PYCR1 Gene Cutis Laxa Type 2B Autosomal Recessive NGS Genetic DNA Test
Introduction to the Test
The PYCR1 Gene Cutis Laxa Type 2B Autosomal Recessive NGS Genetic DNA Test is a significant diagnostic tool used to identify mutations in the PYCR1 gene, which is associated with cutis laxa, a connective tissue disorder. This condition is characterized by loose, sagging skin and can lead to various complications affecting the skin, bones, and internal organs. Early diagnosis through this genetic test is crucial for managing symptoms and providing appropriate care.
What the Test Measures
This genetic test specifically detects mutations in the PYCR1 gene, which can lead to autosomal recessive cutis laxa type 2B. By analyzing the genetic material from a blood sample or extracted DNA, healthcare providers can determine if an individual has inherited the mutations associated with this disorder.
Who Should Consider This Test
Individuals who may benefit from the PYCR1 Gene Cutis Laxa Type 2B test include:
- Patients displaying symptoms of cutis laxa, such as loose skin and joint hypermobility.
- Individuals with a family history of genetic disorders, especially those related to connective tissues.
- Patients undergoing genetic counseling for inherited conditions.
Benefits of Taking the Test
Taking the PYCR1 Gene Cutis Laxa test offers several benefits:
- Accurate diagnosis of potential genetic disorders.
- Informed decision-making regarding treatment options.
- Guidance for family planning and understanding hereditary risks.
- Access to specialized care from dermatologists and geneticists.
Understanding Your Results
After completing the test, results will typically be available within 3 to 4 weeks. A healthcare professional will guide you through the interpretation of your results. Understanding whether you carry the PYCR1 mutation can help in managing health proactively and can inform treatment options.
Test Name and Pricing
| Test Name | Discount Price (KSh) | Regular Price (KSh) |
|---|---|---|
| PYCR1 Gene Cutis Laxa Type 2B Autosomal Recessive NGS Genetic DNA Test | 40,000 | 56,000 |
Branches and Booking
We have branches across all major cities in Kenya, making it convenient for you to access our services. We also offer home sample collection for your convenience. To book your test or for more information, please call or WhatsApp us at +254711564616. Don’t wait; take the first step towards understanding your genetic health today!
