
Achondroplasia Targeted Mutation Analysis
Non-returnable
Rs.4,000.00
Achondroplasia is the most common type of short-limbed dwarfism.
Sample Type
2 ml of EDTA blood Turnaround Time (days)
10 days Genes
FGFR3 - c.1138GtoA - c.1138GtoC Disorders
Achondroplasia Choose Quantity
Product Details
- About 80% of the cases occur as a result of a de novo mutation in the FGFR3 gene.
- Inherited in an autosomal dominant manner, meaning only one mutated copy of the gene is required for the condition to occur.
- Little People of America is a good online resource for patients with achondroplasia