HLX FISH Constitutional CASE HLX FISH Constitutional CASE

Synonyms

Allscripts (AEHR) Order Name

FISH Constitutional

Sunrise Clinical Manager (SCM) Order Name

Not Orderable

EPIC Order Name

FISH Constitutional

Clinical Info

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)

Specimen Type

Blood, CVS, Amnio

Specimen Volume

Container

Sterile container (prenatal specimens); Green-top (sodium heparin) tube(s) (peripheral/cord blood)

Collection Instructions

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 Laboratories

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

PDM

5160320

Result Interpretation

See report.

Forms

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