LP63620-6

Subtelomere analysis

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Descriptions

Test to examine the ends of all chromosomes for deletions or rearrangements. Source: Regenstrief Institute

Telomeres are DNA-protein structures located at the end of each chromosome and containing long stretches of (TTAGGG) in repeats of variable length (3-20kb). They protect chromosomes from deterioration and prevent fusion with other chromosomes. The region adjacent to the telomeric repeats is called the subtelomere, which also contains segments of repetitive stretches of DNA. Subtelomeres are found to be relatively gene-rich due to frequent duplication and recombination events. Deletions and rearrangements in subtelomere regions have been associated with mental retardation and congenital abnormalities. Cytogenetic analysis of subtelomeres is difficult due to low resolution using conventional banding techniques. FISH probes specific for subtelomeric regions on both the long and short arms of chromosomes are useful for detecting subtle rearrangements. Source: Regenstrief LOINC

Basic Part Properties

Part Display Name

Subtelomere analysis

Part Type

Component (Describes the core component or analyte measured)

Created On

2007-05-01

Construct for LOINC Short Name

Subtelomere analysis

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