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Fabry Disease
Short Description : Fabry Disease genetic testing (GLA gene)
Also known as : [Alpha-Galactosidase A Deficiency],[Anderson-Fabry Disease]


DNA/RNA
Test performed by: LabPLUS - Dept. Diagnostic Genetics - Molecular Genetics


Referral Requirements

Important Note:

Requires referral through Metabolic, the Cardiac Inherited Disease Group or Genetic Services.

Contacts:

Cardiac Inherited Disease Group can be contacted on (09) 307 4949 ext. 23634.

Genetic Health Service NZ can be contacted on 0800 476 123.

 


Specimen Collection

For FABRY'S (GLA) ENZYME ANALYSIS-Please send to National Testing Centre


EDTA8 mL Adult EDTA Blood
EDTA4 mL Paediatric EDTA Blood

Note:

For paediatric samples a minimum of 0.5ml blood EDTA can be processed. (Microcollect)

Transport all bloods at room temperature within 24-48 hours. If necessary specimens can be refrigerated overnight for transport at room temperature the following day.

For testing of other sample types please contact the laboratory prior to sending.


Turnaround Time: 13 weeks
Contact Information

Contact Molecular Genetics via:

Lablink                                                     ext 22000

Mark Greenslade (Technical Head)   ext 22010

Pippa Grainger (Section leader)              ext 22014

Email: DGen@adhb.govt.nz




Background Information


Fabry disease results from deficient activity of the enzyme alpha-galactosidase (alpha-Gal A) and progressive lysosomal deposition of globotriaosylceramide (GL-3) in cells throughout the body. The classic form, occurring in males with less than 1% alpha-Gal A enzyme activity, usually has its onset in childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesias), the appearance of vascular cutaneous lesions (angiokeratomas), hypohidrosis, characteristic corneal and lenticular opacities, and proteinuria. Gradual deterioration of renal function to end-stage renal disease (ESRD) usually occurs in men in the third to fifth decade. In middle age, most males successfully treated for ESRD develop cardiovascular and/or cerebrovascular disease, a major cause of morbidity and mortality. Heterozygous females typically have milder symptoms at a later age of onset than males. Rarely, they may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. In contrast, males with greater than 1% alpha-Gal A activity may have either (1) a cardiac variant phenotype that usually presents in the sixth to eighth decade with left ventricular hypertrophy, mitral insufficiency and/or cardiomyopathy, and proteinuria, but without ESRD, or (2) a rental variant phenotype, associated with ESRD but without the skin lesions or pain.

GLA is the only gene currently known to be associated with Fabry disease:

References
1. Ashton-Prolla et al. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Investig Med. 2000; 48:227?35.
2. Nakao et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int. 2003; 64:801?7.

For more information about the Molecular Genetics service:

Molecular Genetics information page


Last updated at 15:49:04 22/03/2021