SH3PXD2B Gene Frankter Haar Syndrome NGS Genetic DNA Test
Introduction
The SH3PXD2B Gene Frankter Haar Syndrome NGS Genetic DNA Test is an advanced genetic test designed to detect mutations in the SH3PXD2B gene, which is associated with Frankter Haar syndrome. This rare genetic disorder presents with various symptoms, including distinctive facial features, skeletal abnormalities, and developmental delays. Understanding the genetic basis of this condition is crucial for accurate diagnosis and management.
What the Test Measures
This test specifically measures the presence of mutations in the SH3PXD2B gene through Next Generation Sequencing (NGS) technology. By analyzing the genetic material, healthcare providers can determine if an individual is a carrier of the gene mutation linked to Frankter Haar syndrome.
Who Should Consider This Test
Individuals who exhibit the following symptoms or have a family history of Frankter Haar syndrome should consider this test:
- Distinctive facial features
- Skeletal abnormalities
- Developmental delays
- Family history of genetic disorders
Benefits of Taking the Test
Taking the SH3PXD2B Gene Frankter Haar Syndrome NGS Genetic DNA Test offers numerous benefits:
- Accurate diagnosis of Frankter Haar syndrome
- Informed family planning and genetic counseling
- Access to targeted treatment options
- Peace of mind for individuals and families
Understanding Your Results
Results from the SH3PXD2B Gene Frankter Haar Syndrome NGS Genetic DNA Test will be provided in a comprehensive report. A healthcare professional will guide you through the interpretation of results, explaining any detected mutations and their implications for health and treatment options.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| SH3PXD2B Gene Frankter Haar Syndrome NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the SH3PXD2B Gene Frankter Haar Syndrome NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with any questions and guide you through the booking process.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: 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 SH3PXD2B gene.
This test is performed in collaboration with specialists in Dermatology, Genetics, and Immunology to ensure the highest quality of care and accurate results.
