Short Description

NGS genetic DNA test detecets for variant and mutation detection in TCOF1 gene for Treacher Collins syndrome type 1

PreTest Information

Clinical History of Patient who is going for TCOF1 Gene Treacher Collins syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TCOF1 Gene Treacher Collins syndrome type 1 NGS Genetic DNA Test gene TCOF1

Detail Description

TCOF1 Gene Treacher Collins Syndrome Type 1 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Treacher Collins Syndrome (TCS) is a rare genetic disorder that affects the development of bones and other tissues in the face. It is also known as mandibulofacial dysostosis. This condition is caused by mutations in the TCOF1 gene, which provides instructions for making a protein called treacle. Treacle is involved in the formation and maturation of certain cells that form the bones and tissues of the face.

Treacher Collins Syndrome Type 1 is caused by mutations in the TCOF1 gene. Type 2 is caused by mutations in the POLR1C gene, and Type 3 is caused by mutations in the POLR1D gene. Treacher Collins Syndrome is inherited in an autosomal dominant pattern, which means that only one copy of the mutated gene is needed to cause the condition.

Symptoms of Treacher Collins Syndrome Type 1

The symptoms of Treacher Collins Syndrome Type 1 can vary in severity from person to person. Some common symptoms include:

• Underdeveloped cheekbones
• Small jaw and chin
• Abnormalities of the ears, including small or absent earlobes and external ear canal
• Cleft palate or other abnormalities of the roof of the mouth
• Small nostrils and/or airway blockage

Diagnosis of Treacher Collins Syndrome Type 1

Treacher Collins Syndrome Type 1 can be diagnosed through genetic testing. The most common test is Next Generation Sequencing (NGS) Genetic DNA Test. This test analyzes the TCOF1 gene to detect mutations that may be responsible for the condition. It is a non-invasive test that can be performed using a blood sample or a sample of the patient's saliva.

NGS Genetic DNA Test is a highly accurate and reliable test that can detect mutations in the TCOF1 gene with a high degree of sensitivity. It is an important tool in the diagnosis and management of Treacher Collins Syndrome Type 1.

Cost of NGS Genetic DNA Test for Treacher Collins Syndrome Type 1

The cost of NGS Genetic DNA Test for Treacher Collins Syndrome Type 1 in India is approximately INR 20,000. The cost may vary depending on the location and laboratory where the test is performed. It is important to consult with a genetic counselor or healthcare provider to determine if genetic testing is necessary and to discuss the cost and options for testing.

Conclusion

Treacher Collins Syndrome Type 1 is a rare genetic disorder that can cause a range of physical abnormalities in the face and head. NGS Genetic DNA Test is a highly accurate and reliable test that can detect mutations in the TCOF1 gene with a high degree of sensitivity. The cost of NGS Genetic DNA Test for Treacher Collins Syndrome Type 1 in India is approximately INR 20,000. It is important to consult with a genetic counselor or healthcare provider to determine if genetic testing is necessary and to discuss the cost and options for testing.

Early diagnosis and management of Treacher Collins Syndrome Type 1 can help to improve the quality of life and outcomes for patients and their families.