PALLISTER HALL SYNDROME (GLI3) GENE PANEL BY NGS, EDTA BLOOD

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The Pallister Hall Syndrome (GLI3) Gene Panel by NGS is a targeted genetic test designed to detect mutations in the GLI3 gene associated with Pallister Hall Syndrome, a rare developmental disorder affecting multiple organs. This condition may present with features such as polydactyly, hypothalamic hamartoma, breathing difficulties, hormonal imbalance, and genital abnormalities. Metropolis Healthcare performs high-accuracy Next-Generation Sequencing on EDTA blood samples to identify clinically significant genetic variants. This test is recommended for individuals with suspected congenital malformation syndromes or a family history of Pallister Hall Syndrome. Early diagnosis supports multidisciplinary medical care, prognosis evaluation, and family counseling

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Price: Rs. 17,850.00

Sample Type: EDTA BLOOD

Fasting Not Required


Notes: G0133

Frequently Asked Questions (FAQ's):

What does the GLI3 Gene Panel for Pallister Hall Syndrome include at Metropolis Healthcare?
It includes targeted sequencing of the GLI3 gene to detect pathogenic mutations associated with developmental abnormalities and syndromic presentations.

How does Metropolis Healthcare perform this genetic test?
Metropolis Healthcare uses advanced NGS platforms and expert variant interpretation for accurate detection from an EDTA blood sample.

Who should consider taking this test at Metropolis Healthcare?
Patients with congenital anomalies such as extra fingers or toes, hypothalamic tumors, or family history of GLI3-related disorders should undergo testing.

What sample is required for this test at Metropolis Healthcare?
An EDTA blood sample is required for DNA extraction and sequencing.

How long does Metropolis Healthcare take to provide results?
Reports are typically available within several working days depending on sequencing depth and analysis requirements.

Can this test help in clinical management and treatment planning?
Yes, Metropolis Healthcare provides detailed mutation analysis that supports multidisciplinary treatment decisions and long-term monitoring.

Does Metropolis Healthcare offer genetic counseling for this condition?
Yes, professional counseling is available to help families understand genetic findings and discuss associated risks.

Is fasting needed before giving the sample at Metropolis Healthcare?
No fasting is required for EDTA blood sample collection 

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