Short Description

NGS genetic DNA test detecets for variant and mutation detection in TFAP2B gene for Char syndrome

PreTest Information

Clinical History of Patient who is going for TFAP2B Gene Char syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TFAP2B Gene Char syndrome NGS Genetic DNA Test gene TFAP2B

Detail Description

TFAP2B Gene Char Syndrome NGS Genetic DNA Test Cost INR 20,000 - Symptoms and Diagnosis

TFAP2B Gene Char Syndrome is a rare genetic disorder that affects the development of the face, ears, and neck. It is caused by mutations in the TFAP2B gene, which provides instructions for making a protein involved in the development of these structures. The disorder is inherited in an autosomal dominant pattern, which means one copy of the mutated gene is enough to cause the disorder.

Symptoms of TFAP2B Gene Char Syndrome

The symptoms of TFAP2B Gene Char Syndrome can vary widely, even among members of the same family. Some common symptoms include:

• Small or absent earlobes
• Cleft palate
• Small jaw
• Low-set ears
• Short neck
• Facial asymmetry

Diagnosis of TFAP2B Gene Char Syndrome

Diagnosis of TFAP2B Gene Char Syndrome is done through genetic testing. Next-generation sequencing (NGS) is a common method used to analyze the DNA sequence of the TFAP2B gene and detect any mutations. This test can be done using a blood or saliva sample.

If a mutation is found in the TFAP2B gene, a diagnosis of TFAP2B Gene Char Syndrome can be made. A genetic counselor can help patients and their families understand the implications of the diagnosis and provide information about available treatments and support services.

TFAP2B Gene Char Syndrome NGS Genetic DNA Test Cost INR 20,000

The cost of the TFAP2B Gene Char Syndrome NGS Genetic DNA Test in India is approximately INR 20,000. This cost may vary depending on the testing facility and the specific tests ordered.

Conclusion

TFAP2B Gene Char Syndrome is a rare genetic disorder that affects the development of the face, ears, and neck. It is caused by mutations in the TFAP2B gene and is inherited in an autosomal dominant pattern. Diagnosis of TFAP2B Gene Char Syndrome is done through genetic testing, and the cost of the NGS Genetic DNA Test is approximately INR 20,000. If you or someone you know is experiencing symptoms of TFAP2B Gene Char Syndrome, it is important to speak with a healthcare provider or genetic counselor to discuss testing options and available treatments.

At DNA Labs India, we offer a wide range of genetic testing services, including the TFAP2B Gene Char Syndrome NGS Genetic DNA Test. Our team of experts is dedicated to providing accurate and timely results to help patients and their families make informed decisions about their healthcare. Contact us today to learn more about our services and how we can help.

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 TFAP2B Gene Char syndrome NGS Genetic DNA Test