GM2 Gangliosidosis Quantitative Blood Tay Sachs Sandhoff Disease Test
Introduction to the Test
The GM2 Gangliosidosis Quantitative Blood Tay Sachs Sandhoff Disease Test is a vital diagnostic tool used to detect enzyme deficiencies associated with GM2 gangliosidosis, a group of inherited metabolic disorders. These disorders primarily affect the nervous system and can lead to severe neurological impairment. Early diagnosis is crucial for managing symptoms and planning appropriate interventions.
What the Test Measures
This test quantitatively measures the activity of specific enzymes in the blood that are crucial for breaking down certain fatty substances in the body. A deficiency in these enzymes can lead to the accumulation of harmful substances, resulting in severe neurological conditions.
Who Should Consider This Test?
This test is recommended for individuals exhibiting symptoms such as:
- Neurological deterioration
- Developmental delays
- Family history of Tay-Sachs or Sandhoff disease
- Unexplained seizures
- Motor skill deficits
Additionally, it is advised for those with risk factors such as being of Ashkenazi Jewish descent or having a family history of these genetic conditions.
Benefits of Taking the Test
- Early diagnosis of potential genetic disorders
- Informed decision-making for families regarding management and treatment options
- Access to genetic counseling and support
- Improved understanding of health risks
Understanding Your Results
Results from the GM2 Gangliosidosis Test will indicate whether enzyme activity is within normal ranges or if there is a deficiency. A healthcare professional will provide guidance on interpreting these results and discuss potential next steps, including further testing or referrals to specialists.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| GM2 Gangliosidosis Quantitative Blood Tay Sachs Sandhoff Disease Test | 7,000 KSh | 10,000 KSh |
Sample Collection and Turnaround Time
The test requires a sample of 10 mL (7.5 mL min.) whole blood collected in 3 Lavender Top (EDTA) or Green Top (Sodium heparin) tubes. Samples must be shipped refrigerated and should not be frozen. Clinical details must accompany the sample.
Turnaround time for results is approximately 4 days, with samples accepted daily until 4 PM.
Book Your Test
We have branches across Kenya, including major cities like Nairobi, Mombasa, and Kisumu. For your convenience, we also offer home sample collection services. To book the GM2 Gangliosidosis Quantitative Blood Tay Sachs Sandhoff Disease Test, please call or WhatsApp us at +254746849631.
