Tangier's Disease (main mutations)

Metabolism

01.015

Tangier's Disease (main mutations)

FHA

Signs/symptoms:	Decreased high density lipoprotein (HDL) cholesterol. Orange tonsils, enlarged spleen, lymph nodes, hepatomegaly.
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 ranges from secondary causes, such as smoking, to specific genetic mutations, such as Tangier disease and fish eye disease.

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

Chromosomal localization:

9q22-q31

OMIM number:

604091, 600046

ATP-binding casette 1 (main mutations)

ABCA1

Gene regions tested:
Gene regions:
Amino acid positions:	W530S, Q537R, -1bpnt1764, -3bpnt2017, N875S, A877C, C1417R, S1446L
Nucleotide positions:
Test methods:	Sequencing

Prices:

Switzerland:

8820.00

8811.01

8819.01

	TP REVAL:	2100	TP Value:	0.9	CHF	1890.00
Other europe:	EUR					1300.00
Other regions:	USD					call

References:

Brooks-Wilson A, Marcil M, Clee SM, Zhang LH, Roomp K, van Dam M, Yu L, Brewer C, Collins JA, Molhuizen HOF, Loubser O, Ouelette BFF, et al. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nature Genet. 22:336-345,1999.

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Tangier's Disease (main mutations)