FISH Study: Microdeletion Metaphase – Kallmann Syndrome (Xp22.3)

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 old*
  • 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 microdeletions in the distal short-arm region of the X chromosome that include the KAL1 gene locus and have been reported in some patients with Kallmann syndrome.

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:

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Performed:

Monday - Saturday

Interpretation Data:

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