The ABCA12 Gene Ichthyosis Congenital Harlequin Fetus Type NGS Genetic DNA Test is a crucial diagnostic tool that helps identify genetic mutations associated with Harlequin Ichthyosis. This test is essential for individuals with a family history of this condition or those showing symptoms. Priced at 40,000 KSh, it offers significant insights into genetic disorders, helping patients and families make informed health decisions.
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ABCA12 Gene Ichthyosis Congenital Harlequin Fetus Type Genetic Test
Genetic Testing
ABCA12 Gene Ichthyosis Congenital Harlequin Fetus Type Genetic Test
KSh 56,000.00
Regular price
KSh 47,600.00
Current price
-15%
What Is the ABCA12 Gene Ichthyosis Congenital Harlequin Fetus Type Genetic Test?
The ABCA12 Gene Ichthyosis Congenital Harlequin Fetus Type NGS Genetic DNA Test is a state-of-the-art diagnostic tool that utilizes Next Generation Sequencing (NGS) technology to identify mutations in the ABCA12 gene. This genetic disorder is characterized by severe skin abnormalities and is known as Harlequin Ichthyosis. Early diagnosis is crucial for effective management and treatment of the condition.
Who Should Consider This Test?
- Individuals with a family history of Harlequin Ichthyosis or other genetic skin disorders.
- Parents expecting a child with signs of congenital skin abnormalities.
- Individuals displaying symptoms consistent with ichthyosis, such as dry, scaly skin.
What Does the Test Detect or Measure?
This test specifically detects mutations in the ABCA12 gene, which is responsible for lipid transport in skin cells. By analyzing the genetic material from a blood sample, the test provides insights into whether an individual carries mutations that may lead to Harlequin Ichthyosis.
What the Results May Show
Results from the ABCA12 Gene Ichthyosis test will indicate the presence or absence of mutations in the ABCA12 gene. A positive result may suggest a higher risk of developing Harlequin Ichthyosis, while a negative result may provide reassurance. It is important to discuss your results with a genetic counselor or healthcare provider to understand their implications fully.
Benefits or Clinical Value
- Early identification of genetic risks associated with Harlequin Ichthyosis.
- Informed decision-making for family planning and management.
- Access to specialized care and treatment options tailored to genetic findings.
- Genetic counseling can provide support and guidance based on test results.
Pricing
| Test Name | Current Price | Regular Price |
|---|---|---|
| ABCA12 Gene Ichthyosis Congenital Harlequin Fetus Type Genetic Test | KSh 47,600.00 | KSh 56,000.00 |
Book the ABCA12 Gene Ichthyosis Congenital Harlequin Fetus Type Genetic Test
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SKU: a1f0cf94512f | Category: Genetic Testing