Test

Molecular Genetics Johanson-Blizzard Syndrome ( UBR1 ) Gene Analysis - NGS

₹52,500 ₹32,999
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Also Known As

Johanson-Blizzard Syndrome, JB Syndrome, UBR1-Related Disorder, Pancreatic Insufficiency with Deafness, Nasal Alar Hypoplasia Syndrome

Test Parameters Included

UBR1 Gene Sequence Analysis (NGS) - detection of pathogenic variants in Johanson-Blizzard Syndrome genePathologist Molecular Genetics Remark - correla... Read more

Department

MOLECULAR GENETICS

Methodology

NGS

Sample Required

WB EDTA

Preparation

No, fasting is not required before a molecular genetics NGS test, as it is a blood test analyzing DNA which is not affected by recent food intake; you... Read more

Schedule Report

28 Days

Emergency Report

Yes

Frequently Asked Questions

What is Johanson-Blizzard Syndrome?It is a rare autosomal recessive genetic disorder caused by mutations in the UBR1 gene, characterized by exocrine p... Read more

Test Description

Molecular Genetics Johanson-Blizzard Syndrome ( UBR1 ) Gene Analysis - NGS Examination A Johanson-Blizzard syndrome (UBR1) gene analysis-NGS test refe... Read more

Test Code

MOG446

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