Testing for Fabry Disease. What You Need to Know

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Cornelia Kelley
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1 Testing for Fabry Disease What You Need to Know

2 Identification of One Family Member Can Enable Earlier Screening for Others A woman with Fabry disease may have inherited it from either her mother or her father A man with Fabry disease could only have inherited it from his mother; because the disease is X-linked, a father will not pass it on to his sons, but will pass it on to all of his daughters Identification of one family member can enable earlier screening of others TESTING FOR FABRY DISEASE If you suspect Fabry disease in a patient, testing is a straightforward process. Affected males typically have low ɑ-gal A enzyme activity Affected females may have normal to low-normal enzyme activity. Therefore proceed directly to GLA gene sequencing. n-affected Father Affected Mother Affected Father n-affected Mother ɑ-gal A enzyme assay Mutation found on GLA gene sequencing XY XY Low ɑ-gal A enzyme activity Fabry disease diagnosis confirmed Fabry disease diagnosis confirmed can determine family XY XY XY XY Each daughter has a 1 in 2 chance of having the affected gene (50% risk) Each son will have a 1 in 2 chance of having the affected gene (50% risk) All daughters will have the affected gene (100% risk) sons will be affected (0% risk) In males, definitive diagnosis can be made by assaying for deficient α-galactosidase (α-gal) enzyme activity in plasma, leukocytes, biopsied tissue or dried whole blood. can then determine the gene that is passed down in a family, which can be useful for screening other family members. Females with Fabry disease may have enzyme activity in the normal to low-normal range. Though an enzyme assay is not required for diagnosis, results can be helpful for understanding genotype-phenotype correlations. TESTING FOR FABRY DISEASE TESTING FOR FABRY DISEASE 1

Options for Testing Labs across the United States offer diagnostic tests for Fabry disease, and some provide the service free of charge. Below are options available to you and your patients.

vinson@emory.edu fabry.testing@emory.e dawn.laney@emory.edu allison.louise.foley@emory.edu du GeneDx 5 weeks 888-729-1206 genedx@genedx.

3 Options for Testing Labs across the United States offer diagnostic tests for Fabry disease, and some provide the service free of charge. Below are options available to you and your patients. Kit available service Facility Test type Duke University * 6 weeks dbali@duke.edu Fabry Diagnostic Project Deletion/ duplication Urine GL3*, except urine GL3 6 weeks robin.vinson@emory.edu fabry.testing@emory.e dawn.laney@emory.edu allison.louise.foley@emory.edu du GeneDx 5 weeks genedx@genedx.com Greenwood Diagnostics Lab 2-3 weeks Integrated Genetics integratedgenetics.com LabCorp labcorp.com Mayo Medical Laboratories mml@mayo.edu Sema4 (Mount Sinai) 8 weeks yonina.loskove@mssm.edu Timing Contact labgc@ggc.org This is not an all inclusive list. For additional testing centers that perform diagnostic testing, please visit * GL3 is also known as GB-3. Lyso-GL3 is also known as Lyso-GB3. 2 T E S T I N G F O R FA B R Y D I S E A S E When you diagnose one patient, you make screening possible for family members. Although Fabry disease is rare in the general population, a diagnosis of one patient may lead to others within the family. In the extended family seen in this picture, 41 out of 99 family members have been diagnosed with Fabry disease. This list of testing programs and/or laboratories is provided for informational use only. It should not be considered a recommendation or endorsement of any company, test or service. Physicians are directed to contact the individual testing programs and/or laboratories for information on obtaining test requisitions, sample requirements, turnaround time and the specific details of the services provided. For commercial lab testing, appropriate coding and obtaining reimbursement is the responsibility of the provider submitting a claim for the item or service. T E S T I N G F O R FA B R Y D I S E A S E 3

DUKE UNIVERSITY The Duke Biochemical and Molecular Diagnostics laboratories offer diagnostic testing for Fabry disease via enzyme assay and DNA testing. Do not ship samples on a Friday.

