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0051176
Galactosemia, (GALT) 9 Mutations
GALTDNA
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.
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
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
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
