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Accurate Test Results for CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia NGS Genetic DNA Test
CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia NGS Genetic DNA Test Cost 20000 Rs
CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia NGS Genetic DNA Test Details
CASK Gene Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis
At DNA Labs India, we offer cutting-edge NGS genetic DNA testing for a wide range of genetic disorders, including CASK gene mental retardation and microcephaly with pontine and cerebellar hypoplasia. This test can help diagnose and understand the underlying genetic causes of these disorders, allowing for more effective treatment and management.
What is CASK Gene Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia?
CASK gene mental retardation and microcephaly with pontine and cerebellar hypoplasia is a rare genetic disorder that affects brain development. It is caused by mutations in the CASK gene, which provides instructions for making a protein that plays a critical role in the formation and function of synapses, the junctions between nerve cells in the brain.
Individuals with this disorder typically have intellectual disability, delayed speech and language development, and microcephaly, a condition in which the head is smaller than normal. They may also have seizures, muscle weakness, and difficulty with coordination and balance due to pontine and cerebellar hypoplasia, which is a condition in which the pons and cerebellum, two parts of the brain that control movement and coordination, are smaller than normal.
Symptoms of CASK Gene Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia
The symptoms of CASK gene mental retardation and microcephaly with pontine and cerebellar hypoplasia can vary widely from person to person, but may include:
- Intellectual disability
- Delayed speech and language development
- Microcephaly
- Seizures
- Muscle weakness
- Difficulty with coordination and balance
Diagnosis of CASK Gene Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia
Diagnosis of CASK gene mental retardation and microcephaly with pontine and cerebellar hypoplasia typically involves a combination of clinical evaluation, imaging studies, and genetic testing. Imaging studies, such as magnetic resonance imaging (MRI), can help identify the characteristic features of pontine and cerebellar hypoplasia.
Genetic testing, such as our NGS genetic DNA test, can identify mutations in the CASK gene that are associated with this disorder. This information can help confirm the diagnosis and provide valuable information for genetic counseling and family planning.
NGS Genetic DNA Test Cost and Process
At DNA Labs India, our NGS genetic DNA test for CASK gene mental retardation and microcephaly with pontine and cerebellar hypoplasia costs INR 20000. The process is simple and non-invasive, involving a blood or saliva sample that is sent to our state-of-the-art laboratory for analysis.
Our team of experienced geneticists and genetic counselors will work with you to interpret the results of the test and provide guidance on the best course of action. We are committed to providing the highest level of care and support to our patients and their families.
Conclusion
CASK gene mental retardation and microcephaly with pontine and cerebellar hypoplasia is a rare genetic disorder that can have a significant impact on a person's quality of life. Our NGS genetic DNA test can help diagnose and understand the underlying genetic causes of this disorder, allowing for more effective treatment and management. If you or a loved one are experiencing symptoms of CASK gene mental retardation and microcephaly with pontine and cerebellar hypoplasia, contact DNA Labs India today to learn more about our testing options.
