Fish Analysis, Neonatal Aneuploidy Detection

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FISH ANALYSIS, NEONATAL ANEUPLOIDY DETECTION

Pseudonyms: Newborn Aneuploidy Screen, Newborn Trisomy Detection, Newborn Sex Chromosome Detection

TURNAROUND TIME: 1 to 2 days
 
 
TESTING METHODOLOGY: Fluorescence in situ hybridization
 
SPECIMEN REQUIREMENTS:
  • Collect: 1-2 mL peripheral blood in sodium heparin (green) for newborns
  • Min. Collection: 1 mL for newborns
  • Transport: peripheral blood in sodium heparin (green) at 20-25°C
  • Stability: Ambient: 24 hours; Refrigerated: 72 hours; Frozen: unacceptable
  • Unacceptable Conditions: Frozen or clotted specimens; specimens in anticoagulants other than sodium heparin

A Cytogenetics Laboratory Test Requisition must accompany the specimen. Contact the Cytogenetics Laboratory at 918-502-1722 to obtain further information.

INTERPRETIVE DATA:
Test Summary: Rapid detection of the most common numerical chromosome abnormalities - aneuploidy of chromosomes X, Y, 13, 18 and 21
 
 
Methods: Dual-color and triple-color FISH analyses performed on interphase nuclei using probes for the X and Y chromosomes (DXZ1 and DYZ3) and chromosome 18 (D18Z1) and probes for the RB1 locus on chromosome 13 and the D21S259, D21S341, and D21S342 loci on chromosome 21; analysis of 50 interphase cells for each probe set
 
Test Limitations: Complete or partial trisomies and structural rearrangements of chromosomes other than chromosomes 13, 18, 21, X and Y are not detected; structural rearrangements of chromosomes 13, 18, 21, X and Y may not be detected.
 
Test Variables: Turnaround time given represents average time which is subject to multiple variables. Specimens received on Friday will not be reported until following Tuesday. Call Laboratory for expected turnaround time for specific samples.
 
FDA Approval: This application of the Aneuvysion FISH test is not approved by the FDA and should be used as an adjunct to other clinical information.
 
Indications for Use:
  • Newborns suspected of having trisomy 13, trisomy 18, trisomy 21, or numerical abnormalities of the sex chromosomes
ADDITIONAL RESOURCES:
 
Genetics Home Reference:
Monosomy X: