FGFR3 G380R MUTATION DETECTION, EDTA BLOOD

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NABL Cap Accredited    
The FGFR3 G380R Mutation Detection test identifies the specific genetic variant in the FGFR3 gene commonly associated with achondroplasia, a form of skeletal dysplasia. Metropolis Healthcare performs this test using advanced molecular techniques to ensure precise mutation detection. It helps clinicians confirm a diagnosis in patients with characteristic short stature or skeletal abnormalities. Early genetic identification aids in clinical management, counseling, and family planning decisions

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Price: Rs. 21,000.00

Sample Type: EDTA Blood

Fasting Not Required


Notes: G0087

Frequently Asked Questions (FAQ's):

What does the FGFR3 G380R Mutation Detection test detect?
It identifies the G380R mutation in the FGFR3 gene linked to achondroplasia.

Who should take this test?
Patients with clinical signs of disproportionate short stature or suspected skeletal dysplasia.

What sample is required?
EDTA blood is used for molecular genetic analysis.

How does Metropolis Healthcare perform this test?
Metropolis uses sensitive molecular techniques to accurately detect the FGFR3 mutation.

Can this test confirm achondroplasia?
Yes, detecting the G380R mutation confirms the genetic cause of achondroplasia.

Is genetic counseling recommended?
Yes, results provide valuable information for family planning and carrier risk assessment.

How long are results available from Metropolis Healthcare?
Reports are usually provided within a few weeks after sample processing.

Why is early detection important?
It enables timely clinical management, monitoring, and guidance for affected individuals and their families.

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