Test Name	TWIST1 Gene Saethre-Chotzen syndrome NGS Genetic DNA Test
Test type	Pediatrics
Pre-test Information	Clinical History of Patient who is going for TWIST1 Gene Saethre-Chotzen syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TWIST1 Gene Saethre-Chotzen syndrome NGS Genetic DNA Test gene TWIST1
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 TWIST1 gene for Saethre-Chotzen syndrome

PreTest Information

Clinical History of Patient who is going for TWIST1 Gene Saethre-Chotzen syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TWIST1 Gene Saethre-Chotzen syndrome NGS Genetic DNA Test gene TWIST1

Detail Description

Understanding Saethre-Chotzen Syndrome: TWIST1 Gene and NGS Genetic DNA Testing

Saethre-Chotzen Syndrome (SCS) is a rare genetic disorder that affects the development of the skull and face. It is caused by mutations in the TWIST1 gene, which provides instructions for making a protein that plays a critical role in the formation of bones and other tissues in the body. Symptoms of SCS can vary widely, but often include a small head, abnormal facial features, and fused skull bones that can lead to vision and hearing problems, as well as developmental delays. While SCS is a genetic condition, it is not always inherited, as many cases occur spontaneously. Diagnosis of SCS typically involves a physical examination, medical history, and genetic testing. Next-generation sequencing (NGS) is one of the most effective methods for identifying mutations in the TWIST1 gene, allowing for accurate diagnosis and appropriate treatment options. At DNA Labs India, we offer NGS genetic DNA testing for SCS at a cost of INR 20,000. Our state-of-the-art technology and experienced team of geneticists ensure reliable and accurate results, enabling patients to receive a timely and effective diagnosis. It is important to note that while there is currently no cure for SCS, early diagnosis and intervention can significantly improve outcomes for patients. Treatment options may include surgery to correct skull abnormalities, as well as therapies to address developmental delays and other symptoms. In conclusion, SCS is a rare genetic disorder caused by mutations in the TWIST1 gene that can lead to a range of physical and developmental symptoms. NGS genetic DNA testing is a critical tool for accurate diagnosis, and early intervention is key to improving outcomes for patients. At DNA Labs India, we are committed to providing reliable and affordable genetic testing services to help patients and their families better understand and manage their health.

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 TWIST1 Gene Saethre-Chotzen syndrome NGS Genetic DNA Test