Short Description

NGS genetic DNA test detecets for variant and mutation detection in PAX8 gene for Hypothyroidism congenital nongoitrous type 2, familial

PreTest Information

Clinical History of Patient who is going for PAX8 Gene Hypothyroidism congenital nongoitrous type 2, familial NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PAX8 Gene Hypothyroidism congenital nongoitrous type 2, familial NGS Genetic DNA Test gene PAX8

Detail Description

PAX8 Gene Hypothyroidism Congenital Nongoitrous Type 2: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Hypothyroidism is a condition that occurs due to an underactive thyroid gland, which leads to a decreased production of thyroid hormones. Congenital nongoitrous hypothyroidism is a rare type of hypothyroidism that is present at birth and is caused by genetic mutations. One of the genes associated with this condition is the PAX8 gene.

Symptoms of PAX8 Gene Hypothyroidism Congenital Nongoitrous Type 2

The symptoms of PAX8 gene hypothyroidism congenital nongoitrous type 2 are similar to those of other types of hypothyroidism and may include:

• Fatigue
• Weight gain
• Constipation
• Dry skin
• Feeling cold
• Depression
• Slow growth and development (in infants and children)

These symptoms may not be present at birth, but can develop over time as the condition progresses.

Diagnosis of PAX8 Gene Hypothyroidism Congenital Nongoitrous Type 2

Diagnosis of PAX8 gene hypothyroidism congenital nongoitrous type 2 involves a combination of clinical evaluation, laboratory tests, and genetic testing. Blood tests that measure thyroid hormone levels and thyroid-stimulating hormone (TSH) levels can help diagnose hypothyroidism. In some cases, imaging tests such as ultrasound may be performed to evaluate the thyroid gland.

Genetic testing can help identify mutations in the PAX8 gene that are associated with congenital nongoitrous hypothyroidism. Next-generation sequencing (NGS) genetic testing is a powerful tool that can analyze multiple genes simultaneously and provide a comprehensive genetic evaluation for patients with suspected genetic conditions.

NGS Genetic DNA Test Cost for PAX8 Gene Hypothyroidism Congenital Nongoitrous Type 2

The cost of NGS genetic DNA testing for PAX8 gene hypothyroidism congenital nongoitrous type 2 may vary depending on the laboratory and the specific testing panel used. However, the cost generally ranges from INR 20,000 to INR 30,000.

NGS genetic testing is a valuable tool for diagnosing genetic conditions such as PAX8 gene hypothyroidism congenital nongoitrous type 2. Early diagnosis and treatment can help prevent complications and improve outcomes for patients with this condition.

Conclusion

PAX8 gene hypothyroidism congenital nongoitrous type 2 is a rare genetic condition that can cause hypothyroidism. Symptoms may include fatigue, weight gain, and slow growth and development. Diagnosis involves a combination of clinical evaluation, laboratory tests, and genetic testing. NGS genetic DNA testing can help identify mutations in the PAX8 gene and is generally available at a cost of INR 20,000 to INR 30,000. Early diagnosis and treatment can help prevent complications and improve outcomes for patients with this condition.

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 PAX8 Gene Hypothyroidism congenital nongoitrous type 2, familial NGS Genetic DNA Test