Short Description

NGS genetic DNA test detecets for variant and mutation detection in TSHR gene for Hypothyroidism congenital nongoitrous type 1

PreTest Information

Clinical History of Patient who is going for TSHR Gene Hypothyroidism congenital nongoitrous type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TSHR Gene Hypothyroidism congenital nongoitrous type 1 NGS Genetic DNA Test gene TSHR

Detail Description

TSHR Gene Hypothyroidism Congenital Nongoitrous Type 1 NGS Genetic DNA Test

Hypothyroidism is a condition where the thyroid gland doesn't produce enough thyroid hormones. Congenital nongoitrous hypothyroidism is a type of hypothyroidism that is present at birth and is caused by a genetic mutation. The TSHR gene is responsible for coding the thyroid-stimulating hormone receptor, which is essential for the thyroid gland to produce thyroid hormones. Mutations in this gene can lead to hypothyroidism.

The TSHR Gene Hypothyroidism Congenital Nongoitrous Type 1 NGS Genetic DNA Test is a genetic test that analyzes the TSHR gene to identify any mutations that may be causing congenital nongoitrous hypothyroidism. The test uses Next-Generation Sequencing (NGS) technology to analyze the DNA and identify any mutations in the TSHR gene.

Symptoms of Congenital Nongoitrous Hypothyroidism

The symptoms of congenital nongoitrous hypothyroidism can vary from person to person, but common symptoms include:

• Poor feeding and slow growth
• Constipation
• Delayed milestones
• Jaundice
• Puffy face
• Dry, coarse skin
• Thick tongue
• Hoarse cry

If left untreated, congenital nongoitrous hypothyroidism can lead to intellectual disability and growth failure.

Diagnosis of Congenital Nongoitrous Hypothyroidism

Congenital nongoitrous hypothyroidism is usually diagnosed through newborn screening programs. The screening involves a blood test that measures the levels of thyroid-stimulating hormone (TSH) in the baby's blood. If the TSH levels are high and the thyroid hormone levels are low, the baby may have congenital nongoitrous hypothyroidism.

A confirmatory diagnosis is usually made through further blood tests and imaging studies.

The TSHR Gene Hypothyroidism Congenital Nongoitrous Type 1 NGS Genetic DNA Test

The TSHR Gene Hypothyroidism Congenital Nongoitrous Type 1 NGS Genetic DNA Test is a genetic test that can be used to confirm a diagnosis of congenital nongoitrous hypothyroidism. The test analyzes the TSHR gene to identify any mutations that may be causing the condition.

The test is performed using a small blood sample. The DNA is extracted from the blood and analyzed using NGS technology. The results of the test can confirm a diagnosis of congenital nongoitrous hypothyroidism and provide information about the specific mutation in the TSHR gene.

Cost of the TSHR Gene Hypothyroidism Congenital Nongoitrous Type 1 NGS Genetic DNA Test

The cost of the TSHR Gene Hypothyroidism Congenital Nongoitrous Type 1 NGS Genetic DNA Test in India is approximately INR 20,000. The cost may vary depending on the laboratory and location.

Conclusion

The TSHR Gene Hypothyroidism Congenital Nongoitrous Type 1 NGS Genetic DNA Test is a valuable tool for confirming a diagnosis of congenital nongoitrous hypothyroidism. The test is non-invasive and provides accurate results that can help guide treatment decisions. If you suspect that you or your child may have congenital nongoitrous hypothyroidism, talk to your doctor about whether the TSHR Gene Hypothyroidism Congenital Nongoitrous Type 1 NGS Genetic DNA Test may be right for you.

At DNA Labs India, we offer a wide range of genetic tests, including the TSHR Gene Hypothyroidism Congenital Nongoitrous Type 1 NGS Genetic DNA Test. Contact us today to learn more about our services and how we can help you.