Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC26A4 gene for Pendred syndrome

PreTest Information

Clinical History of Patient who is going for SLC52A2 Gene Brown-Vialetto-Van Laere syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC52A2 Gene Brown-Vialetto-Van Laere syndrome type 2 NGS Genetic DNA Test gene SLC52A16

Detail Description

SLC26A4 Gene Pendred Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Pendred Syndrome is a rare genetic disorder that affects the thyroid gland and inner ear. It is caused by mutations in the SLC26A4 gene, which encodes for a protein called pendrin. Pendrin plays a crucial role in the transportation of ions such as chloride, iodine, and bicarbonate in the thyroid gland and inner ear.

The prevalence of Pendred Syndrome is estimated to be between 1 in 5000 to 1 in 10,000 individuals worldwide. The disorder is usually diagnosed in childhood or early adolescence, but in some cases, it may not become apparent until adulthood.

Symptoms of Pendred Syndrome

The symptoms of Pendred Syndrome can vary widely among individuals. Some common symptoms include:

• Hearing loss
• Enlarged thyroid gland (goiter)
• Abnormal thyroid function tests
• Tinnitus (ringing in the ears)
• Dizziness or vertigo
• Mild to moderate balance problems

Diagnosis of Pendred Syndrome

Diagnosis of Pendred Syndrome usually involves a combination of clinical evaluation, imaging studies, and genetic testing. The following tests may be used to diagnose Pendred Syndrome:

• Hearing tests
• Thyroid function tests
• Ultrasound of the thyroid gland
• Magnetic resonance imaging (MRI) of the inner ear
• Genetic testing to detect mutations in the SLC26A4 gene

NGS Genetic DNA Test for Pendred Syndrome

Next-generation sequencing (NGS) is a high-throughput DNA sequencing technology that can analyze multiple genes simultaneously. NGS genetic testing can detect mutations in the SLC26A4 gene, which is responsible for Pendred Syndrome.

The cost of the NGS genetic DNA test for Pendred Syndrome in India is around INR 20,000. The test involves a simple blood or saliva sample collection, which is then sent to a laboratory for analysis. The results of the test can help diagnose Pendred Syndrome and guide the management of the disorder.

Conclusion

Pendred Syndrome is a rare genetic disorder that affects the thyroid gland and inner ear. The disorder is caused by mutations in the SLC26A4 gene, which encodes for a protein called pendrin. The symptoms of Pendred Syndrome can vary widely among individuals and can include hearing loss, goiter, abnormal thyroid function tests, tinnitus, dizziness, and balance problems. Diagnosis of Pendred Syndrome usually involves a combination of clinical evaluation, imaging studies, and genetic testing. NGS genetic testing can detect mutations in the SLC26A4 gene and is an effective tool for the diagnosis of Pendred Syndrome. The cost of the NGS genetic DNA test for Pendred Syndrome in India is around INR 20,000.

If you suspect that you or someone you know may have Pendred Syndrome, it is important to consult a healthcare professional for further evaluation and management.

Contact DNA Labs India to book your NGS genetic DNA test for Pendred Syndrome today.

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 SLC26A4 Gene Pendred syndrome NGS Genetic DNA Test