Indications
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)
Label tube 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.
Transport Temperature
Room temperature (DO NOT refrigerate, freeze or centrifuge)
Methodology
Subtelomere 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 hemolyzed, inappropriate container
Turnaround Time
3-7 days following cytogenetic analysis