Short Description

NGS genetic DNA test detecets for variant and mutation detection in KCNMA1 gene for Generalized epilepsy and paroxysmal dyskinesia

PreTest Information

Clinical History of Patient who is going for KCNMA1 Gene Generalized epilepsy and paroxysmal dyskinesia NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with KCNMA1 Gene Generalized epilepsy and paroxysmal dyskinesia

Detail Description

KCNMA1 Gene Generalized Epilepsy and Paroxysmal Dyskinesia NGS Genetic DNA Test

KCNMA1 gene is responsible for encoding the α subunit of the BK channel, which is a potassium channel that plays a crucial role in regulating the excitability of neurons. Mutations in this gene have been linked to various neurological disorders, including generalized epilepsy and paroxysmal dyskinesia.

Symptoms of Generalized Epilepsy and Paroxysmal Dyskinesia

Generalized epilepsy is a type of seizure disorder that affects both sides of the brain. People with this condition may experience a variety of seizure types, including absence seizures, tonic-clonic seizures, and myoclonic seizures. Symptoms may include:

• Loss of consciousness
• Jerking movements in the arms and legs
• Staring spells
• Confusion

Paroxysmal dyskinesia is a movement disorder that causes episodes of involuntary muscle contractions. Symptoms may include:

• Jerking movements in the arms and legs
• Involuntary muscle contractions in the face, tongue, and jaw
• Difficulty speaking or swallowing
• Tremors

Diagnosis

Diagnosis of KCNMA1 gene-related disorders typically involves a combination of clinical evaluation, genetic testing, and imaging studies. A doctor may perform a neurological exam to assess the patient's symptoms and look for signs of seizure activity. Genetic testing may be used to identify mutations in the KCNMA1 gene. Imaging studies, such as an EEG or MRI, may be used to assess brain function and rule out other possible causes of the patient's symptoms.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for KCNMA1 gene-related disorders typically ranges from INR 20,000 to INR 30,000. This may vary depending on the specific testing provider and the complexity of the test.

Conclusion

KCNMA1 gene-related disorders can cause a variety of neurological symptoms, including generalized epilepsy and paroxysmal dyskinesia. Diagnosis typically involves a combination of clinical evaluation, genetic testing, and imaging studies. NGS genetic DNA testing can provide valuable information about the presence of KCNMA1 gene mutations and help guide treatment decisions. If you or a loved one is experiencing symptoms of a neurological disorder, it is important to seek medical attention as soon as possible.

For more information about KCNMA1 gene-related disorders and NGS genetic DNA testing, contact DNA Labs India today.

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 KCNMA1 Gene Generalized epilepsy and paroxysmal dyskinesia NGS Genetic DNA Test