ABCA12 Gene Ichthyosis Congenital Harlequin Fetus Type NGS Genetic DNA Test
Introduction
The ABCA12 Gene Ichthyosis Congenital Harlequin Fetus Type NGS Genetic DNA Test is an advanced diagnostic tool designed to identify mutations in the ABCA12 gene, which are responsible for a severe form of ichthyosis known as Harlequin ichthyosis. This condition is characterized by thickened skin, severe dehydration, and life-threatening complications. Early detection through genetic testing is crucial for managing the condition and providing appropriate care.
What the Test Measures
This test employs next-generation sequencing (NGS) technology to detect mutations in the ABCA12 gene. It provides a comprehensive analysis of the gene’s structure, allowing for the identification of specific genetic variations that may lead to Harlequin ichthyosis.
Who Should Consider This Test
Individuals with a family history of ichthyosis or those exhibiting symptoms such as:
- Severe skin dryness and scaling
- Thickened skin at birth
- Severe dehydration
- Increased susceptibility to infections
are encouraged to consider this test. Genetic counseling is recommended to understand the implications of test results.
Benefits of Taking the Test
- Early diagnosis enables timely intervention and management.
- Provides valuable information for family planning and genetic counseling.
- Helps in understanding the prognosis and potential treatment options.
- Facilitates informed decisions regarding care and support.
Understanding Your Results
Test results will indicate whether mutations in the ABCA12 gene are present. A positive result confirms the diagnosis of Harlequin ichthyosis, while a negative result suggests that the individual does not carry the mutations associated with this condition. It is essential to discuss results with a healthcare provider to understand their implications fully.
Test Pricing
| Price Type | Price (NGN) |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 560,000 NGN |
Book the Test
To book the ABCA12 Gene Ichthyosis Congenital Harlequin Fetus Type NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website for more information. Ensure you have a clinical history prepared and consider a genetic counseling session to discuss the implications of the test.
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood
Department: Genetics
Specialty: Dermatology
Method: NGS Technology
Disease Type: Osteology Dermatology Immunology Disorders
