Fabry Disease


Related Gene(s): GLA

Fabry disease is an X-linked lysosomal storage disorder caused by a marked deficiency of α-galactosidase A enzyme activity. Affected individuals are unable to degrade globotriaosylceramide (GL-3, also called Gb3) and related glycolipids in their lysosomes. The progressive accumulation of GL-3 and its derivative, lyso-GL-3, results in symptoms that include characteristic skin lesions (angiokeratomas), decreased sweating (hypohidrosis), chronic fatigue, depression, neuropathic pain in the hands and feet (acroparesthesia), gastrointestinal issues, strokes, cardiac disease (including left ventricular hypertrophy, leading to hypertrophic cardiomyopathy), and renal disease (proteinuria to end stage renal disease).

Fabry disease affects both men and women (heterozygotes), but the testing strategy varies based on sex. α-galactosidase A enzyme analysis alone detects all affected males, but is not reliable for the detection of Fabry disease in heterozygotes. Sequencing of the α-galactosidase A gene is recommended for the diagnosis of females with Fabry disease. DNA analysis is performed by full gene sequencing of all exons (coding regions), 20-30 base pairs into the introns (including splice sites), and the promoter region. This methodology should identify >99% of mutations in male and >96% of mutations in females reported in the Human Gene Mutation Database, as well as novel mutations.

Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.


Specimen Requirements

Prenatal

  • Cultured cells: Two confluent T-25 flasks. Additionally, please send a control T-25 flask with similar demographic information

Postnatal

  • For adults
  • Blood: Two 5-10 mL tubes with EDTA (lavender top) or two 5-10 mL tubes with ACD (yellow top) from the patient

  • For newborns or children
  • Blood: 2 mL in pediatric EDTA tube (lavender top) or 2 mL in pediatric ACD tube (yellow top) from patient

Ordering Information

Shipping

  • Ship at room temperature

Turnaround Time

  • 2-3 weeks


Related Tests


Resources

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