Achondroplasia Targeted Mutation Analysis

Achondroplasia Targeted Mutation Analysis

Non-returnable
Rs.4,000.00
Achondroplasia is the most common type of short-limbed dwarfism.

Targeted mutation analysis of the FGFR3 gene for c.1138GtoA & c.1138GtoC will confirm the molecular diagnosis of about 99% of achondroplasia cases.
Sample Type
2 ml of EDTA blood
Turnaround Time (days)
10 days
Genes
FGFR3 - c.1138GtoA - c.1138GtoC
Disorders
Achondroplasia
Choose Quantity
+ Add to Cart
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
Added to cart
- There was an error adding to cart. Please try again.
Quantity updated
- An error occurred. Please try again later.
Deleted from cart
- Can't delete this product from the cart at the moment. Please try again later.