Short Description

NGS genetic DNA test detecets for variant and mutation detection in ADAMTSL2 gene for Geleophysic dysplasia type 1

PreTest Information

Clinical History of Patient who is going for ADAMTSL2 Gene Geleophysic dysplasia type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ADAMTSL2 Gene Geleophysic dysplasia type 1 NGS Genetic DNA Test gene ADAMTSL2

Detail Description

ADAMTSL2 Gene and Geleophysic Dysplasia Type 1: NGS Genetic DNA Test Cost INR 20000

Geleophysic dysplasia type 1 is a rare genetic disorder that affects the development of bones and other connective tissues. It is caused by mutations in the ADAMTSL2 gene, which provides instructions for making a protein that is important for the structure and function of connective tissues.

Symptoms of Geleophysic dysplasia type 1 can vary widely, but may include short stature, joint stiffness, distinctive facial features, and heart and lung problems. Diagnosis of Geleophysic dysplasia type 1 is typically made through a combination of physical exams, medical imaging, and genetic testing.

NGS Genetic DNA Test for ADAMTSL2 Gene

NGS Genetic DNA testing is a highly accurate method for identifying mutations in the ADAMTSL2 gene that may be causing Geleophysic dysplasia type 1. This test involves sequencing the DNA of the patient to look for specific changes in the ADAMTSL2 gene.

The NGS Genetic DNA test for ADAMTSL2 gene can help provide a definitive diagnosis for patients with Geleophysic dysplasia type 1. It can also help identify carriers of the ADAMTSL2 mutation, which can be important for family planning and genetic counseling.

Cost of NGS Genetic DNA Test for ADAMTSL2 Gene

The cost of the NGS Genetic DNA test for ADAMTSL2 gene is INR 20000. This cost covers the sequencing of the patient’s DNA, as well as the analysis and interpretation of the results by trained genetic counselors and medical professionals.

While the cost of genetic testing may seem high, it is important to remember that a definitive diagnosis can help patients and their families better understand their condition and plan for their future care.

Conclusion

The NGS Genetic DNA test for ADAMTSL2 gene is a valuable tool for diagnosing Geleophysic dysplasia type 1 and identifying carriers of the ADAMTSL2 mutation. While the cost of this test may be a concern for some patients, it is important to remember that a definitive diagnosis can provide important information for planning future care.

If you or a loved one have symptoms of Geleophysic dysplasia type 1, speak with your doctor about the possibility of genetic testing to help provide a clear diagnosis and plan for future care.

For more information on NGS Genetic DNA testing and other genetic testing options, contact DNA Labs India.