Molecular Genetics Pseudohypoparathyroidism Ia (GNAS) gene sequencing - NGS
Also Known As
GNAS Gene Sequencing, Pseudohypoparathyroidism Type 1a Genetic Test, PHP1a Molecular Analysis, GNAS Imprinting Disorder Panel, Pseudopseudohypoparathy... Read more
Test Parameters Included
GNAS gene sequence analysis — identification of pathogenic variants (missense, nonsense, frameshift, splice-site mutations) in exonic and flanking int... Read more
Department
MOLECULAR GENETICS
Methodology
NGS
Sample Required
WB EDTA
Preparation
No fasting requiredNo special preparation needed; avoid biotin supplementation 48 hours before sample collectionSample: 2–3 mL whole blood in EDTA (pu... Read more
Schedule Report
28 Days
Emergency Report
Yes
Frequently Asked Questions
What is Pseudohypoparathyroidism Type 1a (PHP1a)?PHP1a is a rare genetic disorder caused by mutations in the GNAS gene, leading to resistance to parat... Read more
Test Description
Test Code
MOG241
- High-end laboratory & medical equipment.
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