PHF6 Gene Borjeson-Forssman-Lehmann Syndrome NGS Genetic DNA Test
Introduction
The PHF6 Gene Borjeson-Forssman-Lehmann Syndrome NGS Genetic DNA Test is a specialized diagnostic tool that utilizes Next Generation Sequencing (NGS) technology to identify mutations in the PHF6 gene, which are associated with Borjeson-Forssman-Lehmann syndrome. This syndrome is a rare genetic disorder characterized by neurological symptoms such as developmental delay, intellectual disability, and other neurological disorders. Early and accurate diagnosis through this test is vital for appropriate management and intervention.
What the Test Measures
This test specifically detects mutations in the PHF6 gene, which can help confirm a diagnosis of Borjeson-Forssman-Lehmann syndrome. By analyzing the genetic material from blood or extracted DNA, the test provides valuable insights into the genetic underpinnings of the disorder.
Who Should Consider This Test?
Individuals who may benefit from the PHF6 Gene Borjeson-Forssman-Lehmann Syndrome NGS Genetic DNA Test include:
- Patients with developmental delays and intellectual disabilities.
- Individuals with a family history of Borjeson-Forssman-Lehmann syndrome.
- Patients exhibiting symptoms related to neurological disorders.
Consultation with a neurologist or genetic counselor is recommended prior to testing.
Benefits of Taking the Test
- Early diagnosis can lead to timely interventions and management strategies.
- Understanding genetic risks can inform family planning decisions.
- Provides clarity for patients and families regarding the nature of the disorder.
- Access to tailored therapies and support services based on genetic findings.
Understanding Your Results
Results from the PHF6 Gene Borjeson-Forssman-Lehmann Syndrome NGS Genetic DNA Test will be interpreted by qualified healthcare professionals. A positive result indicates the presence of mutations in the PHF6 gene, confirming a diagnosis of Borjeson-Forssman-Lehmann syndrome. A negative result can provide reassurance but does not completely rule out the disorder, especially if symptoms are present. Discussing results with a genetic counselor or neurologist is crucial for understanding the implications.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| PHF6 Gene Borjeson-Forssman-Lehmann Syndrome NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book the Test
To book the PHF6 Gene Borjeson-Forssman-Lehmann Syndrome NGS Genetic DNA Test, please contact us at +2348110567037. Our team is ready to assist you with scheduling and any questions you may have.
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 and a genetic counseling session to draw a pedigree chart of family members affected with PHF6 Gene Borjeson-Forssman-Lehmann syndrome are recommended.
