GABRA1 Gene Early Infantile Epileptic Encephalopathy Type 19 NGS Genetic DNA Test
Introduction
The GABRA1 Gene Early Infantile Epileptic Encephalopathy Type 19 NGS Genetic DNA Test is a pivotal diagnostic tool designed for infants experiencing severe and early-onset seizures. This test utilizes Next Generation Sequencing (NGS) technology to identify mutations in the GABRA1 gene, which are linked to neurological disorders. Understanding these genetic factors is essential for providing tailored treatment plans and improving patient outcomes.
What the Test Measures
This genetic test specifically measures variations in the GABRA1 gene, which encodes a subunit of the GABA(A) receptor. Mutations in this gene can result in abnormal brain activity, leading to early infantile epileptic encephalopathy. By detecting these mutations, healthcare providers can better understand the underlying causes of seizures in affected infants.
Who Should Consider This Test
Parents and guardians should consider the GABRA1 Gene test for infants exhibiting:
- Recurrent seizures, particularly in the first few months of life
- Developmental delays or regression
- Family history of epilepsy or neurological disorders
Consultation with a neurologist is recommended to evaluate the necessity of this test based on clinical symptoms and family history.
Benefits of Taking the Test
There are several benefits to taking the GABRA1 Gene Early Infantile Epileptic Encephalopathy Type 19 NGS Genetic DNA Test:
- Early Diagnosis: Identifying genetic causes can lead to timely interventions.
- Informed Treatment Decisions: Results can guide treatment options and management strategies.
- Family Planning: Understanding genetic risks may aid in future family planning decisions.
Understanding Your Results
Results from the GABRA1 Gene test will indicate the presence or absence of mutations in the gene. A positive result may imply a genetic predisposition to early infantile epileptic encephalopathy, while a negative result can provide reassurance. It is essential to discuss results with a healthcare provider for appropriate interpretation and recommendations.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
GABRA1 Gene Early Infantile Epileptic Encephalopathy Type 19 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To ensure a comprehensive approach to your child’s health, it is essential to book the GABRA1 Gene Early Infantile Epileptic Encephalopathy Type 19 NGS Genetic DNA Test. For more information or to schedule your appointment, please call or WhatsApp us at +2348077798758. Our team is ready to assist you in taking this important step towards understanding your child’s genetic health.
Sample Type and Turnaround Time
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Turnaround Time: 3 to 4 Weeks
Pre-Test Instructions
A clinical history of the patient is required before proceeding with the test. Additionally, a genetic counseling session is recommended to draw a pedigree chart of family members affected by the GABRA1 Gene Early Infantile Epileptic Encephalopathy Type 19.
Book your test today for a clearer understanding of your child’s health!