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Parameters

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 Ciliopathies With Major Skeletal Involvement Gene Panel is 21 days.

What are the prerequisites for the test Ciliopathies With Major Skeletal Involvement Gene Panel

  • Patients with clinical suspicion of ciliopathies with major skeletal involvement
  • Patients with a family history of ciliopathies with major skeletal involvement
  • Patients with symptoms such as polydactyly, short ribs, or other skeletal anomalies
  • Patients with a history of renal disease or liver fibrosis
  • Patients with developmental delay or intellectual disability

What are the measure values for the test Ciliopathies With Major Skeletal Involvement Gene Panel

  1. IFT140 Gene Analysis
  2. LRP5 Gene Analysis
  3. WDR35 Gene Analysis
  4. WDR19 Gene Analysis

What does this test Ciliopathies With Major Skeletal Involvement Gene Panel identify?

  • This test identifies mutations in genes associated with ciliopathies, which are a group of genetic disorders characterized by abnormalities in the structure and/or function of cilia.
  • The test specifically focuses on genes that are known to cause ciliopathies with major skeletal involvement, such as skeletal dysplasias, short rib thoracic dysplasia, and cranioectodermal dysplasia.
  • By analyzing these genes, the test can help diagnose individuals with ciliopathies that manifest with skeletal abnormalities, allowing for appropriate medical management and genetic counseling.

Why is this test Ciliopathies With Major Skeletal Involvement Gene Panel taken?

This test is taken to diagnose ciliopathies with major skeletal involvement. Ciliopathies are a group of genetic disorders that affect the structure and function of cilia, which are tiny, hair-like structures found on the surface of cells. These disorders can affect various organs and systems in the body, including the skeletal system.

Individuals with ciliopathies may experience skeletal abnormalities such as short stature, limb deformities, and abnormal bone growth. By analyzing the genes associated with ciliopathies with major skeletal involvement, this gene panel test can help healthcare providers identify the specific genetic mutations responsible for the disorder and provide appropriate treatment and management strategies.

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