GALT Deletion/Duplication

Mutations in the GALT gene encoding Galactose-1-phosphate uridylyl transferase are the most common cause of galactosemia, an autosomal recessive inborn error of metabolism. The cardinal features of classic galactosemia are hepatomegaly, cataracts, and mental retardation. Failure to thrive is the most common initial clinical symptom of galactosemia. Children with galactosemia require a special diet.

Most cases of galactosemia are caused by sequence variants; however, occasionally there are deletions involving all or part of the GALT gene. This laboratory performs both Sanger sequencing of the GALT gene and deletion/duplication by MLPA.

Forms & Docs

Ordering

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Test Code
C0046

Turn Around Time
2-3 weeks

Billing

CPT Code
81479×1

Ordering Guidance

Most cases are due to sequence variants. Therefore, sequencing should be ordered first. If sequencing is unrevealing, then deletion/duplication analysis may be considered.

If there are questions regarding this test, please contact Client Services at 617-553-5880 or clientservices@claritasgenomics.com

Details

Genes Covered
GALT

Methods
MLPA