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 that plays a pivotal role in diagnosing Dravet syndrome and other related early infantile epileptic encephalopathies. This test utilizes next-generation sequencing (NGS) and Sanger sequencing methodologies to identify mutations in key genes associated with these conditions.
What the Test Measures
This test measures specific genetic mutations in the following genes: ARHGEF9, ARX, CDKL5, GABRG2, KCNQ2, KCNT1, PCDH19, PNKP, PLCB1, SCN1A, SCN2A, SCN8A, SCN9A, SLC25A22, SPTAN1, and STXBP1. Detecting these mutations is essential for understanding the underlying genetic factors contributing to early infantile epileptic encephalopathy.
Who Should Consider This Test?
This test is recommended for patients who exhibit symptoms such as:
- Severe seizures that begin in infancy
- Developmental delays or regression
- Abnormal EEG findings
- Family history of epilepsy or related genetic disorders
If you or your child experiences any of these symptoms, consulting a neurologist may warrant this test.
Benefits of Taking the Test
Taking the Nx Gen Sequencing Dravets Syndrome Early Infantile Epileptic Encephalopathy Test offers several benefits:
- Accurate diagnosis of genetic disorders
- Informed treatment decisions
- Better understanding of prognosis
- Guidance for family planning
- Access to specialized care and support
Understanding Your Results
Results from this test will provide insight into the presence of genetic mutations. A positive result may indicate the need for further evaluation and tailored treatment options. It is important to discuss results with your healthcare provider to understand their implications fully.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Nx Gen Sequencing Dravets Syndrome Early Infantile Epileptic Encephalopathy Test | 468000 NGN | 520000 NGN |
Pre-Test Instructions
Prior to the test, ensure that you have a duly filled Whole Exome Sequencing Consent Form (Form 37). This is mandatory for processing your sample.
Sample Collection
Please submit 10 mL (5 mL min.) of whole blood from 2 Lavender Top (EDTA) tubes. The sample should be shipped refrigerated and must not be frozen.
Book Your Test Today!
Don’t wait to get the answers you need. Book the Nx Gen Sequencing Dravets Syndrome Early Infantile Epileptic Encephalopathy Test today by calling or WhatsApping us at +2348077798758.
