Short Description

NGS genetic DNA test detecets for variant and mutation detection in TTC21B gene for Short-rib thoracic dysplasia type 4 with or without polydactyly

PreTest Information

Clinical History of Patient who is going for TTC21B Gene Short-rib thoracic dysplasia type 4 with or without polydactyly NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TTC21B Gene Short-rib thoracic dysplasia type 4 with or without polydactyly NGS Genetic DNA Test gene TTC21B

Detail Description

TTC21B Gene Short-rib thoracic dysplasia type 4 with or without polydactyly NGS Genetic DNA Test

Short-rib thoracic dysplasia (SRTD) is a group of rare genetic disorders that affect the development of bones and other tissues in the body. SRTD is caused by mutations in different genes that are involved in the formation and maintenance of bone and cartilage. One of the genes associated with SRTD is TTC21B.

TTC21B gene mutations are known to cause Short-rib thoracic dysplasia type 4 with or without polydactyly (SRTD4), a severe form of SRTD that affects the bones and other tissues in the chest, as well as the limbs and other parts of the body.

Symptoms of SRTD4

The symptoms of SRTD4 can vary from person to person, but typically include:

• Shortening of the ribs
• Narrowing of the chest
• Underdeveloped lungs
• Polydactyly (extra fingers or toes)
• Abnormalities of the limbs
• Facial abnormalities
• Low birth weight
• Respiratory distress

Diagnosis of SRTD4

SRTD4 can be diagnosed before birth using ultrasound imaging. After birth, a physical examination can reveal some of the physical characteristics associated with SRTD4. Genetic testing can confirm a diagnosis of SRTD4 by identifying mutations in the TTC21B gene.

NGS Genetic DNA Test for SRTD4

NGS (Next Generation Sequencing) genetic testing is a powerful tool for identifying genetic mutations associated with SRTD4. This type of testing can analyze multiple genes at once, including TTC21B, to provide a comprehensive analysis of genetic mutations that may be contributing to the development of SRTD4.

Cost of NGS Genetic DNA Test for SRTD4 in India

The cost of NGS genetic testing for SRTD4 in India can vary depending on the specific test and the laboratory performing the test. On average, the cost of NGS genetic testing for SRTD4 is around INR 20,000.

Conclusion

SRTD4 is a rare genetic disorder that can have serious consequences for affected individuals. Genetic testing, including NGS testing, can provide valuable information for diagnosis and treatment of SRTD4. If you suspect that you or a loved one may be affected by SRTD4, talk to your doctor about genetic testing options.