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Measures

Number of red blood cells in the blood

Identifies

Red blood cell disorders

Measures: Number of red blood cells in the blood

Identifies: Red blood cell disorders

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What is the maximum days the report can be obtained for the test

The maximum days the report can be obtained for the test Benign Infantile Epilepsy Gene Panel is 21 days.

What are the prerequisites for the test Benign Infantile Epilepsy Gene Panel

  • Age: Patients should be under 2 years of age
  • Clinical symptoms of benign infantile epilepsy
  • Written informed consent from the patient or legal guardian
  • Requisition form filled out completely and accurately

What are the measure values for the test Benign Infantile Epilepsy Gene Panel

Gene Measure Reference Range Interpretation
KCNQ2 Variants detected Reported Positive
KCNQ2 No variants detected Reported Negative

What does this test Benign Infantile Epilepsy Gene Panel identify?

Benign Infantile Epilepsy Gene Panel

This test identifies mutations in specific genes that are associated with Benign Infantile Epilepsy (BIE). BIE is a rare form of epilepsy that typically presents in infancy and is characterized by seizures that are usually brief and easily controlled with medication.

The gene panel includes analysis of genes known to be involved in BIE, such as KCNQ2, KCNQ3, SCN2A, and SCN8A. Mutations in these genes can disrupt the normal functioning of ion channels in the brain, leading to abnormal electrical activity and seizures.

By identifying mutations in these genes, healthcare providers can confirm a diagnosis of BIE, guide treatment decisions, and provide genetic counseling to affected individuals and their families.

Why is this test Benign Infantile Epilepsy Gene Panel taken?

  • Benign Infantile Epilepsy Gene Panel Test:

  • This test is taken to identify genetic mutations associated with benign infantile epilepsy. Benign infantile epilepsy is a rare type of epilepsy that typically presents in infancy and is characterized by seizures that are generally mild and easily controlled with medication.

  • By conducting this gene panel test, healthcare providers can determine if a child's epilepsy is due to a specific genetic mutation. This information can be crucial in guiding treatment decisions and providing families with more accurate prognostic information.

  • Furthermore, identifying the genetic cause of benign infantile epilepsy can also help in genetic counseling and family planning, as it allows for early detection and intervention in at-risk family members.

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