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Parameters

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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 Angelman Syndrome Test By MLPA is typically 10-14 business days. However, the exact turnaround time may vary depending on the testing laboratory and other factors.

What are the prerequisites for the test Angelman Syndrome Test By MLPA

  • Sample: DNA extracted from peripheral blood
  • Refrigerated whole blood samples are acceptable if received within 24 hours of collection
  • Specimen stability: Stable at room temperature for up to 8 hours
  • Specimen storage: Stable at 2-8°C for up to 5 days
  • Ship refrigerated

What are the measure values for the test Angelman Syndrome Test By MLPA

  • Deletion of 15q11.2-q13.1 region
  • Uniparental disomy (UPD) of chromosome 15
  • Imprinting defects
  • Mutation or deletion in UBE3A gene

What does this test Angelman Syndrome Test By MLPA identify?

This test, Angelman Syndrome Test by MLPA, identifies genetic abnormalities associated with Angelman syndrome. It uses Multiplex Ligation-dependent Probe Amplification (MLPA) technology to detect deletions, duplications, or other mutations in the chromosome 15q11-q13 region, which are known to cause Angelman syndrome.

Why is this test Angelman Syndrome Test By MLPA taken?

Angelman Syndrome Test By MLPA

Why is this test taken?

Angelman Syndrome Test By MLPA is taken to diagnose Angelman Syndrome, a genetic disorder that affects the nervous system. This test is used to detect any abnormalities or deletions in the UBE3A gene, which is responsible for causing Angelman Syndrome.

Individuals who exhibit symptoms of Angelman Syndrome, such as developmental delays, speech impairments, and seizures, may be recommended to undergo this test to confirm the diagnosis. Early diagnosis of Angelman Syndrome can help in providing appropriate medical care and intervention for affected individuals.

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