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
This test requires a healthcare provider's order and can be performed through various specimen types including blood, buccal swabs, saliva, or tissue samples. PreventionGenetics offers the possibility of STAT testing, adding a surcharge for expedited service. For institutional pricing, users need to sign in on the myPrevent portal. Additional testing options are available post-analysis for further diagnoses or familial testing.
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
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