Galactosemia (GALT), Sequencing

Background Information for Galactosemia (GALT), Sequencing:
Characteristics: Vomiting, diarrhea, feeding problems, failure to thrive, hepatocellular damage, bleeding, sepsis, mental retardation, and neonatal death. If treated early, most symptoms resolve, although speech, motor problems, developmental delay and premature ovarian failure may persist.
Incidence: Approximately 1 in 30,000.
Inheritance: Autosomal recessive
Penetrance: 100 percent for severe mutations.
Cause: Pathogenic galactose-1-phosphate uridyl transferase (GALT) gene mutations.
Clinical sensitivity: 98 percent.
Methodology:  Bidirectional sequencing of the entire GALT coding region, intron/exon boundaries and partial 5'UTR.
Analytic Sensitivity & Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected. Mutations in genes other than GALT are not evaluated.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.