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PONTOCEREBELLAR HYPOPLASIA GENE PANEL BY NGS, EDTA BLOOD

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NABL Cap Accredited 

The Pontocerebellar Hypoplasia Gene Panel by NGS is a specialized genetic test designed to detect mutations associated with various subtypes of pontocerebellar hypoplasia, a group of rare neurodevelopmental disorders. Metropolis Healthcare uses advanced Next-Generation Sequencing (NGS) to analyze multiple genes involved in brain development and neuronal function. This test supports early and accurate diagnosis in individuals with severe developmental delays, movement disorders, or structural brain abnormalities. It also aids clinicians and families by providing clarity on prognosis and inheritance risks. 

  • 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


Booking Procedure:
  1. Technician from Metropolis will be assigned for a home sample collection after booking confirmation.
  2. Sample will be collected by our technician at your address at given slot.
  3. You can make the payment to the technician at the time of collection
  4. Your sample will then be transported to the nearest collection center and will be centrifuged before sending to the lab for processing.
  5. Soft copy reports will be sent to your email address within 24 to 48 hours or as per defined TAT for Tests.

Frequently Asked Questions (FAQ's):

What does the Pontocerebellar Hypoplasia Gene Panel include?
It includes comprehensive sequencing by Metropolis Healthcare to identify mutations linked to different forms of pontocerebellar hypoplasia.

How does Metropolis Healthcare perform this test?
Metropolis Healthcare uses high-precision NGS to analyze multiple neurodevelopmental genes from an EDTA blood sample.

Who should take this test?
Infants or children with severe developmental delays, microcephaly, feeding difficulties, or MRI findings suggestive of PCH may benefit.

Can this test confirm the subtype of pontocerebellar hypoplasia?
Yes, identifying specific gene mutations helps classify the PCH subtype and guide prognosis.

What sample is required for this test?
An EDTA blood sample is used for detailed DNA extraction and gene sequencing.

Is this test useful for family counseling?
Yes, it supports understanding of inheritance patterns and recurrence risks for future pregnancies.

How long does Metropolis Healthcare take to provide results?
Results typically take a few weeks due to extensive sequencing and expert interpretation.

Does this test help in management or treatment planning?

While treatment is supportive, genetic confirmation helps clinicians tailor care, anticipate complications, and plan long-term monitoring 

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