NIPBL Gene Cornelia de Lange Syndrome Type 1 NGS Genetic DNA Test
Introduction
The NIPBL Gene Cornelia de Lange Syndrome Type 1 NGS Genetic DNA Test is a revolutionary diagnostic tool designed to identify mutations in the NIPBL gene, which are associated with Cornelia de Lange Syndrome (CdLS). This syndrome is characterized by a range of developmental and physical challenges, and early diagnosis can significantly improve management and outcomes for affected individuals.
What the Test Measures
This genetic test utilizes Next Generation Sequencing (NGS) technology to analyze the NIPBL gene, detecting any mutations that may lead to the development of Cornelia de Lange Syndrome. By identifying these mutations, healthcare providers can better understand the genetic underpinnings of the condition.
Who Should Consider This Test?
Individuals or families with a history of developmental delays, distinctive facial features, or congenital anomalies should consider this test. Symptoms may include:
- Growth delays
- Intellectual disability
- Characteristic facial features
- Upper limb malformations
Risk factors include having a family member diagnosed with Cornelia de Lange Syndrome or related genetic disorders.
Benefits of Taking the Test
Undergoing the NIPBL Gene Cornelia de Lange Syndrome Type 1 NGS Genetic DNA Test offers several benefits:
- Accurate diagnosis of genetic conditions
- Informed family planning and management strategies
- Access to appropriate medical care and resources
- Peace of mind through genetic counseling
Understanding Your Results
Results from the NIPBL Gene Cornelia de Lange Syndrome Type 1 NGS Genetic DNA Test will typically be available within 3 to 4 weeks. A genetic counselor will help interpret the results, providing insights into the implications for health and family planning. Positive results may indicate the need for further medical evaluation and support.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| NIPBL Gene Cornelia de Lange Syndrome Type 1 NGS Genetic DNA Test | 40000 KSh | 56000 KSh |
Book Your Test Today
We have branches across Kenya, including Nairobi, Mombasa, and Kisumu, and offer a convenient home sample collection service. To book the NIPBL Gene Cornelia de Lange Syndrome Type 1 NGS Genetic DNA Test, call or WhatsApp us at +254711564616. Take the first step towards understanding your genetic health today!
