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Accurate Test Results for IFT80 Gene Short-rib thoracic dysplasia type 2 with or without polydactyly NGS Genetic DNA Test
IFT80 Gene Short-rib thoracic dysplasia type 2 with or without polydactyly NGS Genetic DNA Test Cost 20000 Rs
IFT80 Gene Short-rib thoracic dysplasia type 2 with or without polydactyly NGS Genetic DNA Test Details
Short-Rib Thoracic Dysplasia Type 2 with or without Polydactyly: Understanding the IFT80 Gene and the NGS Genetic DNA Test Cost in India
Short-rib thoracic dysplasia type 2 with or without polydactyly (SRTD2) is a rare genetic disorder that affects the development of bones and other body tissues. It is caused by mutations in the IFT80 gene, which provides instructions for making a protein that is essential for the formation of cilia, the tiny hair-like structures that help cells move and communicate with each other. When the IFT80 gene is mutated, cilia formation is disrupted, leading to a range of developmental abnormalities.
Symptoms of SRTD2
The symptoms of SRTD2 can vary widely in severity and can affect many different parts of the body. Some of the most common symptoms include:
- Short stature
- Narrow and/or bell-shaped chest
- Abnormalities of the spine and ribs
- Extra fingers and/or toes (polydactyly)
- Abnormalities of the heart, kidneys, and other organs
Some infants with SRTD2 are stillborn or die shortly after birth, while others may survive into adulthood with significant physical and developmental challenges.
Diagnosis of SRTD2
Diagnosing SRTD2 can be challenging, as it is a rare disorder with a wide range of symptoms. Doctors may use a variety of tests and imaging studies to look for signs of SRTD2, including:
- X-rays and other imaging tests to evaluate bone and organ development
- Genetic testing to look for mutations in the IFT80 gene
- Physical exams to look for characteristic physical features
- Tests to evaluate heart and kidney function
Genetic testing is often the most definitive way to diagnose SRTD2, as it can identify specific mutations in the IFT80 gene that are associated with the disorder.
NGS Genetic DNA Test Cost in India
The cost of NGS genetic DNA testing for SRTD2 in India can vary depending on the laboratory and other factors. At DNA Labs India, the cost of NGS genetic DNA testing for SRTD2 is INR 20,000. This test uses next-generation sequencing technology to analyze the entire IFT80 gene for mutations that are associated with SRTD2.
NGS genetic DNA testing is a powerful tool for diagnosing rare genetic disorders like SRTD2, as it can identify mutations that may be missed by other types of genetic tests. This can help doctors make more accurate diagnoses and provide better treatment options for patients with SRTD2.
Conclusion
Short-rib thoracic dysplasia type 2 with or without polydactyly is a rare genetic disorder that can cause a range of physical and developmental abnormalities. Genetic testing, including NGS genetic DNA testing, can be an important tool for diagnosing SRTD2 and providing appropriate care for affected individuals. If you or a loved one are experiencing symptoms of SRTD2, talk to your doctor about whether genetic testing may be appropriate.
For more information about NGS genetic DNA testing for SRTD2 or other genetic disorders, contact DNA Labs India today.
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 IFT80 Gene Short-rib thoracic dysplasia type 2 with or without polydactyly NGS Genetic DNA Test