ASS1 Gene Citrullinemia NGS Genetic DNA Test
Introduction
The ASS1 Gene Citrullinemia NGS Genetic DNA Test is a vital diagnostic tool designed to detect mutations in the ASS1 gene, which are associated with Citrullinemia, a rare metabolic disorder. This test utilizes Next-Generation Sequencing (NGS) technology to provide accurate results, enabling healthcare providers to make informed decisions regarding patient care.
What the Test Measures
This genetic test specifically measures the presence of mutations in the ASS1 gene, which plays a crucial role in the urea cycle. By identifying these mutations, the test helps in diagnosing Citrullinemia, thereby allowing for timely intervention and management of the condition.
Who Should Consider This Test?
This test is recommended for individuals who exhibit symptoms of Citrullinemia, such as:
- Severe neurological symptoms
- Failure to thrive in infants
- Recurrent vomiting
- Confusion or lethargy
Additionally, individuals with a family history of metabolic disorders should consider this test to assess their risk.
Benefits of Taking the Test
- Early diagnosis of Citrullinemia, allowing for prompt treatment.
- Informed family planning for those with a genetic predisposition.
- Access to specialized care and management options.
- Peace of mind for patients and families regarding genetic risks.
Understanding Your Results
Results from the ASS1 Gene Citrullinemia NGS Genetic DNA Test will indicate whether mutations are present in the ASS1 gene. A genetic counseling session is advised to help interpret the results and discuss potential implications for the patient and their family.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| ASS1 Gene Citrullinemia NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Sample Type and Turnaround Time
The sample type required for this test includes:
- Blood
- Extracted DNA
- One drop of blood on FTA Card
The expected turnaround time for results is approximately 3 to 4 weeks.
Pre-Test Instructions
Prior to taking the ASS1 Gene Citrullinemia NGS Genetic DNA Test, patients should provide a detailed clinical history. It is also recommended to undergo a genetic counseling session to draw a pedigree chart of family members affected by Citrullinemia.
Book Your Test Today!
We have branches across all major cities in Kenya, and we also offer a home sample collection service for your convenience. To book the ASS1 Gene Citrullinemia NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
