Galactosemia, (GALT) 9 Mutations
Also known as: GALTDNA
Use
This test is used to identify causative mutations in the GALT enzyme, associated with galactosemia. Galactosemia is a genetic disorder affecting infants, characterized by symptoms such as poor feeding, vomiting, diarrhea, jaundice, lethargy, and risk for E. coli or other gram-negative neonatal sepsis. The disorder is diagnosed by measuring GALT enzyme activity and can result in severe outcomes if not detected early.
Special Instructions
Not provided.
Limitations
This test detects only the nine targeted GALT gene mutations and variants: Q188R, S135L, K285N, T138M, L195P, Y209C, IVS2-2 A>G, N314D, and L218L. Mutations in the GALT gene that are not targeted by this test will not be detected. Diagnostic errors could occur due to rare sequence variations. The clinical sensitivity approaches 80 percent for Caucasians but is reduced in other ethnic groups.
New York Approved
Methodology
PCR-based (SNE)
Biomarkers
LOINC Codes
- 42784-9 - Ethnic Background Stated
- 8670-2 - Family member diseases Hx
- 42940-7 - GALT allele 1 Bld Ql
- 42941-5 - GALT allele 2 Bld Ql
- 50398-7 - Narrative diagnostic report-Imp
- 66746-9 - Specimen type
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
Refrigerated. Also acceptable: Room temperature.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 1 week |
| Refrigerated | 1 month |
| Frozen | Unacceptable |
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