ATP7A Gene Menkes Disease NGS Genetic DNA Test
Introduction
The ATP7A Gene Menkes Disease NGS Genetic DNA Test is a vital diagnostic tool that identifies mutations in the ATP7A gene, which are responsible for Menkes disease. This genetic disorder affects copper metabolism, leading to severe neurological and developmental issues if left untreated. Early detection through this test is crucial for effective management and treatment, making it an essential service for families with a history of genetic disorders.
What the Test Measures
This test specifically measures the presence of mutations in the ATP7A gene. By utilizing Next-Generation Sequencing (NGS) technology, it provides a comprehensive analysis of the genetic material, allowing healthcare providers to understand the underlying genetic factors contributing to Menkes disease.
Who Should Consider This Test?
Individuals who exhibit symptoms of Menkes disease or have a family history of this condition should consider undergoing the ATP7A Gene Menkes Disease NGS Genetic DNA Test. Symptoms may include:
- Developmental delays
- Neurological issues
- Hypotonia (decreased muscle tone)
- Seizures
Additionally, individuals with risk factors related to copper metabolism disorders are encouraged to seek this test.
Benefits of Taking the Test
- Early Diagnosis: Allows for timely intervention and management of Menkes disease.
- Informed Treatment Options: Provides insights that can guide treatment strategies.
- Family Planning: Helps families understand genetic risks and make informed decisions.
Understanding Your Results
Results from the ATP7A Gene Menkes Disease NGS Genetic DNA Test will indicate whether any mutations are present in the ATP7A gene. A genetic counseling session is recommended to help interpret these results and discuss potential implications for treatment and family planning.
Test Price Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| ATP7A Gene Menkes Disease NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
To schedule your ATP7A Gene Menkes Disease NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website to book online. Take the first step towards understanding your genetic health today!
Turnaround time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-test Instructions: A clinical history of the patient going for the ATP7A Gene Menkes Disease NGS Genetic DNA Test and a genetic counseling session to draw a pedigree chart of family members affected with the ATP7A gene.
Specialty: General Physician, Department: Genetics, Method: NGS Technology, Disease Type: Hepatology Nephrology Endocrinology Disorders
