Molecular Genetics Acute intermittent porphyria - HMBS gene analysis-NGS
Also Known As
HMBS Gene NGS Analysis, Acute Intermittent Porphyria Genetic Test, PBGD Gene Sequencing, Porphobilinogen Deaminase Gene Analysis, AIP Molecular Diagno... Read more
Test Parameters Included
HMBS Gene Sequence Variants Detected by NGS (c. and p. nomenclature)Pathologist Clinical Genetics Remark - pathogenicity classification per ACMG guide... Read more
Department
MOLECULAR GENETICS
Methodology
NGS
Sample Required
WB EDTA
Preparation
For a molecular genetics test to diagnose Acute Intermittent Porphyria (AIP) by analyzing the HMBS gene using Next-Generation Sequencing (NGS), fastin... Read more
Schedule Report
28 Days
Emergency Report
Yes
Frequently Asked Questions
What is Acute Intermittent Porphyria (AIP)?AIP is a rare autosomal dominant disorder caused by deficiency of porphobilinogen deaminase (PBGD), the enz... Read more
Test Description
Test Code
MOG226
- High-end laboratory & medical equipment.
- Outstanding doctor team.
- Personalized care & high-quality service.
- Tailormade health screening packages.