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).

Methodology

Polymerase Chain Reaction (PCR)/Single Nucleotide Extensions

Performed

Varies

Reported

7-10 days

New York DOH Approval Status

This test is New York DOH approved.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA), pink (K2EDTA), or green (sodium heparin).

Specimen Preparation

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

Storage/Transport Temperature

Refrigerated. Also acceptable: Ambient.

Unacceptable Conditions
Remarks
Stability

Room temperature: 1 week; Refrigerated: 1 month; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

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

Hotline History

N/A

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