Price:
Rs. 21,000.00
Sample Type: EDTA BLOOD
Fasting Not Required
Notes:G0241
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