4 DUKE UNIVERSITY The Duke Biochemical and Molecular Diagnostics laboratories offer diagnostic testing for Fabry disease via enzyme assay and DNA testing. Do not ship samples on a Friday. If sample must be drawn on a Friday, please store the sample through the weekend at 4 C and ship sample on the following business day with a cold pack enclosed. THE FABRY DIAGNOSTIC PROJECT This program is offered in partnership with the American Association of Kidney Patients (AAKP). Pre- and post-test genetic counseling is available as part of this program. Test Billing Sample required time Alpha-galactosidase A levels 5-10 ml in Sodium Heparin (green top) tube or dried blood spot 7-10 days Types of tests included Enzyme test (α-gal enzyme activity testing) GLA gene sequencing Billing Insurance or other Insurance or other Insurance or other Sample required 5 ml whole blood, lavender top tube 5 ml whole blood, lavender top tube 5 ml whole blood, lavender top tube time (faxed report) 10 days 2-3 weeks 2-3 weeks GLA gene sequencing 5-10 ml in EDTA (purple top) tube, ACD (yellow top) tube or saliva in Oragene Saliva Collection Kit Known familial 5-10 ml in EDTA (purple top) tube, ACD (yellow top) tube or saliva in Oragene Saliva Collection Kit 5-10 ml in EDTA (purple top) tube, ACD (yellow top) tube or saliva in Oragene Saliva Collection Kit 2-3 weeks Insurance or other 5 ml whole blood, lavender top tube 3- Total turnaround time for possibly affected individuals is 6 weeks Contact information For general inquiries, call For technical questions on enzyme testing, Dr. Deeksha Bali dbali@duke.edu. For technical questions on gene sequencing, Catherine Rehder at catherine.rehder@duke.edu. For more information, visit: Urine GL3 Insurance or other 1-8 ml first morning urine 7-10 days *Preferable to receive a copy of genetic report with known familial if available. Contact information For test kits, testing information or optional genetic counseling, contact the Fabry Diagnostic Project at or or robin.vinson@emory.edu or dawn.laney@emory.edu or allison.louise.foley@emory.edu. Requisition form available at: lysosomal-storage-disease-center/lab-testing.html 4 TESTING FOR FABRY DISEASE TESTING FOR FABRY DISEASE 5

5 GENEDX GeneDx, a commercial genomics laboratory, offers gene sequencing to test for Fabry disease. Ship overnight at ambient temperature; use a cold pack in hot weather Specimen may be refrigerated up to 7 days prior to shipping GREENWOOD DIAGNOSTICS LAB The Greenwood Diagnostics Lab offers a full range of testing for patients with a suspected diagnosis of Fabry disease, including enzyme analysis and gene sequencing. Test Test code Billing Sample required time 2321 Insurance or other 1-5 ml, lavender top tube 4-5 weeks For enzyme analysis Whole blood samples (for leukocyte analysis) should be shipped at ambient temperature and must arrive at the laboratory within 24 hours of blood draw Cultured fibroblasts can be sent overnight at room temperature For GLA gene sequencing The specimen should be kept at room temperature and delivered via overnight shipping Known familial Contact Information 9011 Insurance or other 2-5 ml, lavender top tube 2-3 weeks 906 Insurance or other 2-5 ml, lavender top tube 3- To set up an, order a test kit or ask a question, call or genedx@genedx.com. Requisition forms are available at Test Billing Sample Required, leukocytes, DBS, fibroblasts 5-10 ml whole blood in green top tube Fill at least 3 circles completely with a single layer of blood; dry spots for 3-4 hours Two T25 flasks, plus control flask 3-5 ml peripheral blood in lavender tube or DBS card Time 3 weeks 5-10 ml EDTA (lavender) tube 3 weeks Contact information 5-10 ml EDTA (lavender) tube 3 weeks For test kits or testing information call or labgc@ggc.org. Requisition forms are available at 6 TESTING FOR FABRY DISEASE TESTING FOR FABRY DISEASE 7

