Short Description

NGS genetic DNA test detecets for variant and mutation detection in ABHD5 gene for Chanarin-Dorfman syndrome

PreTest Information

Clinical History of Patient who is going for ABHD5 Gene Chanarin-Dorfman syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Chanarin-Dorfman syndrome

Detail Description

ABHD5 Gene Chanarin-Dorfman Syndrome NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Chanarin-Dorfman Syndrome (CDS) is a rare autosomal recessive disorder caused by a mutation in the ABHD5 gene. CDS is characterized by the accumulation of lipid droplets in various tissues, including the skin, liver, and muscles. NGS Genetic DNA Test is a highly advanced genetic testing method that can detect mutations in the ABHD5 gene that cause CDS. The cost of this test in India is INR 20,000.

Symptoms of Chanarin-Dorfman Syndrome

People with CDS may have a variety of symptoms, including:

• Excessive accumulation of lipid droplets in various tissues, including the skin, liver, and muscles
• Ichthyosis (a skin disorder characterized by dry, scaly skin)
• Hepatomegaly (enlargement of the liver)
• Splenomegaly (enlargement of the spleen)
• Myopathy (a muscle disorder that may cause weakness, pain, or cramps)
• Ataxia (a lack of coordination or balance)

Diagnosis of Chanarin-Dorfman Syndrome

Diagnosis of CDS typically involves a combination of clinical evaluation, laboratory testing, and genetic testing. A dermatologist may perform a skin biopsy to examine the lipid droplets in the skin. Blood tests may be done to evaluate liver and muscle function. Genetic testing, such as NGS Genetic DNA Test, can confirm the presence of mutations in the ABHD5 gene that cause CDS.

NGS Genetic DNA Test for Chanarin-Dorfman Syndrome

Next-Generation Sequencing (NGS) Genetic DNA Test is a highly advanced genetic testing method that can detect mutations in the ABHD5 gene that cause Chanarin-Dorfman Syndrome. The test involves sequencing the entire ABHD5 gene to identify any mutations or changes that may be present. The NGS Genetic DNA Test is a highly accurate and reliable method for diagnosing CDS.

Cost of NGS Genetic DNA Test for Chanarin-Dorfman Syndrome

The cost of NGS Genetic DNA Test for Chanarin-Dorfman Syndrome in India is INR 20,000. This test is typically not covered by insurance, so patients should be prepared to pay for it out of pocket. However, the cost may vary depending on the laboratory that performs the test.

Conclusion

Chanarin-Dorfman Syndrome is a rare autosomal recessive disorder caused by a mutation in the ABHD5 gene. NGS Genetic DNA Test is a highly advanced genetic testing method that can detect mutations in the ABHD5 gene that cause CDS. The cost of this test in India is INR 20,000. If you or a loved one is experiencing symptoms of CDS, it is important to seek medical attention and consider genetic testing to confirm a diagnosis.