FISH Study: Microdeletion Metaphase – Angelman Syndrome (15q11.2)

Additional Information:

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CPT Code(s):

  • 88271
  • 88273
  • 88291

Collection Procedure:

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Specimen Requirements:

Peripheral Blood: Peripheral blood must be collected aseptically in sodium heparin tubes (usually green-top tubes) and immediately rotated thoroughly to prevent clotting. For infants, obtain approximately 2 cc. Obtain 5 - 7 cc for children and adults.

Note: A separate blood sample is required if a concurrent CGH microarray study is desired. Do not freeze or fix samples in any manner contrary to the maintenance of cell viability. Maintain sample sterility; keep all specimens at room temperature; and deliver samples to the laboratory within 24 - 48 hours. Ship specimens at room temperature for overnight delivery.

  • Unacceptable Conditions:
    • Frozen specimens
    • Specimens > 48 hours*
  • Stability (collection to initiation of testing):
    • Ambient: 24 - 48 hours*
    • Frozen: Unacceptable

* Cell viability of specimens requiring cell culture may be compromised in specimens more than 48 hours old upon receipt. Refrigeration at 2° - 8° C may assist when a delay is not preventable. Do not freeze or place specimens directly on ice.

Use:

This test is used to detect proximal chromosome 15 long-arm deletions most frequently associated with the genetic condition commonly referred to as the Angelman Syndrome. It does not detect other mechanisms that may result in the Angelman Syndrome, such as PUD, gene defects, etc.

Methodology:

Metaphase/Chromosome fluorescence in-situ hybridization (FISH) analyses; requires cell culture and a concurrent or previous routine karyotyping

Reported:

10 - 28 days

Reference Values:

By report; interpretive

Performed:

Monday - Saturday

Interpretation Data:

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