Short Description

NGS genetic DNA test detecets for variant and mutation detection in TBX3 gene for Ulnar-Mammary syndrome

PreTest Information

Clinical History of Patient who is going for TBX3 Gene Ulnar-Mammary syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TBX3 Gene Ulnar-Mammary syndrome NGS Genetic DNA Test gene TBX3

Detail Description

TBX3 Gene Ulnar-Mammary Syndrome NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Ulnar-Mammary Syndrome (UMS) is a rare genetic disorder that affects the development of limbs, breasts, and teeth. It is caused by mutations in the TBX3 gene, which is responsible for the formation of limbs and other body parts during embryonic development. UMS is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing on the condition to their children.

Symptoms of Ulnar-Mammary Syndrome

The symptoms of UMS can vary widely from person to person, even within the same family. Some of the most common symptoms include:

• Missing or underdeveloped fingers or toes
• Underdeveloped breasts or nipples
• Missing or underdeveloped teeth
• Abnormal curvature of the spine
• Small stature

Other symptoms that may occur in some individuals include heart defects, hearing loss, and vision problems.

Diagnosing Ulnar-Mammary Syndrome

UMS is diagnosed through a combination of clinical evaluation and genetic testing. A doctor will typically perform a physical exam to look for characteristic signs of the condition, such as missing or underdeveloped fingers or toes. They may also order imaging tests to evaluate the structure of the limbs and spine.

Genetic testing is the most reliable way to confirm a diagnosis of UMS. This typically involves a Next-Generation Sequencing (NGS) test, which looks for mutations in the TBX3 gene. NGS is a highly accurate and efficient way to sequence large amounts of DNA quickly and cost-effectively.

The Cost of Ulnar-Mammary Syndrome NGS Genetic DNA Test

The cost of a UMS NGS genetic DNA test can vary depending on the laboratory performing the test and the specific testing methods used. At DNA Labs India, we offer UMS NGS testing for a cost of INR 20,000.

While this may seem expensive, it is important to remember that genetic testing can provide valuable information about a person's health and future risk for certain conditions. In the case of UMS, a genetic diagnosis can help individuals and their families make informed decisions about family planning and medical management.

Conclusion

Ulnar-Mammary Syndrome is a rare genetic disorder that can cause a range of developmental abnormalities, including missing or underdeveloped fingers, toes, breasts, and teeth. Diagnosis typically involves a combination of clinical evaluation and genetic testing, with NGS sequencing being the most reliable method for detecting mutations in the TBX3 gene. The cost of UMS NGS testing at DNA Labs India is INR 20,000, which can provide valuable information about a person's health and future risk for UMS.

If you or a loved one are experiencing symptoms of UMS, or have a family history of the condition, it is important to speak with a doctor or genetic counselor to discuss testing and management options.

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 TBX3 Gene Ulnar-Mammary syndrome NGS Genetic DNA Test