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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 Dysostosis Gene Panel test is 14 days. This includes the time for sample collection, processing, analysis, and generating the final report.

What are the prerequisites for the test Dysostosis Gene Panel

  • Patients must be referred by a qualified healthcare provider.
  • Patients must have a suspected or confirmed diagnosis of dysostosis.
  • Patients must have provided informed consent for genetic testing.
  • Patients must have completed any necessary pre-test counseling.

What are the measure values for the test Dysostosis Gene Panel

  • Gene: COL1A1
  • Variant: c.934G>A
  • Classification: Pathogenic
  • Frequency: 1 in 1000

What does this test Dysostosis Gene Panel identify?

  • The Dysostosis Gene Panel is a genetic test that identifies mutations in genes associated with various dysostosis syndromes.
  • Dysostosis syndromes are a group of rare genetic disorders that affect bone development and can result in skeletal abnormalities.
  • The panel specifically looks for mutations in genes such as FGFR2, FGFR3, COL11A1, and COL2A1, which are known to be associated with conditions like Crouzon syndrome, Apert syndrome, Stickler syndrome, and spondyloepiphyseal dysplasia, among others.
  • By identifying mutations in these genes, the test can help diagnose specific dysostosis syndromes, guide treatment decisions, and provide valuable information for genetic counseling.

Why is this test Dysostosis Gene Panel taken?

The Dysostosis Gene Panel test is taken to identify mutations in genes associated with dysostosis syndromes. Dysostosis syndromes are a group of rare genetic disorders that affect the development of bones and other connective tissues in the body. These disorders can lead to skeletal abnormalities, such as abnormal bone growth, shape, or density.

By analyzing a panel of genes known to be involved in dysostosis syndromes, healthcare providers can diagnose and potentially provide personalized treatment options for individuals with these rare genetic disorders.

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