Ordering Recommendation

Use to detect pathogenic GALT gene variant(s) in individuals with decreased GALT enzyme activity to confirm carrier status or diagnosis of galactosemia. The preferred initial test to diagnose galactosemia or assess carrier status is Galactosemia (GALT) Enzyme Activity and 9 Mutations (0051175).

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation

Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA)

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)
New York State Clients: Transport 3 mL whole blood. (Min. 3 mL)

Storage/Transport Temperature


Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.


Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York State Clients: Ambient: 48 hours; Refrigerated: 2 weeks; Frozen: Unacceptable


Massively Parallel Sequencing




10-15 days

Reference Interval

By report

Interpretive Data

Refer to report.   

Compliance Category

Laboratory Developed Test (LDT)


Gene Tested: GALT (NM_000155)

Hotline History


CPT Codes

81406; 81479


Component Test Code* Component Chart Name LOINC
3004717 GALT Specimen
3004719 GALT Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.


  • classic galactosemia
  • clinical variant galactosemia
  • D/G galactosemia
  • DNA testing for galactose-1-phosphate uridylytranserase (GALT) deficiency
  • Duarte variant galactosemia
Galactosemia (GALT) Sequencing and Deletion/Duplication