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Reports Within

Parameters

Reports Within:

Parameter Include:

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

Test Name:
Clinical Exome Sequencing (CES) Test - Mitochondrial
Maximum Days for Report:
30 days

What are the prerequisites for the test Clinical Exome Sequencing (CES) Test - Mitochondrial

  • Patient must have a suspected or confirmed mitochondrial disorder
  • Written informed consent from the patient or legal guardian
  • Completed test requisition form
  • Payment or insurance coverage for the test

What are the measure values for the test Clinical Exome Sequencing (CES) Test - Mitochondrial

  • Test Name: Clinical Exome Sequencing (CES) Test - Mitochondrial
  • Measure Values:
    • Test Sensitivity: 99%
    • Test Specificity: 98%
    • Positive Predictive Value: 95%
    • Negative Predictive Value: 99%

What does this test Clinical Exome Sequencing (CES) Test - Mitochondrial identify?

  • Identifies genetic variants in the exome, which is the protein-coding portion of the genome
  • Specifically focuses on mitochondrial genes, which are responsible for energy production within cells
  • Detects mutations that may cause mitochondrial diseases, such as Leigh syndrome or mitochondrial myopathy
  • Helps in diagnosing and managing patients with suspected mitochondrial disorders
  • Can provide information on disease prognosis, recurrence risk, and potential treatment options

Why is this test Clinical Exome Sequencing (CES) Test - Mitochondrial taken?

Test: Clinical Exome Sequencing (CES) Test - Mitochondrial

Reasons for taking the test:

  • Identification of genetic variations in the mitochondrial genome that may be causing symptoms or diseases
  • Diagnosis of mitochondrial disorders
  • Detection of mutations in genes related to mitochondrial function
  • Evaluation of patients with suspected mitochondrial diseases

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