Chr 22q133 Gene Phelan-McDermid Syndrome NGS Genetic DNA Test
Introduction
The Chr 22q133 Gene Phelan-McDermid Syndrome NGS Genetic DNA Test is a cutting-edge diagnostic tool that plays a vital role in identifying genetic abnormalities linked to Phelan-McDermid syndrome. This condition is characterized by developmental delays, intellectual disabilities, and various physical anomalies. By utilizing Next Generation Sequencing (NGS) technology, this test provides comprehensive insights into the genetic makeup of affected individuals, enabling healthcare providers to make informed decisions regarding diagnosis and management.
What the Test Measures
This test specifically detects abnormalities in the 22q13.3 region of the chromosome, which is often associated with Phelan-McDermid syndrome. It analyzes genetic material from blood or extracted DNA to identify potential mutations or deletions that could contribute to the symptoms observed in patients.
Who Should Consider This Test?
Individuals who exhibit symptoms such as developmental delays, speech and language difficulties, behavioral issues, or physical anomalies may benefit from the Chr 22q133 Gene Phelan-McDermid Syndrome NGS Genetic DNA Test. Additionally, family members of diagnosed individuals may consider testing for genetic counseling purposes.
Benefits of Taking the Test
- Accurate identification of genetic mutations associated with Phelan-McDermid syndrome.
- Guidance for treatment options and management strategies based on test results.
- Support for family planning and understanding inheritance patterns.
- Access to specialized care and resources for affected individuals.
Understanding Your Results
Results from the Chr 22q133 Gene Phelan-McDermid Syndrome NGS Genetic DNA Test can provide critical information regarding the presence of genetic abnormalities. A genetic counselor will assist in interpreting the results, discussing their implications, and outlining potential next steps for care and support.
Test Name and Pricing
| Price Type | Amount (KSh) |
|---|---|
| Discount Price | 40,000 |
| Regular Price | 56,000 |
Book Your Test Today
We have branches across all major cities in Kenya, including Nairobi, Mombasa, and Kisumu, and we also offer a convenient home sample collection service. Don’t wait to get the answers you need for your health or that of your loved ones. Call or WhatsApp us at +254711564616 to book your test today!
Pre-Test Instructions
Before undergoing the Chr 22q133 Gene Phelan-McDermid Syndrome NGS Genetic DNA Test, patients are advised to undergo a genetic counseling session. This session will help in drawing a pedigree chart of family members affected by the syndrome and ensure that all clinical histories are accurately documented.
Turnaround Time and Sample Type
The turnaround time for results is approximately 3 to 4 weeks. Samples can be collected via blood, extracted DNA, or even a single drop of blood on an FTA card.
In summary, the Chr 22q133 Gene Phelan-McDermid Syndrome NGS Genetic DNA Test is an essential tool for understanding genetic conditions and providing the necessary support for affected individuals and families.
