Molecular Genetics Fructose-1, 6-bisphosphatase deficiency ( FBP1 ) gene sequencing - NGS
Also Known As
FBP1 Gene Sequencing, Fructose-1,6-Bisphosphatase Deficiency Genetic Test, FBP1 Mutation Analysis, Hereditary Fructose Intolerance Type II Genetic Tes... Read more
Test Parameters Included
FBP1 Gene Sequence Analysis - detection of pathogenic variants (missense, nonsense, frameshift, splice-site mutations)Pathologist Molecular Genetics R... Read more
Department
MOLECULAR GENETICS
Methodology
NGS
Sample Required
WB EDTA
Preparation
For a molecular genetics test to diagnose Fructose-1,6-bisphosphatase deficiency (FBP1) gene sequencing using Next-Generation Sequencing (NGS), fastin... Read more
Schedule Report
28 Days
Emergency Report
Yes
Frequently Asked Questions
What is fructose-1,6-bisphosphatase deficiency?It is a rare autosomal recessive metabolic disorder caused by mutations in the FBP1 gene, leading to im... Read more
Test Description
Test Code
MOG312
- High-end laboratory & medical equipment.
- Outstanding doctor team.
- Personalized care & high-quality service.
- Tailormade health screening packages.