Test

Molecular Genetics Fructose-1, 6-bisphosphatase deficiency ( FBP1 ) gene sequencing - NGS

₹52,500 ₹32,999
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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

Molecular Genetics Fructose-1, 6-bisphosphatase deficiency ( FBP1 ) gene sequencing - NGS Examination A Molecular Genetics Fructose-1,6-bisphosphatas... Read more

Test Code

MOG312

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