RETT SYNDROME MECP2 DETECTION, EDTA BLOOD

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This test detects mutations in the MECP2 gene, which are associated with Rett syndrome—a neurodevelopmental disorder primarily affecting females. Using EDTA blood, Metropolis Healthcare performs advanced genetic analysis to identify pathogenic variants with high accuracy. The results help confirm clinical diagnosis, guide prognosis, and support early intervention planning. This testing is especially valuable for children showing developmental regression, loss of motor skills, or characteristic Rett features

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Price: Rs. 8,560.00

Sample Type: EDTA Blood

Fasting Not Required


Notes: R0018

Frequently Asked Questions (FAQ's):

What does the MECP2 detection test look for?
It identifies mutations in the MECP2 gene that are linked to Rett syndrome.

How does Metropolis Healthcare perform this test?
Metropolis Healthcare uses high-precision molecular techniques to analyze the MECP2 gene from an EDTA blood sample.

Who should undergo this test?
Children, especially girls, who show developmental regression or features suggestive of Rett syndrome should be evaluated.

Is genetic counseling recommended?
Yes, genetic counseling helps families understand results, inheritance patterns, and future planning.

How long does the testing process take?
Turnaround times vary, but Metropolis Healthcare typically provides results within a clinically appropriate timeframe.

Can this test detect all forms of Rett syndrome?
It detects the majority of MECP2 mutations, though some rare variants may require additional testing.

Does a positive result confirm Rett syndrome?
A positive mutation strongly supports the diagnosis but must be interpreted along with clinical findings

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