Familial Defective Apo B-100 (main mutation R3'500Q)

Cardiology

04.011

Familial Defective Apo B-100 (main mutation R3'500Q)

FDB

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

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 (main mutation R3'500Q)

APOB

Gene regions tested:
Gene regions:
Amino acid positions:	R3’500Q
Nucleotide positions:
Test methods:	Restriction Fragment Length

Prices:

Switzerland:

8820.00

8811.01

8818.00

	TP REVAL:	170	TP Value:	0.9	CHF	153.00
Other europe:	EUR					120.00
Other regions:	USD					call

References:

Miserez AR, Laager R, Chiodetti N, Keller U. High prevalence of familial defective apolipoprotein B-100 in Switzerland. J Lipid Res. 1994;35:574-583.

Miserez AR, Keller U. Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia. Arterioscler Thromb Vasc Biol. 1995;15:1719-1729.

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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Familial Defective Apo B-100 (main mutation R3'500Q)