Myo18B Gene Klippel-Feil Syndrome Type 4 Autosomal Dominant with Myopathy and Facial Dysmorphism NGS Genetic DNA Test
Introduction
The Myo18B Gene Klippel-Feil Syndrome Type 4 Autosomal Dominant with Myopathy and Facial Dysmorphism NGS Genetic DNA Test is an advanced diagnostic tool designed to identify genetic mutations associated with Klippel-Feil syndrome and related conditions. This test is crucial for understanding the genetic basis of myopathy and facial dysmorphism, helping clinicians make informed decisions regarding patient care.
What the Test Measures
This genetic test analyzes the MYO18B gene to detect mutations that may lead to Klippel-Feil syndrome type 4, which is characterized by congenital fusion of cervical vertebrae, myopathy, and distinctive facial features. Using Next Generation Sequencing (NGS) technology, the test provides a comprehensive analysis of the gene to identify any pathogenic variants.
Who Should Consider This Test?
Patients who exhibit symptoms such as:
- Congenital abnormalities of the cervical spine
- Facial dysmorphism
- Myopathy or muscle weakness
Additionally, individuals with a family history of Klippel-Feil syndrome or related genetic disorders should consider this test to assess their risk and receive appropriate counseling.
Benefits of Taking the Test
- Provides clarity on genetic conditions that may affect health.
- Facilitates early intervention and management strategies.
- Informs family planning decisions through genetic counseling.
- Enhances understanding of potential health risks.
Understanding Your Results
Results from the MYO18B Gene Klippel-Feil Syndrome Type 4 test will typically be available within 3 to 4 weeks. A genetic counselor will guide you through the results, explaining any identified mutations and their implications for your health and that of your family.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
Myo18B Gene Klippel-Feil Syndrome Type 4 Autosomal Dominant with Myopathy and Facial Dysmorphism NGS Genetic DNA Test | KSh 40,000 | KSh 56,000 |
Book Your Test Today!
We have branches across Kenya, including major cities like Nairobi, Mombasa, and Kisumu. Our team is dedicated to providing you with the best care and support. For more information or to book your test, please call or WhatsApp us at +254711564616.
Pre-Test Instructions
Before undergoing the MYO18B Gene Klippel-Feil Syndrome Type 4 test, it is essential to have a clinical history prepared. A genetic counseling session is also recommended to draw a pedigree chart of family members affected by the MYO18B gene disorder.
Sample types accepted include blood or extracted DNA, or one drop of blood on an FTA card.
Take the first step towards understanding your genetic health today! Book your MYO18B Gene Klippel-Feil Syndrome Type 4 NGS Genetic DNA Test with us.