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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 Cornelia De Lange Syndrome Gene Panel is 21 days.

What are the prerequisites for the test Cornelia De Lange Syndrome Gene Panel

  • Patients suspected of Cornelia De Lange Syndrome based on clinical symptoms
  • Requisition form filled out completely and accurately
  • Consent form signed by the patient or legal guardian
  • Sample collection kit with appropriate sample type (blood, saliva, etc.)
  • Payment for the test (if applicable)

What are the measure values for the test Cornelia De Lange Syndrome Gene Panel

  • SMC1A Gene Analysis: 0.5-2.5
  • SMC3 Gene Analysis: 0.6-2.2
  • HDAC8 Gene Analysis: 0.4-2.0
  • NIPBL Gene Analysis: 0.8-2.6
  • RAD21 Gene Analysis: 0.7-2.3

What does this test Cornelia De Lange Syndrome Gene Panel identify?

  • Cornelia De Lange Syndrome Gene Panel identifies mutations in genes associated with Cornelia De Lange Syndrome.
  • These genes include NIPBL, SMC1A, SMC3, RAD21, and HDAC8.
  • These mutations can lead to various symptoms of Cornelia De Lange Syndrome, such as intellectual disability, growth delays, limb abnormalities, and distinctive facial features.
  • The panel helps in diagnosing individuals with suspected Cornelia De Lange Syndrome and also helps in genetic counseling and family planning.

Why is this test Cornelia De Lange Syndrome Gene Panel taken?

Reasons for taking the Cornelia De Lange Syndrome Gene Panel test:

The Cornelia De Lange Syndrome Gene Panel test is taken to diagnose Cornelia De Lange Syndrome (CdLS), a rare genetic disorder that affects multiple parts of the body. This test helps in identifying mutations in specific genes associated with CdLS, such as NIPBL, SMC1A, SMC3, RAD21, and HDAC8.

Some of the reasons for taking this test include:

  • Confirming a clinical diagnosis of CdLS based on physical symptoms
  • Screening individuals with a family history of CdLS for genetic mutations
  • Providing genetic counseling and guidance for families affected by CdLS
  • Helping in prenatal testing for CdLS in cases where there is a family history or suspected genetic mutation

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