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Unit Code 88266:
Fabry Disease, Known Mutation

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Useful For

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

Reflex Tests

 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

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.

Method Name

88266: Polymerase Chain Reaction (PCR) Amplification/DNA
Sequencing is 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

Reporting Name

Fabry Disease Known Mutation

Ordering Mnemonic

FABRYKM
FABKM

Aliases

alpha-galactosidase A

cardiac variant Fabry disease

renal variant Fabry disease

Key