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L1CAM Gene MASA syndrome NGS Genetic DNA Test Details
L1CAM Gene and MASA Syndrome: Understanding the Necessity of NGS Genetic DNA Test
Genetic disorders are becoming more common in today's world. With the advancements in medical science, it has become easier to identify the cause of such disorders. One such disorder is MASA syndrome, which is caused by a mutation in the L1CAM gene. The L1CAM gene plays a crucial role in the development of the nervous system. This disorder affects the brain and spinal cord, leading to various symptoms that can be diagnosed through NGS Genetic DNA Test.
What is MASA Syndrome?
MASA syndrome stands for Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs. It is a rare genetic disorder that is caused by a mutation in the L1CAM gene. This disorder affects the development of the nervous system, leading to various symptoms such as intellectual disability, speech impairment, muscle weakness, and abnormal movements.
What is the L1CAM Gene?
The L1CAM gene is located on the X chromosome and is responsible for producing the L1 cell adhesion molecule. This molecule plays a crucial role in the development of the nervous system, as it helps in the formation of axons, which are responsible for transmitting signals between neurons. A mutation in the L1CAM gene can lead to the development of various neurological disorders, including MASA syndrome.
Symptoms of MASA Syndrome
There are various symptoms of MASA syndrome, which include:
- Intellectual disability
- Speech impairment
- Muscle weakness
- Abnormal movements
- Shuffling gait
- Adducted thumbs
Diagnosis of MASA Syndrome
MASA syndrome can be diagnosed through various tests, including NGS Genetic DNA Test. This test involves sequencing the DNA to identify any mutations in the L1CAM gene. Other tests that can be used for diagnosis include MRI, CT scan, and EEG.
NGS Genetic DNA Test
NGS Genetic DNA Test is a high-throughput sequencing technique that can identify mutations in the DNA. This test is useful in identifying genetic disorders such as MASA syndrome. The cost of the NGS Genetic DNA Test for MASA syndrome is around INR 20,000. This test is non-invasive and involves taking a blood sample.
Conclusion
Genetic disorders such as MASA syndrome can have a significant impact on an individual's life. It is essential to identify such disorders early to provide appropriate treatment and support. NGS Genetic DNA Test is a useful tool in identifying such disorders, including MASA syndrome. The cost of the test is affordable, making it accessible to a broader population. If you or anyone you know is experiencing symptoms related to MASA syndrome, it is advisable to undergo NGS Genetic DNA Test for early diagnosis and treatment.
For further information on NGS Genetic DNA Test, you can contact DNA Labs India.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for L1CAM Gene MASA syndrome NGS Genetic DNA Test
