Classical galactosemia is the most common disorder of galactose metabolism. Symptoms appear in the neonatal period after ingestion of galactose and include vomiting, diarrhea, failure to thrive, lethargy, hypotonia, jaundice, hepatomegaly, septicemia, cataracts and bleeding tendencies. If a galactose-restricted diet is initiated rapidly, the neonatal symptoms resolve and the complications of liver failure, sepsis, neonatal death and mental retardation can be prevented. Despite adequate galactose restriction from an early age children with galactosemia are at risk for ataxia, verbal apraxia, delayed speech and developmental delay. Females with galactosemia are at risk for premature ovarian failure.

Tests Available

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies


4-5 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.


81406x1, 81479x1
  • 796.6 Abnormal findings on neonatal screening
  • 271.1 Galactosemia, Galactose-1-phosphate uridyl transferase deficiency, Galactosuria
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**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.


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  2. Elsas, L. (Updated [September 27, 2007]). Galactosemia
  3. Kozak et al., (1999) Hum Mutat 15 :206
  4. Barbouth et al., (2006) Genet Med 8:176-182
  5. Bosch et al., (2005) Hum Mutat 25 :502