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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 Meckel Gruber Syndrome Gene Panel is 21 days.

What are the prerequisites for the test Meckel Gruber Syndrome Gene Panel

  • Confirmation of clinical diagnosis of Meckel Gruber Syndrome
  • Referral from a healthcare provider
  • Consent form signed by the patient or legal guardian
  • Payment for the test if required

What are the measure values for the test Meckel Gruber Syndrome Gene Panel

Gene Name Measure Value
MKS1 Full gene sequencing
TMEM67 Full gene sequencing
CC2D2A Full gene sequencing
RPGRIP1L Full gene sequencing
C5orf42 Full gene sequencing

What does this test Meckel Gruber Syndrome Gene Panel identify?

  • Meckel Gruber Syndrome Gene Panel identifies mutations in genes associated with Meckel Gruber Syndrome.
  • Meckel Gruber Syndrome is a rare genetic disorder characterized by various abnormalities including brain malformations, kidney cysts, polydactyly (extra fingers or toes), and other developmental defects.
  • The gene panel tests for mutations in genes such as MKS1, TMEM67, CC2D2A, RPGRIP1L, and others that have been linked to the development of Meckel Gruber Syndrome.
  • Identifying mutations in these genes can help diagnose individuals with the syndrome, provide information about the severity of the condition, and guide treatment options.

Why is this test Meckel Gruber Syndrome Gene Panel taken?

Meckel Gruber Syndrome Gene Panel Test:

The Meckel Gruber Syndrome Gene Panel Test is taken to screen for genetic mutations associated with Meckel Gruber Syndrome, a rare genetic disorder that affects multiple organ systems and is characterized by abnormalities in the brain, kidneys, and liver. This test helps in identifying specific gene mutations that are known to cause Meckel Gruber Syndrome, allowing for early diagnosis and appropriate medical management.

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