PYCR1 Gene Cutis Laxa Type 2B Autosomal Recessive NGS Genetic DNA Test
Introduction
The PYCR1 Gene Cutis Laxa Type 2B Autosomal Recessive NGS Genetic DNA Test is a state-of-the-art diagnostic tool designed to identify genetic mutations associated with Cutis Laxa, a rare connective tissue disorder. This test is essential for individuals with a family history of the condition, providing critical insights into genetic predispositions and allowing for early intervention and management.
What the Test Measures
This genetic test analyzes the PYCR1 gene, which plays a vital role in collagen production and connective tissue integrity. By utilizing Next Generation Sequencing (NGS) technology, the test detects specific mutations that may lead to Cutis Laxa, offering a comprehensive understanding of a patient’s genetic makeup.
Who Should Consider This Test?
Individuals with the following symptoms or risk factors should consider the PYCR1 Gene Cutis Laxa Type 2B test:
- Family history of Cutis Laxa or related connective tissue disorders.
- Symptoms such as skin laxity, joint hypermobility, or easy bruising.
- Patients seeking genetic counseling or those planning to start a family.
Benefits of Taking the Test
- Early identification of genetic predispositions, allowing for timely intervention.
- Informed family planning decisions based on genetic insights.
- Access to targeted therapies and management options.
- Peace of mind through understanding one’s genetic health.
Understanding Your Results
Results from the PYCR1 Gene Cutis Laxa Type 2B test will indicate whether any mutations are present in the PYCR1 gene. It is essential to discuss these results with a healthcare provider or genetic counselor to understand their implications for health and family planning.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| PYCR1 Gene Cutis Laxa Type 2B Autosomal Recessive NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
Don’t wait to gain clarity about your genetic health. Book the PYCR1 Gene Cutis Laxa Type 2B Autosomal Recessive NGS Genetic DNA Test today. For more information or to schedule your appointment, call or WhatsApp us at +2348077798758.
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 Patient who is going for the test. A Genetic Counselling session to draw a pedigree chart of family members affected with the PYCR1 gene.
- Specialty: Dermatology
- Department: Genetics
- Method: NGS Technology
- Disease Type: Osteology Dermatology Immunology Disorders
