Molecular Genetics Alkaptonuria ( HGD ) gene analysis - NGS
Also Known As
HGD Gene Sequencing, Alkaptonuria Genetic Test, Homogentisate Dioxygenase Gene Analysis, Ochronosis Gene Test, PKU Related Gene Panel, Alkaptonuria NG... Read more
Test Parameters Included
HGD Gene (Homogentisate 1,2-Dioxygenase) Sequence Analysis by NGS - detection of pathogenic variants including missense, nonsense, splice-site, and sm... Read more
Department
MOLECULAR GENETICS
Methodology
NGS
Sample Required
WB EDTA
Preparation
For a molecular genetics test analyzing the HGD gene to diagnose Alkaptonuria (black urine disease) using NGS (Next Generation Sequencing), fasting is... Read more
Schedule Report
28 Days
Emergency Report
Yes
Frequently Asked Questions
What is alkaptonuria and why is HGD gene testing done?Alkaptonuria is a rare autosomal recessive disorder caused by mutations in the HGD gene, leading... Read more
Test Description
Test Code
MOG376
- High-end laboratory & medical equipment.
- Outstanding doctor team.
- Personalized care & high-quality service.
- Tailormade health screening packages.