Short Description

NGS genetic DNA test detecets for variant and mutation detection in ITPR1 gene for Gillespie syndrome

PreTest Information

Clinical History of Patient who is going for ITPR1 Gene Gillespie syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ITPR1 Gene Gillespie syndrome

Detail Description

DNA Labs India: ITPR1 Gene Gillespie Syndrome NGS Genetic DNA Test Cost INR 20,000

Gillespie syndrome is a rare genetic disorder that affects the eyes, nervous system, and endocrine system. The disorder is caused by a mutation in the ITPR1 gene. DNA Labs India offers a Next-Generation Sequencing (NGS) Genetic DNA Test for ITPR1 Gene Gillespie Syndrome at a cost of INR 20,000.

Symptoms of Gillespie Syndrome

The symptoms of Gillespie syndrome can vary widely from person to person. Some common symptoms include:

• Delayed motor development
• Ataxia (lack of coordination of voluntary muscle movements)
• Intellectual disability
• Nystagmus (involuntary eye movements)
• Cerebellar atrophy (shrinkage of the cerebellum, a part of the brain that controls movement and coordination)
• Hypogonadism (reduced or absent sex hormone production)
• Delayed puberty
• Hypothyroidism (underactive thyroid gland)

Diagnosis of Gillespie Syndrome

The diagnosis of Gillespie syndrome can be confirmed through genetic testing. DNA Labs India offers a Next-Generation Sequencing (NGS) Genetic DNA Test for the ITPR1 gene, which is associated with Gillespie syndrome.

NGS is a high-throughput DNA sequencing technology that can sequence millions of DNA fragments simultaneously. This allows for the detection of genetic mutations that may cause Gillespie syndrome.

Cost of the ITPR1 Gene Gillespie Syndrome NGS Genetic DNA Test

The cost of the ITPR1 Gene Gillespie Syndrome NGS Genetic DNA Test at DNA Labs India is INR 20,000.

This includes:

• Sample collection kit
• DNA extraction and purification
• NGS sequencing of the ITPR1 gene
• Analysis and interpretation of the sequencing data
• A detailed report of the test results

Conclusion

Gillespie syndrome is a rare genetic disorder that can cause a wide range of symptoms. The disorder is caused by a mutation in the ITPR1 gene. DNA Labs India offers a Next-Generation Sequencing (NGS) Genetic DNA Test for the ITPR1 gene, which can confirm a diagnosis of Gillespie syndrome. The cost of the test is INR 20,000 and includes a detailed report of the test results.

If you suspect that you or a loved one may have Gillespie syndrome, it is important to seek medical advice and consider genetic testing to confirm a diagnosis.

For more information on the ITPR1 Gene Gillespie Syndrome NGS Genetic DNA Test, please contact DNA Labs India.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for ITPR1 Gene Gillespie syndrome NGS Genetic DNA Test