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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 for obtaining the report for the test Bardet Biedl Syndrome (BBS) Gene Panel is typically 14-21 days. However, the exact time frame may vary depending on the laboratory and other factors.

What are the prerequisites for the test Bardet Biedl Syndrome (BBS) Gene Panel

  • Patients with clinical symptoms suggestive of Bardet Biedl Syndrome (BBS) including retinitis pigmentosa, obesity, polydactyly, renal abnormalities, intellectual disability, and hypogonadism
  • Genetic counseling and informed consent are required before testing
  • Family history evaluation to determine inheritance pattern
  • Confirmation of clinical diagnosis through physical examination and medical history
  • Prior genetic testing for common mutations in BBS genes if available

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

  • Number of genes tested: 20
  • Average coverage: 200x
  • Sequencing technology: Next Generation Sequencing (NGS)
  • Methodology: Targeted Gene Panel
  • Reportable range: Variants in coding regions and intron/exon boundaries

What does this test Bardet Biedl Syndrome (BBS) Gene Panel identify?

  • Bardet-Biedl Syndrome (BBS) Gene Panel identifies mutations in genes associated with Bardet-Biedl Syndrome.
  • Bardet-Biedl Syndrome is a rare genetic disorder characterized by obesity, vision problems, kidney abnormalities, and other symptoms.
  • The gene panel tests for mutations in genes such as BBS1, BBS2, BBS4, BBS5, BBS7, and BBS9, among others.
  • Identifying mutations in these genes can help confirm a diagnosis of Bardet-Biedl Syndrome and guide treatment and management options.

Why is this test Bardet Biedl Syndrome (BBS) Gene Panel taken?

The Bardet Biedl Syndrome (BBS) Gene Panel test is taken to diagnose or confirm the presence of Bardet Biedl Syndrome in an individual. Bardet Biedl Syndrome is a rare genetic disorder that affects multiple systems in the body, including vision, kidney function, and obesity. This syndrome is caused by mutations in one of several genes, and the gene panel test helps identify these mutations.

By analyzing a panel of genes associated with BBS, healthcare providers can determine if a patient has mutations that are known to cause the syndrome. This information is crucial for proper diagnosis, treatment, and genetic counseling for the individual and their family members.

Overall, the Bardet Biedl Syndrome Gene Panel test is essential for identifying the genetic cause of BBS and guiding healthcare decisions for affected individuals.

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