Fabry disease. Sequencing of the GLA gene [1 gene]

Fabry disease is a hereditary lysosomal disorder caused by a deficiency of the enzyme α-galactosidase A (α-Gal A) that results in progressive accumulation of globotriaosylceramide (Gb3). This disease has an X-linked inheritance pattern, where males present the classic form of Fabry disease, characterized by an almost complete absence of α-Gal A activity, onset during childhood or adolescence, and presence of acroparesthesia, angiokeratoma, hypo- or hyperhidrosis, proteinuria, corneal and lenticular opacity, impaired kidney function with kidney failure between the third and fifth decades of live, cardiac and cerebrovascular complications. Heterozygous females typically present less severe forms with symptoms that have a later onset than males.

1-5/10,000

Identifying genetic variants causing Fabry syndrome allows for a precise molecular diagnosis that provides the information necessary to perform genetic counseling, direct patient management and offers predictive value to carrier patients.

Patient management:

• Angiotensin-converting enzyme inhibitors
• Angiotensin receptor blockers
• Hemodialysis and kidney transplant
• Enzyme replacement
• Genetic counseling
• Pharmacological treatment for acroparesthesia

This panel is indicated when Fabry syndrome is suspected, which may include the following clinical characteristics:

• Acroparesthesias
• Angiokeratomas
• Anhidrosis, hypohidrosis and hyperhidrosis (rare)
• Corneal and lenticular opacity
• Stroke
• Ventricular hypertrophy
• Kidney failure
• Proteinuria
• Glomerulosclerosis