Fabry Disease

Introduction

Fabry disease is an X-linked recessive lipid storage disorder caused by a deficiency of the lysosomal enzyme alphagalactosidase A. This deficiency results in the gradual accumulation of ceramide trihexoside in the walls of the blood vessels and tissues such as the heart, kidneys, and brain, which causes progressive damage and potentially life-threatening problems. Fabry disease is a multisystemic disorder characterised by pain in the extremities in the teens, angiokeratoma, and, in later life, renal disease and stroke. There is a broad spectrum of disease severity, and both cardiac and renal variants have been described. Due to X-linked recessive inheritance, males are more often affected with Fabry disease than females. However, females who are carriers of this disorder often have symptoms ranging from mild or late-onset to severe and this may depend in part on the randomness of X-inactivation and occasionally skewed X-inactivation.  Females can be asymptomatic. The GLA gene is located on Chromosome Xq22. Mutations in GLA result in enzyme deficiency and the subsequent development of Fabry Disease.

Referral information

This service is funded by the National Commissioning Group (NCG). Samples received from England, Northern Ireland and Scotland are charged to the NCG with the majority of samples being received from The Willink Metabolic Unit. New patients are initially diagnosed by enzyme analysis; therefore patients will usually have already been referred to a relevant NCG centre before DNA analysis is requested. Funding from the NCG also covers carrier detection, by DNA analysis, for family members.

Price & reporting times

Test	Price NHS (£)	Price non- NHS (£ )	TRT (calendar days)
Mutation scanning	POA	POA	56
Single mutation test	POA	POA	28
Urgent/Predictive single mutation test	POA	POA	14

Test validation & quality assurance - information for users

The laboratory is UKAS assessed against ISO 15189 standards.

Sample requirements

5ml EDTA blood sample

Referral guidelines

Please see our referral guidelines for more information.

OMIM Number(s) - 301500

Gene(s) - GLA