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FISH PROBE: DIGEORGE/VELOCARDIOFACIAL SYNDROME

Mnemonic

ATTN CYGEN

Synonym

Del 22q11 - VCFS-FISH for 22q - Digeorge Syndrome - F-Velocardiofacial Syndrome - Cytogenetics

Includes

A high resolution chromosome analysis will be performed in conjunction with the FISH analysis. FISH is not a stand-alone test.

Guidelines

FISH using fluorescently labeled DNA for the TUPLE1 (HIRA) region is used to identify deletions of band 22q11.2 found in DiGeorge and velocardialfacial (VCFS) syndromes. 95% of patients fitting the phenotype will demonstrate the deletion by this method.

Specimen Collection Requirements

Collect

Whole Blood, unclotted, in a dark green (preservative-free sodium heparin) top tube

Handling

Do not refrigerate, freeze, or expose to extreme temperatures. Keep specimen at ambient temperature and transport within 24 hours. Maintain sterility, do not split specimen or open the tube.

Preferred Volume

4.0 mL

Minimum Volume

1.0 mL

Transport

Room temperature within 24 hours of collection

Rejection Criteria

Capillary sticks

Stability

Ambient: 24 hours; Refrigerated: Suboptimal, call Cytogenetics at (503) 413-4613

Testing Information

Performed

Weekly

Reported

2-3 weeks, 4-7 days on the FISH portion of the test can be arranged by calling the Cytogenetics Lab (503) 413-4613

Method

Fluorescent In Situ Hybridization (FISH)

Reference Values

Reference Values

Interpretation provided.

Comments

For questions regarding the report, please call (503) 413-4613

Last Updated: Friday, January 6, 2017 09:51:49 AM


Client Services: 503-413-1234