Rapid identification of the most common chromosome syndromes in pregnancies (amniotic fluid, chorionic villus sample (CVS)) and newborn babies (peripheral or cord blood):
Aneuploidy Panel (Amniotic fluid, CVS, and peripheral or cord blood): Trisomy 13 (Patau syndrome) Trisomy 18 (Edwards syndrome) Trisomy 21 (Down syndrome) Sex chromosome abnormalities (X,Y) Single FISH Probes (peripheral or cord blood only): SRY Deletion (Yp11.3) Kallmann syndrome (Xp22.3) DiGeorge/ Velocardiofacial syndrome (22q11.2) Prader Willi/ Angelman syndrome (15q11.2) Williams syndrome (7q11.23)
An indication must be provided. The laboratory will not delay or reject testing if this information is not provided, but appropriate testing and interpretation may be compromised.
Blood: Container/Tube: Green-top (sodium heparin) tube(s) Specimen: Adult 5- 10 mL, Newborn 2-5mL in sodium heparin dark green tube whole blood. Transport Temperature: Room Temperature Collection Instructions: Invert several times to mix blood. Other anticoagulants are not recommended and are harmful to the viability of the cells. Label vial with patient’s name and date of birth. Forward promptly. Specimen cannot be frozen. Prenatal Specimens: Chorionic Villi (CVS): 3 -5 mg in sterile container Amniotic Fluid; 5 mL in sterile container Transport Temperature: Room Temperature Forward promptly. Specimen cannot be frozen.
Transport Instructions
Room temperature
Specimen Stability
48 hours room temperature If specimen cannot be sent promptly, refrigerate and send ASAP DO NOT FREEZE
Methodology
Fluorescence in situ Hybridization (FISH)
Days Performed
Monday through Saturday TAT: Prenatal Aneuploidy FISH panel: 1-2 business days Peripheral Blood single microdeletion FISH: 7-10 days Rapid Newborn Aneuploidy panel: 1-2 business days
Performing Laboratory
Northwell Health Laboratories
CPT
88271 - DNA probe, each (Prenatal Aneuploidy FISH panel) 88235 - AF or CVS culture (Prenatal Aneuploidy FISH panel) 88271 - DNA probe, single (Single microdeletion FISH probe) 88275 - interphase in situ hybridization 88291 - interpretation and report
