Galactosemia (GALT) Enzyme Activity and 9 Mutations
Also known as: GALTPAN
Use
This test is used as an initial diagnostic tool for classic galactosemia as well as to perform carrier testing for this condition. Galactosemia is a genetic disorder that affects the body's ability to process the sugar galactose properly. Affected infants typically exhibit symptoms within the first two weeks of life, which may include poor feeding, vomiting, diarrhea, jaundice, and lethargy. Early diagnosis and treatment are critical to preventing serious complications such as liver damage and sepsis.
Special Instructions
Not provided.
Limitations
The test targets seven GALT gene mutations and two variants. It will not detect other GALT mutations or sequence variations outside of the targeted set. Diagnostic accuracy can be affected by rare sequence variations not accounted for by this test. Performance characteristics were determined by ARUP Laboratories and it has not been cleared or approved by the FDA.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 31208-2 - Specimen source
- 42784-9 - Ethnic Background Stated
- 46737-3 - Galactosemias DBS-Imp
- 8670-2 - Family member diseases Hx
- 42940-7 - GALT allele 1 Bld Ql
- 42941-5 - GALT allele 2 Bld Ql
- 62365-2 - Diagnostic imp Spec-Imp
- 24082-0 - Gal1PUT RBC-cCnt
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 mL
Minimum Volume
1 mL
Container
Lavender (EDTA) or pink (K2EDTA)
Storage Instructions
Transport refrigerated.
Causes for Rejection
Frozen or room temperature specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Unacceptable |
| Refrigerated | 5 days |
| Frozen | Unacceptable |
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