Short Description

NGS genetic DNA test detecets for variant and mutation detection in SECISBP2 gene for Thyroid hormone metabolism abnormal

PreTest Information

Clinical History of Patient who is going for SECISBP2 Gene Thyroid hormone metabolism abnormal NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SECISBP2 Gene Thyroid hormone metabolism abnormal NGS Genetic DNA Test gene SECISBP2

Detail Description

Understanding SECISBP2 Gene and Thyroid Hormone Metabolism Abnormalities

Thyroid hormone metabolism abnormalities can lead to a range of health complications. The SECISBP2 gene plays a crucial role in regulating thyroid hormone metabolism. Mutations in this gene can lead to various disorders, including thyroid hormone resistance, goiter, and hypothyroidism.

What is the SECISBP2 Gene?

The SECISBP2 gene encodes a protein that is essential for the proper functioning of the thyroid gland. This protein is involved in the synthesis of selenoproteins, which are necessary for thyroid hormone metabolism. The SECISBP2 protein binds to a specific RNA sequence, called the SECIS element, which is required for the translation of selenoproteins.

Thyroid Hormone Metabolism Abnormalities

Thyroid hormone metabolism abnormalities occur when there is an imbalance in the production and utilization of thyroid hormones. These abnormalities can lead to a range of symptoms, including fatigue, weight gain, depression, and hair loss.

Mutations in the SECISBP2 gene can result in thyroid hormone resistance, which occurs when the thyroid gland produces an adequate amount of hormones, but the body is unable to use them effectively. This can lead to symptoms of hypothyroidism, despite normal thyroid hormone levels in the blood.

Goiter, which is the enlargement of the thyroid gland, can also be caused by mutations in the SECISBP2 gene. This is because the production of selenoproteins is essential for the proper functioning of the thyroid gland.

NGS Genetic DNA Test for SECISBP2 Gene Mutations

A Next-Generation Sequencing (NGS) genetic DNA test can be used to identify mutations in the SECISBP2 gene. This test involves the analysis of DNA samples to detect any abnormalities in the gene sequence. The test can be performed using a blood or saliva sample.

Symptoms and Diagnosis

The symptoms of thyroid hormone metabolism abnormalities can vary depending on the severity of the condition. Some common symptoms include:

• Fatigue
• Weight gain
• Depression
• Hair loss
• Goiter
• Dry skin
• Constipation

If you experience any of these symptoms, it is recommended that you consult a doctor. A physical examination and blood tests can be used to diagnose thyroid hormone abnormalities. If a mutation in the SECISBP2 gene is suspected, an NGS genetic DNA test may be recommended.

Cost of NGS Genetic DNA Test

The cost of an NGS genetic DNA test for SECISBP2 gene mutations can vary depending on the laboratory and location. In India, the cost of this test typically ranges from INR 15,000 to INR 25,000. DNA Labs India offers this test at a competitive price of INR 20,000.

Conclusion

The SECISBP2 gene plays a crucial role in regulating thyroid hormone metabolism. Mutations in this gene can lead to various disorders, including thyroid hormone resistance, goiter, and hypothyroidism. An NGS genetic DNA test can be used to identify mutations in the SECISBP2 gene. If you experience any symptoms of thyroid hormone abnormalities, it is recommended that you consult a doctor and consider genetic testing.

At DNA Labs India, we offer a range of genetic DNA tests to help individuals understand their genetic makeup and identify potential health risks. Contact us today to schedule a consultation.