Short Description

NGS genetic DNA test detecets for variant and mutation detection in EXT1 gene for Langer-Giedion syndrome

PreTest Information

Clinical History of Patient who is going for EXT1 Gene Langer-Giedion syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EXT1 Gene Langer-Giedion syndrome NGS Genetic DNA Test gene EXT1

Detail Description

EXT1 Gene and Langer-Giedion Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Langer-Giedion Syndrome (LGS) is a rare genetic disorder that affects the development of bones and other body parts. It is caused by a deletion of genetic material on chromosome 8, specifically the EXT1 gene. This gene provides instructions for making a protein that is involved in the formation of bones and other tissues. When the EXT1 gene is missing or not functioning properly, it can lead to the development of LGS.

Symptoms of Langer-Giedion Syndrome

The symptoms of LGS can vary widely from person to person. Some of the most common symptoms include:

• Short stature
• Facial abnormalities, such as a small head and a flat nasal bridge
• Abnormalities of the fingers and toes, such as extra digits or webbing
• Delayed development of motor skills, such as crawling and walking
• Intellectual disability or learning difficulties
• Skeletal abnormalities, such as scoliosis or abnormal curvature of the spine
• Heart defects

Diagnosis of Langer-Giedion Syndrome

LGS is diagnosed through a combination of physical exams, medical history, and genetic testing. A doctor may order imaging tests, such as X-rays or CT scans, to look for skeletal abnormalities. They may also order blood tests to check for genetic mutations or deletions, such as those that occur in the EXT1 gene.

NGS Genetic DNA Test Cost for Langer-Giedion Syndrome

The cost of NGS genetic DNA testing for LGS can vary depending on the provider and the specific tests ordered. In India, DNA Labs India offers NGS genetic testing for LGS at a cost of INR 20,000. This test uses next-generation sequencing technology to analyze a person's DNA for genetic mutations or deletions that may be associated with LGS.

Conclusion

Langer-Giedion Syndrome is a rare genetic disorder that can have a significant impact on a person's health and quality of life. Early diagnosis and treatment can help to manage symptoms and improve outcomes. NGS genetic DNA testing can provide valuable information for diagnosis and treatment planning. If you or a loved one is experiencing symptoms of LGS, talk to your doctor about genetic testing options.

For more information on NGS genetic DNA testing for LGS, contact DNA Labs India.