PAX8 Gene Hypothyroidism Congenital Nongoitrous Type 2 Familial Genetic Test
Welcome to DNA Labs UAE, where we offer the PAX8 Gene Hypothyroidism Congenital Nongoitrous Type 2 Familial Genetic Test. This test aims to detect mutations in the PAX8 gene that may be responsible for congenital hypothyroidism nongoitrous type 2, a condition where the thyroid gland is absent or severely reduced in size.
Test Details
The PAX8 gene is responsible for encoding a transcription factor that plays a crucial role in the development and function of the thyroid gland. Mutations in this gene can lead to various thyroid disorders, including congenital hypothyroidism nongoitrous type 2. Congenital hypothyroidism refers to an underactive thyroid gland present at birth. Nongoitrous type 2 specifically refers to a form of congenital hypothyroidism where the thyroid gland is absent or severely reduced in size (nongoitrous) and is inherited in a familial pattern.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and identify mutations or variations in the DNA sequence. In the case of PAX8 gene-related hypothyroidism, NGS genetic testing can be used to detect mutations in the PAX8 gene that may be responsible for the condition.
By identifying the specific genetic mutation causing the hypothyroidism, NGS genetic testing can help with accurate diagnosis, genetic counseling, and potentially guide personalized treatment approaches for affected individuals and their families.
Test Components
- Price: 4400.0 AED
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Method: NGS Technology
- Test Type: Hepatology Nephrology Endocrinology Disorders
- Doctor: General Physician
- Test Department: Genetics
Pre Test Information
Prior to undergoing the PAX8 Gene Hypothyroidism Congenital Nongoitrous Type 2 Familial Genetic Test, it is important to provide the clinical history of the patient who will be tested. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected with PAX8 Gene Hypothyroidism Congenital Nongoitrous Type 2 Familial NGS Genetic DNA Test gene PAX8.
At DNA Labs UAE, we strive to provide accurate genetic testing services to aid in the diagnosis and management of genetic disorders. Our team of experts, including general physicians and geneticists, are dedicated to offering personalized care and guidance to individuals and families.
Test Name | PAX8 Gene Hypothyroidism congenital nongoitrous type 2 familial Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Hepatology Nephrology Endocrinology Disorders |
Doctor | General Physician |
Test Department: | Genetics |
Pre Test 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 |
Test Details |
The PAX8 gene is responsible for encoding a transcription factor that plays a crucial role in the development and function of the thyroid gland. Mutations in this gene can lead to various thyroid disorders, including congenital hypothyroidism nongoitrous type 2. Congenital hypothyroidism refers to an underactive thyroid gland present at birth. Nongoitrous type 2 specifically refers to a form of congenital hypothyroidism where the thyroid gland is absent or severely reduced in size (nongoitrous) and is inherited in a familial pattern. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and identify mutations or variations in the DNA sequence. In the case of PAX8 gene-related hypothyroidism, NGS genetic testing can be used to detect mutations in the PAX8 gene that may be responsible for the condition. By identifying the specific genetic mutation causing the hypothyroidism, NGS genetic testing can help with accurate diagnosis, genetic counseling, and potentially guide personalized treatment approaches for affected individuals and their families. |