Short Description

NGS genetic DNA test detecets for variant and mutation detection in DHCR24 gene for Desmosterolosis

PreTest Information

Clinical History of Patient who is going for DHCR24 Gene Desmosterolosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DHCR24 Gene Desmosterolosis NGS Genetic DNA Test gene DHCR24

Detail Description

DHCR24 Gene Desmosterolosis NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Desmosterolosis is a rare genetic disorder that affects only a few individuals worldwide. It is caused by mutations in the DHCR24 gene, which codes for an enzyme involved in cholesterol synthesis. This disorder is characterized by an accumulation of desmosterol in the body, which leads to a range of symptoms, including developmental delays, intellectual disability, seizures, and dysmorphic features.

The diagnosis of Desmosterolosis can be challenging, and it often requires genetic testing to confirm the underlying cause of the symptoms. DNA Labs India is a leading provider of genetic testing services in India, and we offer an NGS-based genetic DNA test for DHCR24 Gene Desmosterolosis.

Symptoms of Desmosterolosis

The symptoms of Desmosterolosis can vary widely, and they may not be apparent at birth. In some cases, symptoms may be mild, while in others, they can be severe and life-threatening. Some common symptoms of Desmosterolosis include:

• Developmental delays
• Intellectual disability
• Seizures
• Dysmorphic features
• Abnormalities in the structure of the brain
• Abnormalities in the structure of the eyes
• Low muscle tone
• Growth delays
• Feeding difficulties

Diagnosis of Desmosterolosis

Diagnosing Desmosterolosis can be challenging, and it often requires genetic testing to confirm the underlying cause of the symptoms. The DHCR24 Gene Desmosterolosis NGS Genetic DNA Test offered by DNA Labs India is a comprehensive test that can identify mutations in the DHCR24 gene. This test involves the analysis of a patient's DNA sample to detect any changes or mutations in the DHCR24 gene that may be responsible for the symptoms of Desmosterolosis.

The DHCR24 Gene Desmosterolosis NGS Genetic DNA Test is a highly accurate and reliable test that can provide a definitive diagnosis of Desmosterolosis. This test is performed using advanced next-generation sequencing (NGS) technology, which allows for the analysis of multiple genes simultaneously.

Cost of DHCR24 Gene Desmosterolosis NGS Genetic DNA Test

The cost of the DHCR24 Gene Desmosterolosis NGS Genetic DNA Test offered by DNA Labs India is INR 20,000. This cost includes the analysis of the patient's DNA sample, the interpretation of the test results, and genetic counseling services.

Conclusion

If you or your child is experiencing symptoms of Desmosterolosis, it is essential to seek medical attention and undergo genetic testing to determine the underlying cause of the symptoms. The DHCR24 Gene Desmosterolosis NGS Genetic DNA Test offered by DNA Labs India is a comprehensive and reliable test that can provide a definitive diagnosis of Desmosterolosis. Contact DNA Labs India today to learn more about this test and to schedule an appointment.