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0051175
Galactosemia (GALT) Enzyme Activity and 9 Mutations
GALTPAN
Ordering Recommendation
Initial test to diagnose or rule out classic galactosemia. Recommended carrier testing for galactosemia.
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
Do not freeze. Transport 10 mL whole blood. (Min: 3 mL)
Storage/Transport Temperature
Refrigerated.
Unacceptable Conditions
Frozen or room temperature specimens.
Remarks
Stability
Room temperature: Unacceptable; Refrigerated: 5 days; Frozen: Unacceptable
Methodology
Enzymatic Assay/Polymerase Chain Reaction (PCR)/Single Nucleotide Extensions
Performed
Varies
Reported
7-10 days
Reference Interval
By report
Interpretive Data
One U/g Hb is equivalent to one umol/hour/gram of hemoglobin (umol/hr/g Hb).
Refer to report
Compliance Category
Laboratory Developed Test (LDT)
Note
Hotline History
N/A
CPT Codes
82775; 81401
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 0051171 | Galactosemia (GALT) DNA Pan,G1PUT Spec | 31208-2 |
| 0051177 | Galactosemia - Ethnicity | 42784-9 |
| 0051178 | Galactosemia - Symptoms | |
| 0051179 | Galactosemia - Abnormal Newborn Screen | 46737-3 |
| 0051180 | Galactosemia - Family History | 8670-2 |
| 0051182 | Galactosemia (GALT) Allele 1 | 42940-7 |
| 0051183 | Galactosemia (GALT) Allele 2 | 42941-5 |
| 0051187 | Galactosemia (GALT) DNA Pan,G1PUT Interp | 62365-2 |
| 0080125 | Galac-1-Phos Uridyltransferase | 24082-0 |
* 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
- GALT DNA
- Galactosemia Carrier Testing
- Galactosemia Confirmation Test
- Galactosemia genotyping
Galactosemia (GALT) Enzyme Activity and 9 Mutations
