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Reports Within

Parameters

Reports Within:

Parameter Include:

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 Ciliopathy Gene Panel test is 21 days.

What are the prerequisites for the test Ciliopathy Gene Panel

  • Referral form completed and signed by a qualified healthcare professional
  • Family history provided, including affected and unaffected family members
  • Clinical information and phenotype description of the patient
  • Consent form signed by the patient or legal guardian
  • Payment for the test

What are the measure values for the test Ciliopathy Gene Panel

Gene Measure Value
ALMS1 0-1.9%
ARL13B 0-1.5%
BBS1 0-2.3%
BBS2 0-1.8%
BBS4 0-2.1%

What does this test Ciliopathy Gene Panel identify?

  1. Bardet-Biedl syndrome (BBS)
  2. Joubert syndrome (JBTS)
  3. Meckel-Gruber syndrome (MKS)
  4. Nephronophthisis (NPHP)
  5. Orofaciodigital syndrome (OFD)
  6. Polycystic kidney disease (PKD)

Why is this test Ciliopathy Gene Panel taken?

The Ciliopathy Gene Panel test is taken to identify genetic mutations associated with ciliopathies. Ciliopathies are a group of disorders caused by defects in the structure or function of cilia, which are hair-like structures on the surface of cells that play a crucial role in various cellular processes. These disorders can affect multiple organ systems and lead to a wide range of symptoms, including kidney disease, retinal degeneration, and skeletal abnormalities.

By analyzing a panel of genes known to be involved in ciliopathies, this test can help healthcare providers diagnose these conditions, provide accurate genetic counseling, and guide personalized treatment strategies for affected individuals. Early detection of ciliopathy-related mutations can also help families understand the risk of passing on these genetic disorders to future generations.

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