GUSB Gene Mucopolysaccharidosis Type 7 NGS Genetic DNA Test
The GUSB Gene Mucopolysaccharidosis Type 7 NGS Genetic DNA Test is a vital diagnostic tool that helps identify genetic mutations associated with Mucopolysaccharidosis Type 7 (MPS VII), a rare metabolic disorder. This test employs Next-Generation Sequencing (NGS) technology to provide accurate and comprehensive insights into a patient’s genetic makeup, facilitating early diagnosis and management of this condition.
What the Test Measures/Detects
This genetic test evaluates the GUSB gene, which is responsible for producing the enzyme beta-glucuronidase. A deficiency in this enzyme leads to the accumulation of glycosaminoglycans (GAGs) in the body, causing various health issues. The GUSB Gene Mucopolysaccharidosis Type 7 NGS Genetic DNA Test detects mutations in the GUSB gene, confirming or ruling out the presence of MPS VII.
Who Should Consider This Test
Individuals who exhibit symptoms such as skeletal abnormalities, organ enlargement, or developmental delays should consider this test. Additionally, those with a family history of MPS VII or related metabolic disorders are encouraged to undergo testing. Risk factors include:
- Family history of Mucopolysaccharidosis
- Presence of unexplained developmental delays
- Symptoms of skeletal or organ abnormalities
Benefits of Taking the Test
The GUSB Gene Mucopolysaccharidosis Type 7 NGS Genetic DNA Test offers several benefits:
- Accurate diagnosis of MPS VII, enabling timely intervention.
- Informed decision-making regarding treatment and management options.
- Assessment of risk for family members and future generations.
- Access to genetic counseling for better understanding and support.
Understanding Your Results
Upon receiving your test results, a healthcare professional will guide you through the findings. Positive results indicate the presence of mutations in the GUSB gene, confirming a diagnosis of MPS VII. Negative results suggest the absence of these mutations, but further clinical evaluation may be necessary based on symptoms.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| GUSB Gene Mucopolysaccharidosis Type 7 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
Don’t wait any longer to understand your genetic health. Book the GUSB Gene Mucopolysaccharidosis Type 7 NGS Genetic DNA Test today! For more information or to schedule your appointment, please call or WhatsApp us at +2348077798758.
Turnaround time for results is approximately 3 to 4 weeks. The sample type required for this test can be blood, extracted DNA, or one drop of blood on an FTA card. Prior to testing, a clinical history and a genetic counseling session to draw a pedigree chart of affected family members is recommended.
