Short Description

NGS genetic DNA test detecets for variant and mutation detection in DHCR7 gene for Smith-Lemli-Opitz syndrome

PreTest Information

Clinical History of Patient who is going for DHCR7 Gene Smith-Lemli-Opitz syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DHCR7 Gene Smith-Lemli-Opitz syndrome NGS Genetic DNA Test gene DHCR7

Detail Description

DHCR7 Gene Smith-Lemli-Opitz Syndrome NGS Genetic DNA Test

Smith-Lemli-Opitz Syndrome (SLOS) is a rare genetic disorder that affects the body's ability to produce cholesterol. It is caused by a mutation in the DHCR7 gene, which is responsible for producing an enzyme that is necessary for the body to make cholesterol. This deficiency results in a wide range of symptoms, including developmental delays, intellectual disability, physical abnormalities, and behavioral problems.

There are several different methods for diagnosing SLOS, including physical exams, blood tests, and genetic testing. One of the most reliable and accurate ways to diagnose SLOS is through NGS (Next-Generation Sequencing) genetic DNA testing.

Symptoms of Smith-Lemli-Opitz Syndrome

The symptoms of SLOS can vary widely between individuals, but some of the most common symptoms include:

• Developmental delays
• Intellectual disability
• Physical abnormalities, such as small head size, cleft palate, and extra fingers or toes
• Behavioral problems, including self-injury and aggression
• Gastrointestinal problems
• Difficulty with coordination and movement

Diagnosing Smith-Lemli-Opitz Syndrome

Diagnosing SLOS can be challenging, as many of the symptoms are similar to those of other disorders. However, genetic testing can provide a definitive diagnosis in most cases. NGS genetic DNA testing is a powerful tool that can identify mutations in the DHCR7 gene, which is responsible for SLOS.

NGS testing is a highly accurate and reliable method of genetic testing, and it can provide results in just a few weeks. The test involves sequencing the entire genome to identify mutations that may be responsible for the disorder. Once the mutations are identified, a genetic counselor can help interpret the results and provide guidance on treatment options.

The Cost of NGS Genetic DNA Testing for SLOS

The cost of NGS genetic DNA testing for SLOS can vary depending on several factors, including the laboratory performing the test, the complexity of the analysis, and any additional services or consultations that may be required. At DNA Labs India, we offer NGS genetic DNA testing for SLOS at a cost of INR 20,000.

Our testing process is designed to be fast, accurate, and affordable, and we are committed to providing our clients with the highest level of service and support. If you suspect that you or a loved one may have SLOS, we encourage you to contact us to learn more about our NGS genetic DNA testing services.

Conclusion

Smith-Lemli-Opitz Syndrome is a rare genetic disorder that can have a significant impact on a person's quality of life. If you or someone you know is experiencing symptoms of SLOS, it is important to seek medical attention as soon as possible. NGS genetic DNA testing is a highly accurate and reliable method of diagnosing SLOS, and it can provide valuable information that can help guide treatment options. At DNA Labs India, we are committed to providing our clients with the highest level of service and support, and we encourage you to contact us to learn more about our testing services.

For more information, or to schedule an appointment for genetic testing, please visit our website or contact us directly.