CYP27A1 Gene Cerebrotendinous Xanthomatosis NGS Genetic DNA Test
Introduction
The CYP27A1 Gene Cerebrotendinous Xanthomatosis NGS Genetic DNA Test is a vital diagnostic procedure that utilizes Next-Generation Sequencing (NGS) technology to identify mutations in the CYP27A1 gene. This genetic condition is linked to Cerebrotendinous Xanthomatosis, a rare and often underdiagnosed neurological disorder characterized by the accumulation of cholestanol in the body, leading to various neurological symptoms.
What the Test Measures
This test specifically detects mutations in the CYP27A1 gene, which are responsible for the metabolic dysfunction seen in Cerebrotendinous Xanthomatosis. By analyzing the genetic material, healthcare providers can assess the risk of developing this condition and guide treatment options.
Who Should Consider This Test
Individuals who may benefit from this test include:
- Those with a family history of Cerebrotendinous Xanthomatosis or related neurological disorders.
- Patients exhibiting symptoms such as cognitive decline, movement disorders, or tendon xanthomas.
- Individuals seeking genetic counseling for informed family planning.
Benefits of Taking the Test
Taking the CYP27A1 Gene Cerebrotendinous Xanthomatosis NGS Genetic DNA Test offers several advantages:
- Early diagnosis allows for timely intervention and management of symptoms.
- Informs family planning decisions through genetic counseling.
- Enhances understanding of the genetic basis of neurological symptoms.
Understanding Your Results
Results from this test will help determine if any mutations are present in the CYP27A1 gene. A genetic counselor or healthcare provider will guide you through the interpretation of results, discussing potential implications for health and treatment options.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| CYP27A1 Gene Cerebrotendinous Xanthomatosis NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Book Your Test Today
We have branches across Kenya, including Nairobi, Mombasa, and Kisumu, and offer a convenient home sample collection service. Don’t wait to take control of your health—book the CYP27A1 Gene Cerebrotendinous Xanthomatosis NGS Genetic DNA Test today! For inquiries, call or WhatsApp us at +254711564616.
Pre-Test Instructions
Before undergoing the test, patients are advised to attend a genetic counseling session to draw a pedigree chart of family members affected by the CYP27A1 Gene Cerebrotendinous Xanthomatosis. This information is crucial for accurate interpretation of test results.
Turnaround Time
The results for the CYP27A1 Gene Cerebrotendinous Xanthomatosis NGS Genetic DNA Test are typically available within 3 to 4 weeks.
