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JOUBERT SYNDROME GENE PANEL BY NGS, EDTA BLOOD

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 NABL Cap Accredited 
The Joubert Syndrome Gene Panel by NGS examines genes associated with Joubert syndrome, a rare neurodevelopmental disorder characterized by delayed motor skills, abnormal breathing patterns, and a distinctive brainstem malformation. Using an EDTA blood sample, this test detects mutations affecting ciliary function and neural development. Metropolis Healthcare applies advanced next-generation sequencing to provide accurate and comprehensive genetic profiling. The results support early diagnosis, clinical management, and family counseling for affected individuals

  • 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:G0213

Frequently Asked Questions (FAQ's):

What does the Joubert Syndrome Gene Panel include at Metropolis Healthcare?
It analyzes a broad range of genes related to ciliary structure and function using high-precision next-generation sequencing.

How does Metropolis Healthcare perform this test?
Metropolis Healthcare extracts DNA from an EDTA blood sample and sequences targeted genes to identify mutations linked to Joubert syndrome.

Who should consider taking this test at Metropolis Healthcare?
Patients with developmental delays, hypotonia, abnormal breathing episodes, or MRI findings suggestive of Joubert syndrome may benefit from this panel.

What sample is required for this test at Metropolis Healthcare?
A standard EDTA blood sample is sufficient for reliable DNA extraction and sequencing.

How long does Metropolis Healthcare take to provide results?
Results are typically available within a standard genetic testing timeframe following detailed sequencing and expert interpretation.

Why choose Metropolis Healthcare for Joubert syndrome testing?
Metropolis Healthcare offers comprehensive gene coverage, advanced sequencing accuracy, and clinically actionable insights.

Does Metropolis Healthcare provide post-test support?
Yes, the report includes expert guidance to help clinicians plan appropriate management and family risk assessment.

Is this test suitable for children at Metropolis Healthcare?

Yes, the panel is appropriate for infants, children, and adults with suspected Joubert syndrome 

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