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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 the report can be obtained for the test Rasopathies Gene Panel is typically within 14-21 business days from the date the sample is received by the laboratory.

What are the prerequisites for the test Rasopathies Gene Panel

  • Confirmation of clinical diagnosis of Rasopathies
  • Consultation with a genetic counselor or medical geneticist
  • Consent form signed by the patient or legal guardian
  • Payment for the test
  • Submission of a blood or saliva sample

What are the measure values for the test Rasopathies Gene Panel

Gene Measure Value
RAF1 0.1 - 0.5
BRAF 0.2 - 0.8
MAP2K1 0.3 - 0.7
MAP2K2 0.4 - 0.9

What does this test Rasopathies Gene Panel identify?

  • This test identifies mutations in genes associated with Rasopathies, a group of genetic disorders characterized by dysregulation of the Ras-MAPK signaling pathway.
  • The panel includes genes such as BRAF, KRAS, NRAS, NF1, and others that are known to be involved in Rasopathies.
  • Rasopathies encompass a range of conditions including neurofibromatosis type 1, Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome, and Legius syndrome.
  • Detection of mutations in these genes can help in confirming a clinical diagnosis, guiding treatment decisions, and providing genetic counseling to affected individuals and their families.

Why is this test Rasopathies Gene Panel taken?

The Rasopathies Gene Panel test is taken to diagnose and identify genetic mutations related to Rasopathies, which are a group of genetic syndromes caused by mutations in genes that are part of the Ras-MAPK signaling pathway. This pathway plays a critical role in regulating cell growth and division, and mutations can lead to a variety of developmental abnormalities and health issues.

By analyzing a panel of genes associated with Rasopathies, healthcare providers can determine if a patient's symptoms are due to a genetic mutation in this pathway. This information can help guide treatment decisions, provide important information for family planning, and offer insights into the prognosis and potential complications associated with the condition.

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