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Familial Dysbetalipoproteinemia (main plus additional mutations)

Metabolism 01.006

Familial Dysbetalipoproteinemia (main plus additional mutations)

FDL
Signs/symptoms: Elevated low density lipoprotein (LDL) cholesterol and triglycerides, hypercholesterolemia and hypertriglyceridemia. Type III hyperlipidemia.
Complications: Atherosclerosis, coronary heart disease
Early diagnosis/treatment: Yes
The apolipoprotein E2 variant (R158C, homozygous) is the molecular basis of familial dybetalipoproteinemia.

Material required:
Blood tubes: EDTA whole blood (do not freeze, do not centrifugate)
Mouth brush: Yes
Chromosomal localization: 19q13.2 OMIM number: 107741

Apolipoprotein E (main plus additional mutations)

APOE

Gene regions tested:
Gene regions: E2/E3/E4-Variants
Amino acid positions: C112R, R158C, R136S, A106V
Nucleotide positions:
Test methods: Restriction Fragment Length

Prices:

Switzerland:
8820.00 8811.01 8818.00 8055.00
  TP REVAL: 220 TP Value: 0.9 CHF 198.00
Other europe: EUR 150.00
Other regions: USD call

References:
Lippel K, Tyroler H, Eder H, Gotto A Jr, Vahouny G. Relationship of hypertriglyceridemia to atherosclerosis. Arteriosclerosis. 1981;1:406-417.
de Beer F, Stalenhoef AF, Hoogerbrugge N, Kastelein JJ, Gevers Leuven JA, van Duijn CM, Havekes LM, Smelt AH. Expression of type III hyperlipoproteinemia in apolipoprotein E2 (Arg158 -> Cys) homozygotes is associated with hyperinsulinemia. Arterioscler Thromb Vasc Biol. 2002;22:294-299.

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