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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 Bardet Biedl Syndrome Gene Panel is 21 days.

What are the prerequisites for the test Bardet Biedl Syndrome Gene Panel

  • Referral from a healthcare provider
  • Written consent for genetic testing
  • Medical history and family history documentation
  • Confirmation of clinical diagnosis of Bardet Biedl Syndrome
  • Availability of a blood or saliva sample for testing

What are the measure values for the test Bardet Biedl Syndrome Gene Panel

  • BBS1 gene – Normal range: 0-2 copies
  • BBS2 gene – Normal range: 0-2 copies
  • BBS4 gene – Normal range: 0-2 copies
  • BBS5 gene – Normal range: 0-2 copies
  • BBS7 gene – Normal range: 0-2 copies
  • BBS9 gene – Normal range: 0-2 copies
  • BBS10 gene – Normal range: 0-2 copies

What does this test Bardet Biedl Syndrome Gene Panel identify?

  • Bardet Biedl Syndrome Gene Panel identifies mutations in genes associated with Bardet Biedl Syndrome (BBS).
  • Bardet Biedl Syndrome is a rare genetic disorder that affects multiple body systems, including the eyes, kidneys, and central nervous system.
  • The gene panel specifically looks for mutations in known BBS genes, such as BBS1, BBS2, BBS4, BBS5, BBS6, BBS7, BBS9, BBS10, BBS12, and others.
  • Identifying mutations in these genes can help confirm a diagnosis of Bardet Biedl Syndrome and provide information about the specific genetic changes causing the condition.
  • This information can be used for genetic counseling, family planning, and potentially targeted treatments or interventions for individuals with Bardet Biedl Syndrome.

Why is this test Bardet Biedl Syndrome Gene Panel taken?

Reasons for taking the Bardet Biedl Syndrome Gene Panel Test

The Bardet Biedl Syndrome Gene Panel Test is taken for the following reasons:

  1. Diagnosis: The test helps in confirming a diagnosis of Bardet Biedl Syndrome (BBS), a rare genetic disorder that affects multiple organ systems.
  2. Risk assessment: It can help determine the risk of developing BBS in individuals with a family history of the condition.
  3. Genetic counseling: Results of the test can provide valuable information for genetic counseling and family planning.
  4. Treatment planning: Knowing the genetic cause of BBS can help healthcare providers plan appropriate treatment and management strategies.
  5. Research purposes: The test may also be used for research purposes to better understand the genetic basis of BBS and develop new therapies.

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