in subjects with and without familial hypercholesterolemia who are from different populations. Am J Hum Genet. 1993;52:808-826.

Muller PY, Miserez AR. Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia. Atheroscler Suppl. 2004;5:1-5.

Yuan G, Wang J, Hegele RA. Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease. CMAJ. 2006;174:1124-1129.

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Familial Hypercholesterolemia (sequencing of mutation in relatives if known)