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Familial Dysbetalipoproteinemia (sequence of binding site)

Metabolism 01.007

Familial Dysbetalipoproteinemia (sequence of binding site)

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 (FDL). Other very rare mutations may cause also FDL.

Material required:
Blood tubes: EDTA whole blood (do not freeze, do not centrifugate)
Mouth brush: No
Chromosomal localization: 19q13.2 OMIM number: 107741

Apolipoprotein E (sequence of binding site)

APOE

Gene regions tested:
Gene regions: LDLR-binding sequence E2/E3/E4-Variants
Amino acid positions: C112R, R158C, R136S, A106V
Nucleotide positions:
Test methods: Sequencing

Prices:

Switzerland:
8820.00 8811.01 8818.00 8819.01 8055.00
  TP REVAL: 320 TP Value: 0.9 CHF 288.00
Other europe: EUR 200.00
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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