Symptoms and Testing information for CYP27A1 Gene Cerebrotendinous Xanthomatosis Genetic Test

Symptoms and Testing information for CYP27A1 Gene Cerebrotendinous Xanthomatosis Genetic Test

Cerebrotendinous Xanthomatosis (CTX) is a rare, inherited lipid storage disease caused by mutations in the CYP27A1 gene. This condition leads to abnormal storage of cholesterol and cholestanol in various tissues of the body, including the nervous system and tendons. Early diagnosis and treatment are crucial in managing the symptoms and preventing severe complications. DNA Labs UAE offers a comprehensive genetic test for CTX, enabling accurate diagnosis and facilitating timely intervention.

Understanding Cerebrotendinous Xanthomatosis (CTX)

Cerebrotendinous Xanthomatosis is a progressive disorder that affects the body’s ability to metabolize cholesterol and cholestanol due to a deficiency of the mitochondrial enzyme sterol 27-hydroxylase, encoded by the CYP27A1 gene. The accumulation of these substances leads to the formation of xanthomas in various tissues, including tendons, the brain, and the lungs, which can cause a wide range of symptoms.

Symptoms of Cerebrotendinous Xanthomatosis

The symptoms of CTX can vary widely among individuals and may include:

  • Neurological impairments such as ataxia, spasticity, and peripheral neuropathy.
  • Developmental delay in children and cognitive decline in adults.
  • Chronic diarrhea and other gastrointestinal problems.
  • Cataracts and other vision problems.
  • Premature atherosclerosis leading to an increased risk of heart disease.
  • Xanthomas, which are cholesterol deposits in the tendons, especially the Achilles tendon.

Early diagnosis and treatment can help manage these symptoms and improve the quality of life for individuals with CTX.

Genetic Testing for CTX at DNA Labs UAE

DNA Labs UAE offers a specialized genetic test to diagnose Cerebrotendinous Xanthomatosis by analyzing the CYP27A1 gene. This test is crucial for individuals who present with symptoms of CTX or have a family history of the disease. The genetic test not only confirms the diagnosis but also helps in the early detection of asymptomatic family members, which is essential for timely intervention.

Benefits of Genetic Testing for CTX

  • Accurate diagnosis of Cerebrotendinous Xanthomatosis.
  • Identification of asymptomatic carriers within a family.
  • Enables early intervention and management of symptoms.
  • Provides essential information for family planning.

Test Cost

The cost of the CYP27A1 Gene Cerebrotendinous Xanthomatosis Genetic Test at DNA Labs UAE is 4400 AED. While the test cost may seem high, the benefits of early diagnosis and the potential to significantly improve the quality of life and prevent severe complications justify the investment.


Cerebrotendinous Xanthomatosis is a rare but serious genetic disorder that requires early diagnosis and management. DNA Labs UAE is committed to providing accurate and comprehensive genetic testing services, including the CYP27A1 gene test for CTX. If you or a family member are experiencing symptoms or have a family history of CTX, consider getting tested. For more information and to schedule a test, please visit our website.

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