CHD7 Gene CHARGE Syndrome NGS Genetic DNA Test
Introduction
The CHD7 Gene CHARGE Syndrome NGS Genetic DNA Test is a groundbreaking diagnostic tool that plays a crucial role in identifying genetic disorders linked to CHARGE syndrome. This condition, characterized by a range of congenital anomalies, is associated with mutations in the CHD7 gene. Understanding these genetic factors is essential for effective management and support for affected individuals and their families.
What the Test Measures
This test specifically detects mutations in the CHD7 gene, which are responsible for CHARGE syndrome. By analyzing the DNA, healthcare providers can confirm a diagnosis and provide insights into the potential implications for the patient and their family.
Who Should Consider This Test
Individuals exhibiting symptoms of CHARGE syndrome or those with a family history of the condition should consider this test. Symptoms may include:
- Coloboma (defect in the eye)
- Heart defects
- Atresia of the choanae (blockage of the nasal passage)
- Growth and development delays
Risk factors include having a family member diagnosed with CHARGE syndrome or presenting with multiple congenital anomalies.
Benefits of Taking the Test
- Accurate Diagnosis: Confirming the presence of CHD7 gene mutations.
- Informed Family Planning: Understanding genetic risks for future pregnancies.
- Tailored Management: Developing personalized care plans based on genetic findings.
- Access to Support Services: Connecting with resources and support groups for affected families.
Understanding Your Results
Results from the CHD7 Gene CHARGE Syndrome NGS Genetic DNA Test will be provided by a qualified genetic counselor. They will help interpret the findings and discuss the implications for the patient and the family. It is essential to understand that a positive result indicates the presence of a mutation, while a negative result does not rule out the condition entirely.
Test Details and Pricing
| Test Name | CHD7 Gene CHARGE Syndrome NGS Genetic DNA Test |
|---|---|
| Discount Price | 400000 NGN |
| Regular Price | 560000 NGN |
Booking the Test
To book the CHD7 Gene CHARGE Syndrome NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website to schedule an appointment. Our team is ready to assist you with any questions and guide you through the 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 with CHARGE syndrome.
