Molecular Genetics Pontocerebellar hypoplasia gene panel-NGS
Also Known As
PCH Gene Panel, Pontocerebellar Hypoplasia NGS Panel, SMACT1 TSEN2 TSEN54 Gene Panel, PCH Molecular Diagnosis, Hereditary Cerebellar Atrophy Panel, PC... Read more
Test Parameters Included
NGS-based sequencing of PCH-associated genes (SMACT1, TSEN2, TSEN34, TSEN54, RARS2, DDX58, DYNC1H1, EXOSC3, EXOSC2, EXOSC8, EXOSC9, EXOSC10, EXOSC11, ... Read more
Department
MOLECULAR GENETICS
Methodology
NGS
Sample Required
WB EDTA
Preparation
No, a fasting state is not typically required for a Molecular Genetics Pontocerebellar Hypoplasia gene panel-NGS test, as it is performed on a blood s... Read more
Schedule Report
28 Days
Emergency Report
Yes
Frequently Asked Questions
What is Pontocerebellar Hypoplasia (PCH)?PCH is a rare genetic neurodegenerative disorder characterized by progressive atrophy of the cerebellum and s... Read more
Test Description
Test Code
MOG358
- High-end laboratory & medical equipment.
- Outstanding doctor team.
- Personalized care & high-quality service.
- Tailormade health screening packages.