Molecular Genetics Johanson-Blizzard Syndrome ( UBR1 ) Gene Analysis - NGS
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
Test Code
MOG446
- High-end laboratory & medical equipment.
- Outstanding doctor team.
- Personalized care & high-quality service.
- Tailormade health screening packages.