Nx Gen Sequencing Dravets Syndrome Early Infantile Epileptic Encephalopathy Test
Introduction
The Nx Gen Sequencing Dravets Syndrome Early Infantile Epileptic Encephalopathy Test is a specialized genetic test designed to identify mutations responsible for Dravet syndrome and related early infantile epileptic encephalopathies. This test is crucial for early diagnosis, which can significantly influence treatment decisions and improve the quality of life for affected infants.
What the Test Measures
This test utilizes advanced next-generation sequencing (NGS) technology to analyze the following genes associated with Dravet syndrome and other related conditions:
- ARHGEF9
- ARX
- CDKL5
- GABRG2
- KCNQ2
- KCNT1
- PCDH19
- PNKP
- PLCB1
- SCN1A
- SCN2A
- SCN8A
- SCN9A
- SLC25A22
- SPTAN1
- STXBP1
Who Should Consider This Test?
This test is recommended for infants exhibiting symptoms of severe epilepsy, particularly those who have experienced:
- Frequent seizures that are difficult to control
- Developmental delays
- Abnormal EEG findings
- Family history of epilepsy or genetic disorders
Benefits of Taking the Test
- Early diagnosis can lead to timely interventions and management strategies.
- Identifies specific genetic mutations, aiding in personalized treatment plans.
- Provides valuable information for family planning and genetic counseling.
- Helps in understanding the prognosis and potential outcomes for the child.
Understanding Your Results
Results from the Nx Gen Sequencing Dravets Syndrome test will be provided within 40 working days. A genetic counselor or neurologist will assist in interpreting the results, discussing the implications, and outlining the next steps based on the findings.
Test Name and Price
Discount Price | 46,800 KSh |
---|---|
Regular Price | 52,000 KSh |
Sample Collection Instructions
Please submit 10 mL (5 mL min.) of whole blood from 2 Lavender Top (EDTA) tubes, shipped refrigerated. DO NOT FREEZE. A duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory for testing.
Branches Across Kenya
We have branches in all major cities in Kenya, including Nairobi, Mombasa, Kisumu, and Nakuru. For your convenience, we also offer home sample collection services.
Book Your Test Today!
Don’t wait to get the answers you need. Call or WhatsApp us at +254711564616 to book the Nx Gen Sequencing Dravets Syndrome Early Infantile Epileptic Encephalopathy Test today!