CHD7 Gene CHARGE Syndrome NGS Genetic DNA Test
Introduction
The CHD7 Gene CHARGE Syndrome NGS Genetic DNA Test is a state-of-the-art diagnostic tool that utilizes Next Generation Sequencing (NGS) technology to analyze the CHD7 gene, which is crucial in diagnosing CHARGE syndrome. This genetic disorder is characterized by a spectrum of abnormalities including coloboma, heart defects, atresia of the choanae, retardation of growth and development, genital abnormalities, and ear anomalies. Understanding the genetic basis of CHARGE syndrome is vital for effective management and intervention.
What the Test Measures
This test specifically detects mutations in the CHD7 gene that are associated with CHARGE syndrome. By identifying these mutations, healthcare providers can better understand the genetic factors contributing to the disorder, facilitating personalized treatment plans.
Who Should Consider This Test
Individuals or families with a history of CHARGE syndrome or those exhibiting symptoms such as:
- Coloboma of the eye
- Heart defects
- Growth retardation
- Genital abnormalities
- Hearing loss
are strongly encouraged to consider this test. Additionally, those with a family history of genetic disorders should consult their healthcare provider about the benefits of genetic testing.
Benefits of Taking the Test
- Accurate diagnosis of CHARGE syndrome, allowing for timely intervention.
- Informed family planning and risk assessment for future pregnancies.
- Access to targeted therapies and management strategies based on genetic findings.
- Peace of mind for families regarding the genetic health of their children.
Understanding Your Results
Interpreting the results of the CHD7 Gene CHARGE Syndrome NGS Genetic DNA Test requires professional guidance. Typically, a genetic counselor will explain the findings, including:
- Presence or absence of mutations in the CHD7 gene.
- Implications of the results for the individual and their family.
- Recommendations for further testing or interventions if necessary.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| CHD7 Gene CHARGE Syndrome NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The sample type required for this test can be blood, extracted DNA, or one drop of blood on an FTA card. Prior to testing, 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 CHD7 gene.
Book Your Test Today!
DNA Labs Kenya has branches across all major cities, making it easy for you to access this essential genetic testing service. To book the CHD7 Gene CHARGE Syndrome NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
Take the first step towards understanding your genetic health today!
