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Unit Code 88266:
Fabry Disease, Known Mutation

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnostic confirmation of Fabry disease when familial mutations have

been previously identified

 

Carrier screening of at-risk individuals when a mutation in the GLA gene

has been identified in an affected family member

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

Documentation of the specific familial mutation must be provided

with the specimen in order to perform this test.

Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)

 Unit Code  Reporting Name  Available Separately  Always Performed 
80333 Fibroblast Culture for Genetic Test Yes No
80334 Amniotic Fluid Culture/Genetic Test Yes No

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

Note:  This testing algorithm only applies to prenatal

         testing.

If amniotic fluid (non-confluent cultured cells) is received, amniotic

fluid culture/genetic test will be added and charged separately. If

chorionic villus specimen (non-confluent cultured cells) is received,

fibroblast culture for genetic test will be added and charged

separately.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

• Fabry Disease Testing Algorithm 

Method Name A short description of the method used to perform the test

88266: Polymerase Chain Reaction (PCR) Amplification/DNA
Sequencing are utilized to test for the presence of a
specific mutation in the GLA gene previously identified
in an affected family member.
(PCR is utilized pursuant to a license agreement with
Roche Molecular Systems, Inc.)
80333, 80334: Cell Culture
General Information:
See "Fabry Disease Testing Algorithm" in
Special Instructions.

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Fabry Disease Known Mutation

Ordering Mnemonic An alternate Mayo code (to the Unit Code) for a test

FABRYKM
FABKM

Aliases Lists additional common names for a test, as an aid in searching

alpha-galactosidase A

cardiac variant Fabry disease

renal variant Fabry disease

Soft-FABKM