Printer-friendly version

Familial Hypoalphalipoproteinemia (main mutations)

Cardiology 04.016

Familial Hypoalphalipoproteinemia (main mutations)


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 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

ATP-binding casette 1 (main mutations)


Gene regions tested:

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



8820.00 8811.01 8819.01
  TP REVAL: 2100 TP Value: 0.9 CHF 1890.00
Other europe: EUR 1200.00
Other regions: USD call


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.