Galactosemia Type I (Classic and Variant Galactosemia) via the GALT Gene, 5.5 kb Common Deletion
Use
This test is intended for individuals with a high clinical suspicion of autosomal recessive disease caused by mutations in the GALT gene, particularly when previous genetic testing was inconclusive or detected a single variant. It can also be used for family members of patients who have tested positive for specific deletions, duplications, or inversions in the GALT gene. Diagnosing classic and variant galactosemia is crucial for the management of affected individuals, including dietary modifications that can prevent severe complications such as intellectual disability and liver damage.
Special Instructions
Not provided.
Limitations
The test specifically targets known deletions, duplications, and inversions in the GALT gene, and may not detect all possible mutations. Negative results do not exclude all forms of galactosemia or other metabolic disorders. Genetic testing should be interpreted in the context of biochemical testing and clinical findings for accurate diagnosis.
Methodology
PCR-based (PCR)
Biomarkers
No genes
Gene
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided