DIS3L2 Gene Perlman Syndrome NGS Genetic DNA Test
Introduction to the Test
The DIS3L2 Gene Perlman Syndrome NGS Genetic DNA Test is a vital diagnostic tool used to identify mutations in the DIS3L2 gene, which are responsible for Perlman Syndrome. This genetic disorder is characterized by overgrowth, intellectual disability, and various physical anomalies. Early diagnosis through this test can significantly improve management and treatment options for affected individuals.
What the Test Measures
This test detects specific mutations in the DIS3L2 gene using Next Generation Sequencing (NGS) technology. By analyzing the genetic material, healthcare providers can confirm or rule out Perlman Syndrome, enabling timely interventions.
Who Should Consider This Test
Individuals who may benefit from the DIS3L2 Gene Perlman Syndrome NGS Genetic DNA Test include:
- Children exhibiting symptoms of dysmorphology, such as unusual growth patterns or physical features.
- Individuals with a family history of Perlman Syndrome or related genetic conditions.
- Patients with unexplained developmental delays or intellectual disabilities.
Benefits of Taking the Test
Taking the DIS3L2 Gene Perlman Syndrome NGS Genetic DNA Test offers several benefits:
- Accurate identification of genetic mutations, facilitating early diagnosis.
- Guidance for personalized treatment and management plans.
- Informed family planning through genetic counseling.
- Peace of mind for families regarding the genetic health of their loved ones.
Understanding Your Results
Results from the DIS3L2 Gene Perlman Syndrome NGS Genetic DNA Test are typically available within 3 to 4 weeks. A genetic counselor will assist in interpreting the results, explaining the implications of any identified mutations, and discussing the next steps for management.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| DIS3L2 Gene Perlman Syndrome NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Book Your Test Today!
We have branches across Kenya, including major cities such as Nairobi, Mombasa, and Kisumu. Our team is ready to assist you with the DIS3L2 Gene Perlman Syndrome NGS Genetic DNA Test. To book your test, please call or WhatsApp us at +254711564616.
Pre-Test Instructions
Before undergoing the DIS3L2 Gene Perlman Syndrome NGS Genetic DNA Test, it is essential to have a clinical history of the patient and consider a genetic counseling session to draw a pedigree chart of family members affected by this condition.
