METACHROMATIC LEUKODYSTROPHY GENE PANEL BY NGS, EDTA BLOOD

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NABL Cap Accredited      
This genetic panel identifies mutations associated with Metachromatic Leukodystrophy (MLD), a rare inherited lysosomal storage disorder causing progressive damage to the central and peripheral nervous system. MLD is commonly related to ARSA gene mutations, leading to severe neurological decline, movement difficulties, and cognitive impairment. Early genetic diagnosis is crucial for timely intervention, supportive therapy, and family counseling. Metropolis Healthcare performs this comprehensive analysis using advanced Next-Generation Sequencing (NGS) on EDTA blood to ensure accurate and clinically useful results

  • 17 Crores+ Samples Processed
  • World Class Technology Labs
  • 25+ Years of Trust & Experience
  • Free Home Collection

Price: Rs. 21,000.00

Sample Type: EDTA BLOOD

Fasting Not Required


Notes: M0108

Frequently Asked Questions (FAQ's):

What does the Metachromatic Leukodystrophy Gene Panel test include?
This test analyzes key genes, including ARSA, associated with Metachromatic Leukodystrophy to detect pathogenic variants.

How does Metropolis Healthcare perform this test?
Metropolis Healthcare uses high-depth Next-Generation Sequencing technology along with expert variant interpretation for reliable reporting.

Who should take this test?
Individuals with symptoms such as developmental regression, muscle weakness, loss of motor skills, or family history of leukodystrophy should consider testing.

What sample type is required?
EDTA whole blood is required for DNA extraction and sequencing.

Is fasting required for this test?
No fasting is necessary for this genetic test.

How can results from Metropolis Healthcare support diagnosis?
Results help confirm disease type, assess severity, guide treatment planning, and support genetic counseling for families.

Can this test detect carriers?
Yes, the panel can identify carrier status in parents and siblings for inheritance risk assessment.

Does Metropolis Healthcare provide follow-up support?
Yes, Metropolis Healthcare offers genetic counseling and recommendations for relevant confirmatory or supportive tests when needed

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