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Fabry's Disease (sequence of entire gene)

Cardiology 04.009

Fabry's Disease (sequence of entire gene)

FABR
Signs/symptoms: Cardiomyopathy
Complications: Lysosomal storage disease. Strokes and heart disease.
Early diagnosis/treatment: Yes
Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids.

Material required:
Blood tubes: EDTA whole blood (do not freeze, do not centrifugate)
Mouth brush: No
Chromosomal localization: Xq22 OMIM number: 301500

Galactosidase, alpha (sequence of entire gene)

GLA

Gene regions tested:
Gene regions: entire gene
Amino acid positions:
Nucleotide positions:
Test methods: Sequencing

Prices:

Switzerland:
8820.00 8811.01 8818.00 8819.01 8810.20
  TP REVAL: 650 TP Value: 0.9 CHF 585.00
Other europe: EUR 390.00
Other regions: USD call

References:
Schafer E, Baron K, Widmer U, Deegan P, Neumann HP, Sunder-Plassmann G, Johansson JO, Whybra C, Ries M, Pastores GM, Mehta A, Beck M, Gal A. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease. Hum Mutat. 2005;25:412.

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