COL11A1 Gene Fibrochondrogenesis Type 1 NGS Genetic DNA Test
Introduction
The COL11A1 Gene Fibrochondrogenesis Type 1 NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify genetic mutations associated with fibrochondrogenesis, a rare connective tissue disorder. By utilizing Next Generation Sequencing (NGS) technology, this test provides accurate and comprehensive insights into the genetic factors contributing to dysmorphology and skeletal abnormalities.
Importance of the Test
Understanding the genetic basis of fibrochondrogenesis is crucial for effective management and support for affected individuals and their families. Early diagnosis can facilitate timely interventions, genetic counseling, and informed family planning.
What the Test Measures
This test specifically detects mutations in the COL11A1 gene, which plays a vital role in the formation of collagen, a key structural protein in connective tissues. By analyzing the gene’s sequence, we can identify pathogenic variants that may lead to fibrochondrogenesis type 1.
Who Should Consider This Test?
Individuals exhibiting symptoms related to skeletal abnormalities, such as:
- Unusual facial features
- Joint deformities
- Short stature
- Hearing loss
Families with a history of connective tissue disorders or dysmorphology should also consider this test for comprehensive genetic evaluation.
Benefits of Taking the Test
- Provides clarity regarding genetic conditions affecting family members.
- Facilitates informed decision-making regarding treatment options.
- Offers insights for family planning and potential future pregnancies.
- Enables access to specialized care and support services.
Understanding Your Results
Results from the COL11A1 Gene Fibrochondrogenesis Type 1 NGS Genetic DNA Test will be interpreted by our genetic specialists. They will provide guidance on the implications of the findings, including potential health risks and necessary follow-up actions.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| COL11A1 Gene Fibrochondrogenesis Type 1 NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Sample Type and Turnaround Time
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card.
Turnaround Time: 3 to 4 Weeks.
Pre-Test Instructions
Patients are advised to undergo a genetic counseling session to draw a pedigree chart of family members affected by COL11A1 gene mutations prior to testing. This clinical history is crucial for accurate interpretation of results.
Book Your Test Today!
We have branches across Kenya, including Nairobi, Mombasa, and Kisumu, and offer a convenient home sample collection service. Don’t wait—take the first step towards understanding your genetic health. Call or WhatsApp us at +254711564616 to book your COL11A1 Gene Fibrochondrogenesis Type 1 NGS Genetic DNA Test today!
