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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

Maximum Days to Obtain Report for Cantu Syndrome Panel Test:

The maximum days to obtain the report for the Cantu Syndrome Panel test is typically 10-14 business days from the date of sample collection.

What are the prerequisites for the test Cantu Syndrome Panel

  • Patient must have symptoms consistent with Cantu Syndrome
  • Physician's order for genetic testing
  • Signed informed consent form
  • Complete medical history of the patient
  • Insurance pre-authorization if required

What are the measure values for the test Cantu Syndrome Panel

Test Name Measure Values
Cantu Syndrome Panel
  • ABCC9 Gene Sequencing
  • KATP Channelopathy Analysis
  • Sequencing of coding region and splice sites of the ABCC9 gene
  • Deletion/duplication analysis of the ABCC9 gene
  • Sequence analysis of the KCNJ8 gene
  • Deletion/duplication analysis of the KCNJ8 gene
  • Sequence analysis of the ABCC9 gene
  • Deletion/duplication analysis of the ABCC9 gene

What does this test Cantu Syndrome Panel identify?

  • Cantu Syndrome Panel identifies mutations in the ABCC9, KCNJ8, and CACNA1S genes.
  • These genes are associated with Cantu syndrome, a rare genetic disorder characterized by increased hair growth, coarse facial features, heart defects, and other physical abnormalities.
  • The panel helps in diagnosing Cantu syndrome by detecting mutations in these specific genes.

Why is this test Cantu Syndrome Panel taken?

The Cantu Syndrome Panel test is taken to diagnose Cantu Syndrome, a rare genetic disorder characterized by a range of symptoms including excessive hair growth, heart defects, joint hypermobility, and developmental delays. This test analyzes specific genes associated with Cantu Syndrome to confirm a diagnosis and guide treatment options. It is typically recommended for individuals with symptoms suggestive of Cantu Syndrome or a family history of the condition.

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