Interpretive Handbook

Test 82583 :
Subtelomeric Region Anomalies, FISH

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

Telomere caps of (TTAGGG)n repeats constitute 3 Kb to 20 Kb at the ends of each human chromosome. Centromeric to the telomere caps are 100 Kb to 300 Kb of telomere-associated repeats (TAR). Unique DNA sequences are centromeric to the TAR ending. The telomere-specific DNA probes are derived from the area near the junction of the TARs and unique sequences.(1)


Because of high gene concentrations in telomeric regions(2), there is an intense interest in subtle abnormalities involving the telomeres. For example, subtle abnormalities have been reported involving the telomeres in 7.4% of a large population of children with moderate-to-severe mental retardation.(3) Abnormalities involving the telomere regions also are suspected in individuals with nonspecific dysmorphic features or couples with multiple miscarriages who are karyotypically normal.

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

Evaluation of cases of nonspecific moderate-to-severe mental retardation or nonspecific dysmorphic features when standard chromosome results are normal


Evaluation of parents or other family members of a patient who has been previously diagnosed with a subtelomere abnormality

Interpretation Provides information to assist in interpretation of the test results

A deletion results in the loss of a p-arm or q-arm specific probe, and a cryptic translocation causes an exchange between the involved chromosome arms. Duplications, derivative chromosomes, and insertions of subtelomeric regions also can be detected.


Family studies may be necessary following abnormal results from this FISH study, as parents may carry balanced translocations or deletions that are found in their children.

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

A standard chromosome analysis must be performed first to rule out microscopically observable karyotypic abnormalities.


Microdeletions that are outside of the probe location are undetectable and this test cannot detect DNA molecular alterations such as point mutations.


If original specimen is of low volume or has low number of suitable metaphases, another specimen may be necessary for this test, since this test requires large quantities of metaphases.

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.

Clinical References Provides recommendations for further in-depth reading of a clinical nature

1. Knight SJ, Lese CM, Precht S, et al: An optimized set of human telomere clones for studying telomere integrity and architecture. Am J Hum Genet 2000;67:320-332

2. Saccone S, DeSario A, Della Valle G, et al: The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes. Proc Natl Acad Sci USA 1992;89:4913-4917

3. Knight SJ, Regan R, Nicod A, et al: Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 1999;354:1676-1681