- Patient Preparation
- Contact ARUP's genetic counselor at (800) 242-2787, extension 2141, prior to test submission.
- Specimen Preparation
- Storage/Transport Temperature
- Unacceptable Conditions
- A Galactosemia-specific patient history form must be submitted with specimen; available at <http://aruplab.com/genetics/forms.php>
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 andpremature ovarian failure may persist.
Incidence: Approximately 1 in 30,000.
Inheritance: Autosomal recessive
Penetrance: 100% for severe mutations.
Cause:Deleterious galactose-1-phosphate uridyl transferase (GALT) gene mutations.
Clinical sensitivity: 98 percent.
Methodology:Bidirectional sequencingof the entire GALT coding region intron/exon boundaries and partial 5'UTR.
Analytic Sensitivity & Specificity: 99 percent.
Limitations:Deep intronic mutations andlarge deletions/duplications will not be identified; analytical sensitivity may be compromised by rare primer site mutations; galactosemia caused by mutations in other genes will not be detected.
|Component Test Code*||Component Chart Name||LOINC|
|0051177||Galactosemia - Ethnicity|
|0051178||Galactosemia - Symptoms|
|0051179||Galactosemia - Abnormal Newborn Screen|
|0051180||Galactosemia - Family History|
|0051345||Galactosemia (GALT) Sequencing|
|2001350||Galactosemia - Specimen|