Short Description

NGS genetic DNA test detecets for variant and mutation detection in CYP27A1 gene for Cerebrotendinous xanthomatosis

PreTest Information

Clinical History of Patient who is going for CYP27A1 Gene Cerebrotendinous xanthomatosis NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CYP27A1 Gene Cerebrotendinous xanthomatosis

Detail Description

CYP27A1 Gene Cerebrotendinous xanthomatosis NGS Genetic DNA Test

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder caused by mutations in the CYP27A1 gene. The CYP27A1 gene encodes a mitochondrial enzyme called sterol 27-hydroxylase, which plays a crucial role in the conversion of cholesterol to bile acids. CTX is characterized by the accumulation of cholestanol and cholesterol in various tissues, including the brain, tendons, and lenses of the eyes.

Symptoms of CTX

CTX is a progressive disorder that usually presents in early adulthood. The symptoms of CTX can vary widely but typically include:

• Chronic diarrhea
• Cognitive impairment
• Developmental delay
• Seizures
• Spasticity
• Visual impairment
• Tendon xanthomas (yellowish deposits of cholesterol in tendons)

Diagnosis of CTX

CTX is diagnosed based on clinical symptoms, biochemical tests, and genetic testing. The diagnosis of CTX is confirmed by the presence of elevated levels of cholestanol in the blood and/or urine. Genetic testing can identify mutations in the CYP27A1 gene, which confirm the diagnosis of CTX.

NGS Genetic DNA Test

The Next-Generation Sequencing (NGS) Genetic DNA Test is a powerful tool for the diagnosis of CTX. This test uses high-throughput sequencing technology to analyze the entire CYP27A1 gene, including all exons and introns. The NGS Genetic DNA Test can identify all known mutations in the CYP27A1 gene, allowing for accurate and comprehensive diagnosis of CTX.

Cost of NGS Genetic DNA Test

The cost of the NGS Genetic DNA Test for CTX is INR 20,000. This includes the cost of sample collection, DNA extraction, sequencing, and analysis. The NGS Genetic DNA Test is available at DNA Labs India, a leading provider of genetic testing services in India.

Conclusion

CTX is a rare genetic disorder that can have serious consequences if left untreated. The NGS Genetic DNA Test is a powerful tool for the accurate diagnosis of CTX. If you or someone you know is experiencing symptoms of CTX, it is important to seek medical attention and consider genetic testing. At DNA Labs India, we are committed to providing accurate and affordable genetic testing services to individuals and families affected by genetic disorders.

Contact us today to learn more about our NGS Genetic DNA Test for CTX and other genetic testing services.

Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder characterized by the accumulation of cholesterol and cholestanol in various tissues, including the brain, tendons, and other body parts. It is caused by mutations in the CYP27A1 gene.

The CYP27A1 gene encodes an enzyme called sterol 27-hydroxylase, which plays a crucial role in the breakdown of cholesterol and the synthesis of bile acids. Mutations in the CYP27A1 gene lead to reduced or absent activity of this enzyme, resulting in the accumulation of cholesterol precursors in the body.

CTX is associated with a range of symptoms, including neurological problems such as cognitive impairment, ataxia (loss of coordination), seizures, and psychiatric symptoms. Tendon xanthomas, which are fatty deposits in the tendons, are also a characteristic feature of the disorder.

Next-Generation Sequencing (NGS) is a genetic testing technique that can be used to identify mutations or variations in the CYP27A1 gene associated with cerebrotendinous xanthomatosis. NGS allows for the simultaneous analysis of multiple genes, providing comprehensive genetic information for accurate diagnosis.

If you suspect that you or someone you know might have cerebrotendinous xanthomatosis or any other genetic disorder, it's important to consult with a neurologist, medical geneticist, or healthcare professional with expertise in metabolic and neurological disorders. Genetic testing, along with clinical evaluation and specialized testing, can help confirm the diagnosis and guide appropriate management strategies.

As always, seeking accurate information and proper care from medical experts and reliable sources is essential.