EFEMP2 Gene Cutis Laxa Type 1B Autosomal Recessive NGS Genetic DNA Test
Introduction
The EFEMP2 Gene Cutis Laxa Type 1B Autosomal Recessive NGS Genetic DNA Test is a specialized diagnostic tool used to identify mutations in the EFEMP2 gene, which are responsible for Cutis Laxa, a rare genetic disorder characterized by skin laxity. Understanding this condition is crucial for early diagnosis, management, and family planning.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to detect specific mutations in the EFEMP2 gene. It provides a comprehensive analysis of the genetic makeup associated with Cutis Laxa, enabling healthcare providers to make informed decisions regarding patient care.
Who Should Consider This Test?
Individuals exhibiting symptoms such as:
- Loose, sagging skin
- Joint hypermobility
- Ear deformities
- Family history of Cutis Laxa
Those with a family history of genetic disorders or who have undergone genetic counseling should also consider this test.
Benefits of Taking the Test
- Early diagnosis of genetic conditions
- Informed family planning and risk assessment
- Guidance for appropriate management and treatment options
- Access to specialized care and support services
Understanding Your Results
Results from the EFEMP2 Gene Cutis Laxa Type 1B test will indicate whether mutations are present in the EFEMP2 gene. A genetic counselor will help interpret the findings and discuss the implications for you and your family.
Test Pricing
| Test Name | Discount Price (KSh) | Regular Price (KSh) |
|---|---|---|
| EFEMP2 Gene Cutis Laxa Type 1B Autosomal Recessive NGS Genetic DNA Test | 40,000 | 56,000 |
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 the patient and a genetic counseling session to draw a pedigree chart of affected family members.
Book Your Test Today
We have branches across Kenya, including Nairobi, Mombasa, and Kisumu, and offer home sample collection services. To book your EFEMP2 Gene Cutis Laxa Type 1B Autosomal Recessive NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
