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).

Mnemonic

GALT NGS

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

3 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

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

Refrigerated.

Unacceptable Conditions

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

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report.   

Compliance Category

Laboratory Developed Test (LDT)

Note

Gene Tested: GALT (NM_000155)

Hotline History

N/A

CPT Codes

81406; 81479

Components

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.

Aliases

  • 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