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Familial Combined Hyperlipidemia (main LPL mutation N291S)

Metabolism 01.003

Familial Combined Hyperlipidemia (main LPL mutation N291S)

FCHL
Signs/symptoms: Elevated low density lipoprotein (LDL) cholesterol and triglycerides, hypercholesterolemia and hypertriglyceridemia.
Complications: Atherosclerosis, coronary heart disease
Early diagnosis/treatment: Yes
Combination of cholesterol and triglycerides.

Material required:
Blood tubes: EDTA whole blood (do not freeze, do not centrifugate)
Mouth brush: Yes
Chromosomal localization: 8p22 OMIM number: 609708

Lipoprotein lipase (main mutation N291S)

LPL

Gene regions tested:
Gene regions:
Amino acid positions: N291S
Nucleotide positions:
Test methods: Sequencing

Prices:

Switzerland:
8820.00 8811.01 8819.01
  TP REVAL: 250 TP Value: 0.9 CHF 225.00
Other europe: EUR 160.00
Other regions: USD call

References:
De Bruin TWA, Mailly F, Van Barlingen HHJJ, Fisher R, Castro-Cabezas M, Talmud P, Dallinga-Thie GM, Humphries SE. Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia. Europ. J. Clin. Invest. 26: 631-639,1996.

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