GALC Gene Krabbe Disease NGS Genetic DNA Test
Introduction
The GALC Gene Krabbe Disease NGS Genetic DNA Test is a vital diagnostic tool designed to detect genetic mutations associated with Krabbe disease, a rare and severe metabolic disorder. This test utilizes Next Generation Sequencing (NGS) technology to analyze the GALC gene, which is crucial for the metabolism of certain lipids in the body. Early diagnosis through this test can significantly impact the management and treatment options available for affected individuals.
What the Test Measures
This test specifically measures mutations in the GALC gene that can lead to Krabbe disease. By identifying these mutations, healthcare providers can better understand the likelihood of developing the disease and recommend appropriate interventions.
Who Should Consider This Test
Individuals or families with a known history of Krabbe disease or metabolic disorders should consider the GALC Gene Krabbe Disease NGS Genetic DNA Test. Symptoms that may indicate the need for testing include:
- Developmental delays
- Loss of motor skills
- Severe irritability
- Seizures
- Hypotonia (decreased muscle tone)
Risk factors include family history and genetic predisposition, making this test essential for proactive healthcare management.
Benefits of Taking the Test
- Early diagnosis can lead to timely interventions.
- Informed family planning decisions for at-risk families.
- Access to specialized care and support.
- Peace of mind through understanding genetic risks.
Understanding Your Results
Results from the GALC Gene Krabbe Disease NGS Genetic DNA Test will provide insight into whether any GALC gene mutations are present. Positive results may indicate a higher risk of developing Krabbe disease, while negative results can help rule out the condition. It is essential to discuss your results with a healthcare provider for proper interpretation and guidance.
Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| GALC Gene Krabbe Disease NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Branches and Booking
We have branches across Kenya and offer a convenient home sample collection service. To book the GALC Gene Krabbe Disease NGS Genetic DNA Test, please call or WhatsApp us at +254711564616. Take the first step towards understanding your genetic health today!
Turnaround time for results is approximately 3 to 4 weeks. Sample types accepted include blood, extracted DNA, or one drop of blood on an FTA card. Prior to testing, a clinical history and genetic counseling session is recommended to draw a pedigree chart of family members affected by Krabbe disease.
