Ordering Recommendation

Molecular (DNA) test to identify the causative mutations when GALT enzyme activity is known. To diagnose or rule out galactosemia, refer to Galactosemia (GALT) Enzyme Activity and 9 Mutations (0051175).

New York DOH Approval Status

This test is New York state approved.

Submit With Order

Specimen Required

Patient Preparation
Collect

Lavender (EDTA) or pink (K2EDTA)

Specimen Preparation

Transport 2 mL whole blood (Min: 1 mL).

Storage/Transport Temperature

Refrigerated. Also acceptable: Room temperature.

Unacceptable Conditions
Remarks
Stability

Ambient: 1 week; Refrigerated: 1 month; Frozen: Unacceptable

Methodology

Polymerase Chain Reaction (PCR)/Single Nucleotide Extensions

Performed

Varies

Reported

7-10 days

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

Note

This test is offered to individuals with known familial mutation(s).

Hotline History

CPT Codes

81401

Components

Component Test Code* Component Chart Name LOINC
0051177 Galactosemia - Ethnicity 42784-9
0051178 Galactosemia - Symptoms
0051180 Galactosemia - Family History 8670-2
0051182 Galactosemia (GALT) Allele 1 42940-7
0051183 Galactosemia (GALT) Allele 2 42941-5
0051184 Galactosemia (GALT) DNA Panel Interp 50398-7
2001351 Galactosemia (GALT) DNA Panel Specimen 66746-9
* 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

  • Galactosemia Carrier Testing
  • Galactosemia Confirmation Test
  • Galactosemia genotyping
  • GALT DNA
Galactosemia, (GALT) 9 Mutations