Test Name	TRPS1 Gene Trichorhinophalangeal syndrome type 1 NGS Genetic DNA Test
Test type	Dermatologist
Pre-test Information	Clinical History of Patient who is going for TRPS1 Gene Trichorhinophalangeal syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TRPS1 Gene Trichorhinophalangeal syndrome type 1 NGS Genetic DNA Test gene TRPS1
Report Delivery	3 to 4 Weeks
Components
Price	₹ 20000
Method	NGS Technology

Short Description

NGS genetic DNA test detecets for variant and mutation detection in TRPS1 gene for Trichorhinophalangeal syndrome type 1

PreTest Information

Clinical History of Patient who is going for TRPS1 Gene Trichorhinophalangeal syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TRPS1 Gene Trichorhinophalangeal syndrome type 1 NGS Genetic DNA Test gene TRPS1

Detail Description

TRPS1 Gene Trichorhinophalangeal Syndrome Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Trichorhinophalangeal syndrome type 1 (TRPS1) is a rare genetic disorder that affects various parts of the body. It is caused by mutations in the TRPS1 gene, which provides instructions for making a protein that is involved in the development and maintenance of bones, hair, and other tissues. People with TRPS1 may have distinctive facial features, short stature, and abnormalities of the fingers and toes. If you suspect that you or a loved one may have TRPS1, a genetic DNA test can help confirm the diagnosis. NGS (next-generation sequencing) is a type of genetic testing that can analyze multiple genes at once, providing a more comprehensive analysis of potential genetic mutations. The cost of the TRPS1 gene NGS genetic DNA test in India is typically around INR 20,000. Some common symptoms of TRPS1 include: - Short stature - Abnormalities of the fingers and toes, such as unusually short or curved digits - Distinctive facial features, such as a small nose, thin upper lip, and widely spaced eyes - Slow growth and development - Delayed speech and language development - Mild to moderate intellectual disability If you or your child is experiencing any of these symptoms, it is important to speak with a healthcare provider to determine if genetic testing is appropriate. The diagnosis of TRPS1 is typically made through a combination of physical examination, medical history, and genetic testing. If a genetic mutation is identified, it can help confirm the diagnosis and provide important information about the potential progression of the condition. In addition to genetic testing, treatment for TRPS1 may include physical therapy, orthopedic interventions, and speech therapy. While there is no cure for TRPS1, early diagnosis and intervention can help manage symptoms and improve quality of life. In summary, TRPS1 is a rare genetic disorder that can be diagnosed through genetic DNA testing. NGS testing can provide a more comprehensive analysis of potential genetic mutations, and the cost of the TRPS1 gene NGS genetic DNA test in India is typically around INR 20,000. If you or a loved one is experiencing symptoms of TRPS1, it is important to speak with a healthcare provider to determine if genetic testing is appropriate. Early diagnosis and intervention can help manage symptoms and improve quality of life.

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 TRPS1 Gene Trichorhinophalangeal syndrome type 1 NGS Genetic DNA Test