Test Catalog

Test ID: DD22F    
22q11.2 Deletion/Duplication, FISH

Useful For Suggests clinical disorders or settings where the test may be helpful

Establishing a diagnosis of 22q deletion/duplication syndromes


Detecting cryptic rearrangements involving 22q11.2 or 22q11.3 that are not demonstrated by conventional chromosome studies

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results. Additional charges will be incurred for application of all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

The 22q deletion syndrome and 22q duplication syndrome have overlapping phenotypes. Deletions of 22q are associated with DiGeorge and velocardiofacial syndrome. These syndromes are manifested by the presence of growth deficiency, global developmental delay, heart defect, and hearing loss. The major birth defects include palatal clefting or insufficiency and thymus aplasia. Prominent facial features are widely spread eyes, superior placement of eyebrows, downward slanting palpebral fissures with or without ptosis (droopy upper eyelid), mild micrognathia (small jaw), and a long, narrow face.


FISH studies are highly specific and do not exclude other chromosome abnormalities.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Interpretation Provides information to assist in interpretation of the test results

Any individual with a normal signal pattern in each metaphase is considered negative for this probe.


Any patient with a FISH signal pattern indicating loss of the critical region (1 signal) will be reported as having a deletion of the region tested by this probe. This is consistent with a diagnosis of 22q deletion syndrome.


Any patient with a FISH signal pattern indicating duplication of the critical region (3 signals) will be reported as having a duplication of the region tested by this probe. This is consistent with a diagnosis 22q duplication syndrome.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

This test may fail to detect very small deletions within 22q11.2 or very distal deletions of chromosome 22 at 22q13.3.


Because this FISH test is not approved by the US Food and Drug Administration, it is important to confirm 22q deletion/duplication syndrome diagnoses by other established methods, such as clinical history or physical evaluation.


Interfering factors:

-Cell lysis caused by forcing the blood quickly through the needle

-Use of an improper anticoagulant or improperly mixing the blood with the anticoagulant

-Excessive transport time

-Inadequate amount of specimen may not permit adequate analysis

-Improper packaging may result in broken, leaky, and contaminated specimen during transport.

-Exposure of the specimen to temperature extremes (freezing or greater than 30 degrees C) may kill cells and interfere with attempts to culture cells.

-In prenatal specimens, a bloody specimen may interfere with attempts to culture cells and contamination by maternal cells may cause interpretive problems

Supportive Data

FISH analysis was performed on a series of patients and results were compared to cytogenetic analyses and the patient's phenotype. Using a probe for the critical region locus (HIRA), FISH analysis of metaphase cells or interphase nuclei identified HIRA deletions or duplications in all patients with a phenotype consistent with 22q deletion or duplication syndromes. In a series of patient specimens with normal karyotypes, no deletions or duplications of the HIRA region were identified.

Clinical Reference Recommendations for in-depth reading of a clinical nature

1. Ensenauer RE, Adeyinka A, Flynn HC, et al: Microduplication 22q11.2 an emerging syndrome: clinical, cytogenetic and molecular analysis of thirteen patients. Am J Hum Genet 2003;73:1027-1040

2. Yobb TM, Sommerville MJ, Willatt L, et al: Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet 2005;76:865-876

3. Bassett AS, Chow EWC, Husted J, et al: Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet 2005;138A:307-313

4. Manji A, Roberson JR, Wiktor A, et al: Prenatal diagnosis of 22q11.2 deletion when ultrasound examination reveals a heart defect. Genet Med 2001;3:65-66

5. McDonald-McGinn DM, Emanuel BS, Zackai EH: 22q11.2 Deletion Syndrome. GeneReviews, Accessed 05/22/2013, Available at www.ncbi.nlm.nih.gov/books/NBK1523/

Special Instructions Library of PDFs including pertinent information and forms related to the test