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Gene Target: GLA

Fabry Disease

Fabry Disease is a genetic condition associated with variants in the GLA gene or genes. Molecular genetic testing can assist with diagnostic confirmation, familial assessment, and appropriate clinical evaluation.


Indications: Why test GLA?

  • Clinical findings suggestive of Fabry Disease.
  • Family history of Fabry Disease or a known familial genetic variant.
  • Molecular confirmation following appropriate clinical assessment.
  • Genetic assessment of relatives where clinically indicated.

When should I take the test? Testing may be considered when clinical findings or family history suggest Fabry Disease and molecular confirmation is clinically indicated.

Do I need to fast or prepare? No fasting or special preparation is required.

Test Summary Specs

Turnaround Time 7 to 14 Business Days
Estimated Cost KES 29,000
Methodology Targeted PCR / Sanger / NGS Variant Panel
Sample Type 5 mL Peripheral Whole Blood (EDTA), Buccal Swabs, or Prenatal Samples
Clinical Use Diagnostic Confirmation, Carrier Screening, Reproductive Risk Assessment
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