Familial Hypoalphalipoproteinemia (main mutations)

Metabolism

01.010

Familial Hypoalphalipoproteinemia (main mutations)

FHA

Signs/symptoms:	Decreased high density lipoprotein (HDL) cholesterol. There are usually no observable signs or symptoms that a person produces too little HDL-cholesterol.
Complications:	Atherosclerosis, coronary heart disease
Early diagnosis/treatment:	Yes

Familial hypoalphalipoproteinemia includes a variety of conditions, ranging from mild to severe, in which concentrations of alpha-lipoproteins or high-density lipoprotein (HDL) are reduced. The etiology of HDL deficiencies is due to mutations in the apo A1 gene which maps to 11q23.3.

Material required:
Blood tubes:	EDTA whole blood (do not freeze, do not centrifugate)
Mouth brush:	No

Chromosomal localization:

11q23

OMIM number:

107680

Apolipoprotein A1 (main mutations)

APOA1

Gene regions tested:
Gene regions:
Amino acid positions:	Q(-2)X, R10L, Q32X, A37T, Q84X, V156E, P165R, R173C
Nucleotide positions:
Test methods:	Sequencing

Prices:

Switzerland:

8820.00

8811.01

8819.01

	TP REVAL:	1800	TP Value:	0.9	CHF	1620.00
Other europe:	EUR					1100.00
Other regions:	USD					call

References:

von Eckardstein A, Funke H, Henke A, Altland K, Benninghoven A, Assmann G, Welp S, Roetrige A, Kock R. Apolipoprotein A-I variants: naturally occurring substitutions of proline residues affect plasma concentration of apolipoprotein A-I. J. Clin. Invest. 1989;84:1722-1730.

Browse Gene Tests

To view all our gene tests, please visit our Test Menu.

Familial Hypoalphalipoproteinemia (main mutations)