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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 Macrocephaly Gene Panel is 21 days.

What are the prerequisites for the test Macrocephaly Gene Panel

  • Medical consultation with a geneticist or genetic counselor
  • Clinical evaluation of the patient
  • Consent form signed by the patient or legal guardian
  • Blood or saliva sample collected from the patient
  • Payment for the test (if applicable)

What are the measure values for the test Macrocephaly Gene Panel

Gene Measure Value
MECP2 0.5
PTEN 0.4
CDKL5 0.3
PNKP 0.2

What does this test Macrocephaly Gene Panel identify?

  • The Macrocephaly Gene Panel identifies genetic variants associated with macrocephaly, which is a condition characterized by an abnormally large head size.
  • It targets genes known to be involved in the regulation of brain growth and development, such as PTEN, PIK3CA, and AKT3.
  • By analyzing these genes, the test can help diagnose individuals with macrocephaly and provide valuable information for clinical management and genetic counseling.
  • The panel may also identify genetic changes that predispose individuals to other related conditions, such as autism spectrum disorder or intellectual disability.

Why is this test Macrocephaly Gene Panel taken?

Macrocephaly Gene Panel Test

The Macrocephaly Gene Panel test is taken to identify genetic mutations that may be associated with macrocephaly, which is a condition characterized by an abnormally large head size. This test is recommended for individuals who have symptoms of macrocephaly or other related neurological issues.

The test helps in determining the specific genetic cause of macrocephaly, which can aid in diagnosis, prognosis, and treatment planning. It can also provide valuable information for genetic counseling and family planning.

The Macrocephaly Gene Panel test analyzes a panel of genes known to be associated with macrocephaly and related conditions. Results from this test can help healthcare providers tailor management and care plans according to the genetic findings.

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