MYOTONIC DYSTROPHY TYPE 2 (3Q 21) BY PCR, EDTA BLOOD

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This test detects genetic mutations associated with Myotonic Dystrophy Type 2 (DM2), a multisystemic neuromuscular disorder caused by a CNBP gene expansion on chromosome 3q21. DM2 symptoms may include progressive muscle weakness, myotonia, fatigue, cataracts, and cardiac abnormalities. Early genetic confirmation helps guide clinical management, rehabilitation planning, and family screening. Metropolis Healthcare performs this test using advanced PCR technology on EDTA blood, ensuring reliable and accurate mutation detection

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Price: Rs. 9,450.00

Sample Type: EDTA BLOOD

Fasting Not Required


Notes: M8027

Frequently Asked Questions (FAQ's):

What is Myotonic Dystrophy Type 2?
Myotonic Dystrophy Type 2 is a hereditary muscle disorder characterized by muscle stiffness, pain, weakness, and involvement of multiple organ systems.

What does this test detect?
The test identifies pathogenic expansions in the CNBP gene located at chromosome 3q21 responsible for DM2.

How does Metropolis Healthcare perform this test?
Metropolis Healthcare uses high-quality PCR and advanced molecular analysis to detect gene mutations accurately.

Who should take this test?
Individuals with symptoms such as muscle stiffness, exercise intolerance, early-onset cataracts, or a family history of muscular dystrophy may benefit from testing.

What sample type is required for this test?
EDTA whole blood is required for molecular DNA extraction.

Is fasting required before the test?
No, fasting is not needed for this test.

How long does Metropolis Healthcare take to deliver results?
Turnaround time may vary based on complexity, but Metropolis Healthcare provides a structured reporting schedule for timely results.

Can this test help with family planning and genetic counseling?
Yes, results are valuable for hereditary risk assessment and are often used alongside genetic counseling support

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