SLC7A7 Gene Lysinuric Protein Intolerance NGS Genetic DNA Test
Introduction
The SLC7A7 Gene Lysinuric Protein Intolerance NGS Genetic DNA Test is a vital diagnostic tool designed to identify lysinuric protein intolerance, a rare inherited metabolic disorder. This condition arises from mutations in the SLC7A7 gene, which plays a critical role in the transport of certain amino acids in the body. By utilizing Next Generation Sequencing (NGS) technology, this test provides a comprehensive analysis of the SLC7A7 gene, allowing for accurate diagnosis and management of the disorder.
What the Test Measures
This genetic test specifically detects mutations in the SLC7A7 gene, which are responsible for lysinuric protein intolerance. It helps in understanding how these mutations affect amino acid transport and metabolism, leading to various clinical symptoms.
Who Should Consider This Test
Individuals who may benefit from this test include:
- Patients exhibiting symptoms of lysinuric protein intolerance, such as growth retardation, neurological issues, and metabolic disturbances.
- Family members of diagnosed individuals, to assess genetic risk.
- Individuals with a family history of the condition.
Benefits of Taking the Test
The SLC7A7 Gene Lysinuric Protein Intolerance NGS Genetic DNA Test offers several advantages:
- Accurate diagnosis of lysinuric protein intolerance.
- Informed decision-making regarding treatment and management options.
- Early intervention can lead to better health outcomes.
- Genetic counseling for affected families.
Understanding Your Results
Once the test is completed, results will be interpreted by qualified healthcare professionals. They will provide guidance on the implications of the findings and potential next steps. It is essential to discuss results with a genetic counselor, especially if mutations are detected.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 560,000 NGN |
Book the Test
To book the SLC7A7 Gene Lysinuric Protein Intolerance NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling and any inquiries you may have.
Additional Information
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 is required, along with a genetic counseling session to draw a pedigree chart of family members affected by the SLC7A7 gene.
This test is conducted under the specialties of General Physician, within the Genetics department, and utilizes NGS technology to diagnose disorders related to Hepatology, Nephrology, and Endocrinology.
