Pik3R1 Gene Short Syndrome NGS Genetic DNA Test
Introduction
The Pik3R1 Gene Short Syndrome NGS Genetic DNA Test is a groundbreaking diagnostic tool designed to identify mutations in the PIK3R1 gene, which are associated with a range of clinical manifestations including dysmorphology. This test employs Next Generation Sequencing (NGS) technology to provide accurate and comprehensive insights into an individual’s genetic makeup, thereby aiding in the diagnosis and management of genetic disorders.
What the Test Measures
This test specifically measures alterations in the PIK3R1 gene, which plays a critical role in cellular signaling pathways. By detecting these mutations, healthcare providers can better understand the genetic basis of dysmorphology and associated syndromes.
Who Should Consider This Test
Individuals who may benefit from the Pik3R1 Gene Short Syndrome NGS Genetic DNA Test include:
- Patients exhibiting physical abnormalities or developmental delays.
- Individuals with a family history of PIK3R1 gene mutations.
- Patients with unexplained dysmorphology.
Benefits of Taking the Test
Taking the Pik3R1 Gene Short Syndrome NGS Genetic DNA Test offers numerous benefits, including:
- Accurate identification of genetic mutations.
- Guidance for treatment and management strategies.
- Informed family planning for at-risk individuals.
- Access to targeted therapies based on genetic findings.
Understanding Your Results
Results from the Pik3R1 Gene Short Syndrome NGS Genetic DNA Test will be interpreted by qualified genetic counselors and medical professionals. They will provide guidance on the implications of the test results and discuss potential next steps for management and treatment.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 560,000 NGN |
Booking the Test
To book the Pik3R1 Gene Short Syndrome NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling your appointment and providing any additional information you may need.
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 by the PIK3R1 gene.
This test falls under the specialty of Pediatrics and the department of Genetics, focusing on dysmorphology through advanced NGS technology.
