Subtelomere Microdeletion Analysis

Indications For Subtelomere Microdeletion Analysis

Submicroscopic abnormalities at the ends of chromosomes are a significant cause of idiopathic mental retardation.  Indications for subtelomere analysis include individuals with moderate to severe mental retardation of unknown etiology or parents of a child found to have subtelomere abnormalities.  Subtelomere analysis also has application in the investigation of recurrent miscarriage and autistic disorders.

Collection Procedure

Peripheral blood sample collected in a sodium heparin (green top tube) labeled with patient’s name and date of birth.  A completed test requisition form must be included with every sample.  A transport kit is available upon request.

Specimen Requirements

5-10 cc of blood collected in a green top tube (sodium heparin)

Specimen Container

Green top tube (sodium heparin)

Transport Temperature

Room temperature (DO NOT refrigerate, freeze or centrifuge)


Laboratory testing for subtelomere microdeletion analysis uses fluorescence in situ hybridization (FISH) technology to examine the ends of all chromosomes for deletions or rearrangements

Causes for Rejection

Frozen specimen, clotted or hemolysed, inappropriate container

Turnaround Time

3-7 days following cytogenetic analysis