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Familial Hypoalphalipoproteinemia (main mutations) |
FHA |
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Signs/symptoms: |
Decreased high density lipoprotein (HDL) cholesterol. There are usually no observable signs or symptoms that a person produces too little HDL-cholesterol. |
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Complications: |
Atherosclerosis, coronary heart disease |
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Early diagnosis/treatment: |
Yes |
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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. |
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Material required: |
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Blood tubes: |
EDTA whole blood (do not freeze, do not centrifugate) |
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Mouth brush: |
No |
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Chromosomal localization: |
9q22-q31 |
OMIM number: |
604091 |
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ATP-binding casette 1 (main mutations) |
ABCA1 |
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Gene regions tested: |
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Gene regions: |
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Amino acid positions: |
W530S, Q537R, -1bpnt1764, -3bpnt2017, N875S, A877C, C1417R, S1446L |
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Nucleotide positions: |
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Test methods: |
Sequencing |
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TP REVAL: |
2100 |
TP Value: |
0.9 |
CHF |
1890.00 |
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Other europe: |
EUR |
1200.00 |
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Other regions: |
USD |
call |
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| 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. | |
