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Institute of Metabolic Disease at Baylor Research Institute
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DNA Analysis for Fabry Disease by GLA Gene Sequencing
Fabry Disease (FD) is an X- chromosomal disorder caused by mutation in the gene encoding the lysomomal enzyme alpha-galactosidase A. Accumulation of nondigestible metabolites results in Fabry disease.
The GLA gene is about 12 kb in size. It is located on X-chromosome (Xq22.1). Mutation relevant for Fabry Disease can be found on all of the 7 exons. Genetic testing for Fabry Disease is performed by screening for mutations by direct DNA sequencing.
For unknown mutations, all of FD gene exons are amplified from patient's genomic DNA by using specific intronic primers. The corresponding PCR product templates are purified. Bi-directional sequencing of PCR products is performed on an ABI Prism 3100 DNA Sequencer (PE Applied Biosystems).
For known Fabry mutations, only the appropriate exons will be sequenced.
Download Test Requisition
Department: Molecular Diagnostics
Methodology: Polymerase Chain Reaction (PCR) to amplify all of exons of gene and direct sequencing by Applied Biosystems sequencer 3100
Sample:
• Whole Blood (preferred) – 1 mL of whole blood collected in an EDTA (lavender top) or an ACD (yellow top) tube. For the ACD tube, solution A is preferred. Minimum sample volume – 0.5 mL
• Dried blood spot card – 3 to 5 completely filled spots
• Fibroblasts – 2 confluent T-25 flasks
Special Notes:
Contact the Molecular Diagnostics Laboratory Director prior to submitting a sample.
FOR KNOWN MUTATION ANALYSIS (such as carrier testing) – indicate the mutation(s) on the test requisition; additionally, submit supporting documentation of the characterization of the mutation.
PRENATAL DIAGNOSIS: Prenatal Diagnosis for known Fabry mutations can be performed on a RESEARCH basis – contact the Molecular Diagnostics Laboratory Director for more information.
Shipping and Handling:
Ship all sample types at room temperature using a guaranteed overnight courier.
CPT code: 83890, 83891 x 7, 83892, 83894 x 7, 83898 x 7, 83904 x 7, 83909 x 7, 83912
Cost: Sequencing: $1300.00
Individual mutation(s): $275.00 per mutation
Turnaround time: 4-8 weeks from receipt of sample.
Related Tests:
Contact the lab for more information.
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