Nx Gen Sequencing Aicardigoutieres Syndrome Test
Introduction to the Test
The Nx Gen Sequencing Aicardigoutieres Syndrome Test is a cutting-edge diagnostic tool designed to detect genetic disorders associated with encephalopathy. This test employs advanced Next-Generation Sequencing (NGS) and Sanger sequencing methodologies to analyze specific genes related to the condition. Understanding genetic factors is crucial for accurate diagnosis and effective management of patients presenting with neurological symptoms.
What the Test Measures
This test focuses on the analysis of several key genetic components, including:
- ADAR
- IFIH1
- RNASEH2A
- RNASEH2B
- RNASEH2C
- SAMHD1
- TREX1
By examining these genes, the Nx Gen Sequencing Aicardigoutieres Syndrome Test can identify mutations that may contribute to the development of Aicardigoutieres Syndrome and other related disorders.
Who Should Consider This Test
This test is particularly important for individuals presenting with symptoms such as:
- Neurological abnormalities
- Developmental delays
- Seizures
- Unexplained encephalopathy
Additionally, those with a family history of genetic disorders or neurological diseases should consider this test for early detection and management.
Benefits of Taking the Test
The Nx Gen Sequencing Aicardigoutieres Syndrome Test offers numerous benefits, including:
- Accurate identification of genetic mutations
- Guidance for treatment options
- Informed family planning decisions
- Early intervention strategies for affected individuals
Understanding Your Results
Results from the Nx Gen Sequencing Aicardigoutieres Syndrome Test will be provided within 40 working days after sample submission. It is essential to discuss your results with a qualified healthcare professional, such as a neurologist or pediatrician, who can help interpret the findings and recommend appropriate next steps.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
Nx Gen Sequencing Aicardigoutieres Syndrome Test | 46800 KSh | 52000 KSh |
Sample Submission and Pre-test Instructions
To ensure accurate results, please submit a sample of 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. The sample must be shipped refrigerated and should not be frozen. Additionally, a duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory for test processing.
Book Your Test Today
We have branches across all major cities in Kenya and provide home sample collection services. Don’t wait to get answers about your health. Book the Nx Gen Sequencing Aicardigoutieres Syndrome Test today! For inquiries, call or WhatsApp us at +254713408028.