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Recommendations when to order or not order the test. May include related or preferred tests.
Enzyme testing is reliable for diagnosing Fabry disease in males; it does not detect carriers. For carrier status, DNA analysis is recommended.
New York DOH Approval Status
Indicates whether a test has been approved by the New York State Department of Health.
This test is New York state approved.
Specimen Required
Patient PreparationInstructions patient must follow before/during specimen collection.
CollectSpecimen type to collect. May include collection media, tubes, kits, etc.
Serum separator tube (SST). Also acceptable: Plain red.
Specimen PreparationInstructions for specimen prep before/after collection and prior to transport.
Transfer 2 mL serum to an ARUP standard transport tube. (Min: 0.3 mL) Test is not performed at ARUP; separate specimens must be submitted when multiple tests are ordered.
Storage/Transport TemperaturePreferred temperatures for storage prior to and during shipping to ARUP. See Stability for additional info.
CRITICAL FROZEN.
Unacceptable ConditionsCommon conditions under which a specimen will be rejected.
Thawed specimens.
RemarksAdditional specimen collection, transport, or test submission information.
Patient sex is required for interpretation of results. Physician name and phone number are required. New York Clients: Informed consent is required. Document on the request form or electronic order that a copy is on file.
StabilityAcceptable times/temperatures for specimens. Times include storage and transport time to ARUP.
The American Medical Association Current Procedural Terminology (CPT) codes published in ARUP's Laboratory Test Directory are provided for informational purposes only. The codes reflect our interpretation of CPT coding requirements based upon AMA guidelines published annually. CPT codes are provided only as guidance to assist clients with billing. ARUP strongly recommends that clients confirm CPT codes with their Medicare administrative contractor, as requirements may differ. CPT coding is the sole responsibility of the billing party. ARUP Laboratories assumes no responsibility for billing errors due to reliance on the CPT codes published.
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
Other names that describe the test. Synonyms.
Anderson Fabry Disease (Alpha Galactosidase, Serum)