FABRY DISEASE TESTING PROGRAM - Duke can have variable presentation, ranging from few symptoms to...
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ABOUT FABRY DISEASE Fabry disease is a genetic disorder caused by a deficiency of alpha-galactosidase A (α-Gal) activity. Mutations in the GLA gene, located on the X–chromosome, can cause various levels of enzyme deficiency. Fabry disease affects multiple organ systems and results in a high rate of morbidity and early mortality. For this reason, making the correct diagnosis early is a critical step toward optimizing your patient’s care. CLINICAL PRESENTATION: Early (childhood) symptoms may include neuropathic pain, impaired sweating, heat/cold intolerance, exercise intolerance and chronic fatigue, GI disturbances, frequent fevers, angiokeratoma, and corneal whorling (a starburst pattern on the cornea) that does not typically impact vision. With disease progression, symptoms may include tinnitus and hearing loss, proteinuria progressing to renal failure, left ventricular hypertrophy and cardiac rhythm abnormalities, chronic headaches, TIAs and ischemic stroke. Females can have variable presentation, ranging from few symptoms to classic disease manifestations similar to men. THE DUKE FABRY DISEASE TESTING PROGRAM The Duke Biochemical and Molecular Diagnostics laboratories offer free diagnostic testing through the Fabry Disease Testing Program. There is no cost to the patient or provider for this testing; however, phlebotomy is not covered. This testing program is comprehensive and includes α-GAL enzyme activity, GLA gene sequencing and plasma lyso-GB3 testing as appropriate. 1 FABRY DISEASE TESTING PROGRAM DUKE UNIVERSITY HOSPITAL BIOCHEMICAL and MOLECULAR GENETICS LABORATORIES
Transcript of FABRY DISEASE TESTING PROGRAM - Duke can have variable presentation, ranging from few symptoms to...
ABOUT FABRY DISEASE Fabry disease is a genetic disorder caused by a deficiency of alpha-galactosidase A (α-Gal) activity. Mutations in the GLA gene, located on the X–chromosome, can cause various levels of enzyme deficiency. Fabry disease affects multiple organ systems and results in a high rate of morbidity and early mortality. For this reason, making the correct diagnosis early is a critical step toward optimizing your patient’s care. CLINICAL PRESENTATION: Early (childhood) symptoms may include neuropathic pain, impaired sweating, heat/cold intolerance, exercise intolerance and chronic fatigue, GI disturbances, frequent fevers, angiokeratoma, and corneal whorling (a starburst pattern on the cornea) that does not typically impact vision. With disease progression, symptoms may include tinnitus and hearing loss, proteinuria progressing to renal failure, left ventricular hypertrophy and cardiac rhythm abnormalities, chronic headaches, TIAs and ischemic stroke. Females can have variable presentation, ranging from few symptoms to classic disease manifestations similar to men. THE DUKE FABRY DISEASE TESTING PROGRAM The Duke Biochemical and Molecular Diagnostics laboratories offer free diagnostic testing through the Fabry Disease Testing Program. There is no cost to the patient or provider for this testing; however, phlebotomy is not covered. This testing program is comprehensive and includes α-GAL enzyme activity, GLA gene sequencing and plasma lyso-GB3 testing as appropriate. 1
FABRY DISEASE TESTING PROGRAM
DUKE UNIVERSITY HOSPITAL BIOCHEMICAL and MOLECULAR GENETICS LABORATORIES
HOW DO I TEST MY PATIENTS? Whole blood is required for the Duke Fabry Testing Program. Whole blood allows us to measure enzyme activity, perform full GLA gene sequencing and measure plasma lyso-GB3 using the same, single blood sample. IS THERE A TEST KIT AVAILABLE? • Fabry disease test kits are available if needed. Test kits include the necessary
purple-top/EDTA tube, pre-paid shipping label and cold-pak for collection and shipment of a whole blood sample.
• If you would like to have a test kit sent to you at no charge, please place your order online at: https://lsdtesting.myregistrationp.com
or call toll free: 877-873-2753. AM I REQUIRED TO USE THE DUKE TEST KIT? NO. Providers may collect and send samples without using the Duke Fabry Disease Test Kit. **However: In order for the testing to be done at no cost, each sample MUST be accompanied by a signed, Fabry Disease Testing Program Requisition Form available from your local Genzyme representative. For questions please contact: Jennifer Goldstein (genetic counselor): 919-684-0626; [email protected] Deeksha Bali (laboratory director): 919-684-0025; [email protected] Sarah Young (laboratory director): 919-684-4259; [email protected] HOW LONG DOES IT TAKE TO GET RESULTS? • Test results will be faxed to the provider with 2-3 weeks. • If you do not receive the results or need additional copies, please contact the
lab at 919-684-0189 or 919-684-2722 or [email protected] or [email protected]
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