UBE3B Gene Blepharophimosis-ptosis-Intellectual Disability Syndrome NGS Genetic DNA Test
Introduction
The UBE3B Gene Blepharophimosis-ptosis-Intellectual Disability Syndrome NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the UBE3B gene, which are associated with various genetic disorders affecting the eyes and cognitive functions. This test is vital for individuals presenting symptoms of blepharophimosis, ptosis, and intellectual disabilities, providing clarity and direction for treatment and management.
What the Test Measures
This test detects specific mutations in the UBE3B gene through Next-Generation Sequencing (NGS) technology. By analyzing the genetic makeup, healthcare professionals can determine if a patient is at risk for conditions related to blepharophimosis and associated intellectual disabilities.
Who Should Consider This Test
Patients who exhibit the following symptoms or have a family history of related disorders should consider this test:
- Blepharophimosis (narrowing of the eyelid openings)
- Ptosis (drooping of the upper eyelid)
- Intellectual disabilities or developmental delays
- Family history of UBE3B gene mutations
Benefits of Taking the Test
- Accurate diagnosis of genetic conditions related to eye disorders.
- Informed decision-making regarding treatment options.
- Identification of at-risk family members for early intervention.
- Access to genetic counseling for better understanding and support.
Understanding Your Results
Results from the UBE3B Gene Blepharophimosis-ptosis-Intellectual Disability Syndrome NGS Genetic DNA Test will be provided with comprehensive guidance. A healthcare professional will interpret the findings, explaining the implications of any identified mutations and potential next steps in management.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| UBE3B Gene Blepharophimosis-ptosis-Intellectual Disability Syndrome NGS Genetic DNA Test | 400,000 | 560,000 |
Book the Test
To schedule your UBE3B Gene Blepharophimosis-ptosis-Intellectual Disability Syndrome NGS Genetic DNA Test, please call or WhatsApp us at +2348077798758. Our team is ready to assist you with any questions and guide you through the booking process.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: A clinical history of the patient is required, along with a genetic counseling session to draw a pedigree chart of family members affected by the UBE3B gene mutation.
Consult with an ophthalmologist or a geneticist for further evaluation and to discuss the implications of your test results.
