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Unit Code 84366:
Galactosemia Gene Analysis (6 Mutation Panel)

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Useful For

Second-tier test for confirming a diagnosis of galactosemia (indicated by

enzymatic testing or newborn screening)

 

Carrier testing family members of an affected individual of known genotype

(has mutations included in the panel)

  

Resolution of Duarte variant and Los Angeles variant genotypes

Testing Guides and Forms

• Molecular Genetics - Biochemical Disorders Patient Information Sheet 
• Informed Consent Form for DNA Testing 
• Galactosemia Testing Algorithm 

Method Name

A real-time polymerase chain reaction (PCR)-based 
assay is utilized to examine DNA for six alterations:  
Q188R, S135L, L195P, K285N, N314D (Duarte) and 
L218L (Los Angeles).
(PCR is utilized pursuant to a license agreement with Roche
Molecular Systems, Inc.)
See "Galactosemia Testing Algorithm" in Special Instructions
for additional information.

Reporting Name

Galactosemia Gene Analysis

Ordering Mnemonic

GAL6

Aliases

Galactosemia Gene Analysis

GALT

GALT DNA

Key