6 INTEGRATED GENETICS Integrated Genetics is a commercial lab that offers enzyme assay, gene sequencing and targeted analysis. LABCORP LabCorp is a commercial laboratory that offers testing for Fabry disease, including enzyme assay and DNA testing. Refrigerate after collection. Do not allow samples to freeze Specimens must be received within 4 days of collection Please collect/ship Monday through Thursday only Specimens must be refrigerated and arrive in the laboratory within 4 days of collection Test Test code Billing Sample required time Test Test code Billing Sample required time Enzyme assay Insurance or other 5-10 ml, yellow top tube 10 days 371 Insurance or other 10 ml, lavender top tube (adults x2, children x1) 7-14 days Gene sequencing Insurance or other 7 ml, yellow top tube 28 days Specify test name on requisition form Insurance or other 10 ml, lavender top tube (x4) 7-14 days Known familial Insurance or other 7 ml, yellow top tube 28 days Contact Information Known familial Specify test name on requisition form Insurance or other 10 ml, lavender top tube (x4) 7-14 days To set up an or request testing supplies, call Visit Contact Information To set up an or request test supplies, call or visit 8 TESTING FOR FABRY DISEASE TESTING FOR FABRY DISEASE 9

7 MAYO MEDICAL LABORATORIES Mayo Medical Laboratories is an academic reference laboratory operating within Mayo Clinic s Department of Laboratory Medicine and Pathology. Fabry disease testing includes enzyme assay and DNA testing. Types of tests included Billing Sample required time (faxed report) SEMA4 (MOUNT SINAI) Sema4, formerly known as Mount Sinai Genetic Testing Laboratory, offers Fabry testing at a nominal cost. The patient is responsible only for the costs of blood draw and overnight shipping to the lab. Whole blood for all tests and/or saliva for targeted analysis Completed testing packet, leukocytes 6 ml whole blood, yellow top tube 8-15 days, serum 2 ml serum, red top tube 8-15 days Test Billing Sample required time * 3 ml whole blood, purple or yellow top tube or 2-5 DBS circles on Whatman Guthrie card days 3 ml EDTA (lavender) tube 16 days Plasma α-gal A enzyme activity Leukocyte α-gal A enzyme activity 20 ml whole blood, green top tube 20 ml whole blood, green top tube 7-10 days 7-10 days 2 ml serum 1- GLA gene sequencing 20 ml whole blood, purple top tube days * Patient Information form T768 is required for this test Contact information To set up an or order testing supplies, call or mml@mayo.edu. Required forms and instructions for specimen preparation are available at Known familial Duplication/deletion Call to discuss 20 ml whole blood OR 2 buccal brushes/ person days Duplication/deletion analysis is done only on a research basis when further testing is needed. Contact Information Yonina Loskove, call or toll-free , or yonina.loskove@mssm.edu. For testing instructions please visit 10 TESTING FOR FABRY DISEASE TESTING FOR FABRY DISEASE 11

8 tes: Sarah, a Fabry patient 12 TESTING FOR FABRY DISEASE TESTING FOR FABRY DISEASE 13

9 Facility Test type Kit available service Timing Contact Duke University 6 weeks dbali@duke.edu Fabry Diagnostic Project Urine GL3, except urine GL3 6 weeks robin.vinson@emory.edu dawn.laney@emory.edu allison.louise.foley@emory.edu GeneDx 5 weeks genedx@genedx.com Greenwood Diagnostics Lab 2-3 weeks labgc@ggc.org Integrated Genetics integratedgenetics.com LabCorp labcorp.com Mayo Medical Laboratories mml@mayo.edu Sema4 (Mount Sinai) 8 weeks yonina.loskove@mssm.edu This is not an all inclusive list. For additional testing centers that perform diagnostic testing, please visit FabryCommunity.com , option Genzyme Corporation. All rights reserved. GZUS.FD (2) Sanofi Genzyme 50 Binney Street Cambridge, MA 02142

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