Galactosemia (GALT) 9 Mutations, Fetal
Also known as: GALTDNA FE
Use
Diagnosing classic galactosemia in fetuses, which is a genetic disorder caused by mutations in the GALT gene. Affected infants typically present symptoms shortly after birth, such as poor feeding, vomiting, diarrhea, jaundice, and lethargy. The disorder can lead to serious complications, including liver failure and increased risk of infections if untreated. The test specifically targets seven common pathogenic GALT mutations and two additional variants, helping to establish or rule out the diagnosis in prenatal samples.
Special Instructions
Not provided.
Limitations
This test only detects mutations in the GALT gene that are among the nine targeted. Mutations outside this set will not be detected. Diagnostic errors can occur due to rare sequence variations. It is also not FDA-cleared or approved but developed as a laboratory-developed test (LDT). The clinical sensitivity is reduced in populations other than Caucasians due to genetic diversity.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 59266-7 - Maternal Cell Contam Spec
- 66746-9 - Specimen type
- 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
- 31208-2 - Specimen source
Result Turnaround Time
5-7 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
Not provided
Minimum Volume
1 T-25 flask at 80 percent confluence
Container
T-25 flasks
Collection Instructions
Transfer cultured amniocytes or cultured CVS to T-25 flasks at 80 percent confluence.
Storage Instructions
Must be received within 48 hours of collection due to cell viability. Keep at room temperature.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 2 days |
| Refrigerated | Unacceptable |
| Frozen | Unacceptable |
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