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Familial Defective Apo B-100 (sequence of binding site)

Metabolism 01.005

Familial Defective Apo B-100 (sequence of binding site)

FDB
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. Cholesterol may be normal until the age of 20-30 years.

Material required:
Blood tubes: EDTA whole blood (do not freeze, do not centrifugate)
Mouth brush: Yes
Chromosomal localization: 2p24 OMIM number: 107730

Apolipoprotein B-100 (sequence of binding site)

APOB

Gene regions tested:
Gene regions:
Amino acid positions: R3’500Q, R3’500W, H3543Y
Nucleotide positions:
Test methods: Sequencing

Prices:

Switzerland:
8820.00 8811.01 8818.00 8819.01
  TP REVAL: 270 TP Value: 0.9 CHF 243.00
Other europe: EUR 180.00
Other regions: USD call

References:
Soria LF, Ludwig EH, Clarke HRG, Vega GL, Grundy SM, McCarthy BJ. Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. Proc. Nat. Acad. Sci. 86: 587-591,1989.

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