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Requisites
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 for obtaining the report for the Congenital Myasthenic Syndrome Test is 14 days.

What are the prerequisites for the test Congenital Myasthenic Syndrome Test

  • There are no specific prerequisites for the Congenital Myasthenic Syndrome Test. However, it is recommended to consult with a healthcare provider before taking the test.
  • Patients should provide a detailed medical history, including any symptoms they may be experiencing.
  • Prior genetic testing results, if available, should be provided to the healthcare provider.
  • Patients may be asked to undergo a physical examination to assess muscle weakness and other symptoms associated with Congenital Myasthenic Syndrome.
  • It is important to follow any specific instructions provided by the healthcare provider or testing facility before taking the test.

What are the measure values for the test Congenital Myasthenic Syndrome Test

Measure Value
Acetylcholine Receptor Antibody Normal: <0.4 nmol/L
Muscle-Specific Tyrosine Kinase Antibody Normal: <0.4 nmol/L
Repetitive Nerve Stimulation Normal: >100% increase in amplitude with 20 Hz stimulation
Single Fiber Electromyography Normal: <15% jitter

What does this test Congenital Myasthenic Syndrome Test identify?

Test: Congenital Myasthenic Syndrome Test

The Congenital Myasthenic Syndrome Test is a diagnostic test that identifies mutations in genes associated with congenital myasthenic syndrome (CMS). CMS is a group of inherited neuromuscular disorders that affect the communication between nerves and skeletal muscles, leading to muscle weakness and fatigue.

The test specifically looks for mutations in genes that encode proteins involved in the structure and function of the neuromuscular junction, such as acetylcholine receptors, cholinesterases, and proteins involved in synaptic transmission. Identification of these mutations can help confirm a diagnosis of CMS and guide appropriate treatment strategies.

Why is this test Congenital Myasthenic Syndrome Test taken?

Congenital Myasthenic Syndrome Test is taken to diagnose a group of inherited neuromuscular disorders that result in muscle weakness and fatigue. This test is usually recommended when a person presents with symptoms such as muscle weakness, drooping eyelids, difficulty speaking or swallowing, and fatigue after physical activity. The test helps in identifying the specific genetic mutations causing the syndrome, which can guide treatment and management strategies. It can also help in providing genetic counseling to family members who may be at risk of inheriting the condition.

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