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Reports Within:

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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 test 4H Syndrome Gene Panel is typically 14-21 days from the date of sample collection.

What are the prerequisites for the test 4H Syndrome Gene Panel

  • Completed test requisition form
  • Copy of insurance card
  • Patient's demographic information
  • Clinical history of the patient
  • Family history of genetic disorders
  • Consent form signed by the patient or legal guardian

What are the measure values for the test 4H Syndrome Gene Panel

  • Gene 1 - Measure Value 1
  • Gene 2 - Measure Value 2
  • Gene 3 - Measure Value 3
  • Gene 4 - Measure Value 4
  • Gene 5 - Measure Value 5

What does this test 4H Syndrome Gene Panel identify?

  • 4H Syndrome Gene Panel identifies mutations in specific genes associated with 4H Syndrome.
  • 4H Syndrome is a rare genetic disorder characterized by hypomyelination, hypogonadotropic hypogonadism, and hypodontia.
  • The panel includes genes such as POLR3A, POLR3B, and POLR1C that are known to be associated with 4H Syndrome.
  • Testing for mutations in these genes can help in confirming a diagnosis of 4H Syndrome and guiding treatment and management decisions.

Why is this test 4H Syndrome Gene Panel taken?

The 4H Syndrome Gene Panel test is taken to diagnose a rare genetic disorder known as 4H syndrome. This disorder is characterized by a combination of four main features: hypomyelination (underdevelopment of myelin in the brain), hypogonadotropic hypogonadism (a condition affecting the production of hormones that regulate the reproductive system), and early-onset hypodontia (absence of teeth) and hypomyelination.

The gene panel test analyzes specific genes known to be associated with 4H syndrome to determine if a person has any mutations or variants that may be causing the disorder. This information can help healthcare providers make an accurate diagnosis and develop an appropriate treatment plan for individuals with 4H syndrome.

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