ESCO2 Gene SC Phocomelia Syndrome NGS Genetic DNA Test
Introduction to the Test
The ESCO2 Gene SC Phocomelia Syndrome NGS Genetic DNA Test is a cutting-edge diagnostic tool that employs Next Generation Sequencing (NGS) technology to identify genetic mutations associated with phocomelia syndrome. This condition is characterized by the malformation of limbs, and understanding its genetic basis is crucial for effective management and counseling.
What the Test Measures
This test specifically detects mutations in the ESCO2 gene, which are linked to phocomelia syndrome. By analyzing the genetic material, the test provides valuable insights into the patient’s genetic makeup, helping to confirm a diagnosis.
Who Should Consider This Test?
Individuals with a family history of limb malformations or those exhibiting symptoms consistent with dysmorphology should consider this genetic test. Symptoms may include:
- Shortened or absent limbs
- Other skeletal abnormalities
- Developmental delays
Benefits of Taking the Test
Taking the ESCO2 Gene SC Phocomelia Syndrome NGS Genetic DNA Test offers several benefits:
- Accurate diagnosis of genetic conditions
- Informed family planning and risk assessment
- Access to specialized medical care and interventions
- Genetic counseling support for affected families
Understanding Your Results
Results from the ESCO2 Gene SC Phocomelia Syndrome NGS Genetic DNA Test will provide information on the presence of mutations in the ESCO2 gene. A genetic counselor will assist in interpreting these results, guiding you through the implications for health and family planning.
Test Pricing
Test Name | Discount Price (NGN) | Regular Price (NGN) |
---|---|---|
ESCO2 Gene SC Phocomelia Syndrome NGS Genetic DNA Test | 400,000 | 560,000 |
Booking Your Test
To book the ESCO2 Gene SC Phocomelia Syndrome NGS Genetic DNA Test, please contact us at DNA Labs Nigeria. Our team is ready to assist you with scheduling your appointment and providing any additional information you may need.
Contact us at: +2348077798758
Test Details
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
- Pre-Test Instructions: Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with ESCO2 Gene SC Phocomelia syndrome.
Ensure you take this important step in understanding your genetic health. Book your test today!