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Unit Code 84367:
Galactosemia Gene Analysis, Known Mutation

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Useful For

Confirmation of diagnosis of galactosemia in a sibling or other

relative of an individual with documented GALT mutations

 

Predictive testing of potential galactosemia carriers in families of

individuals with documented GALT mutations

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 (nonconfluent cultured cells) is received, amniotic

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

If chorionic villus specimen (nonconfluent cultured cells) is

received, fibroblast culture for genetic test will be added and

charged separately.

Special Instructions and Forms

• Molecular Genetics - Congenital Inherited Diseases Patient Information Sheet 
• Molecular Genetics - Biochemical Disorders Patient Information Sheet 

Method Name

#84367:  Polymerase chain reaction (PCR)-based assay
is utilized to test for the presence of a specific mutation 
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

Galactosemia Known Mutation

Ordering Mnemonic

GALTKM
GAL1

Aliases

Galactosemia Known Mutation

GALT

GALT DNA

Key