FISH Constitutional

Synonyms

  • ANEUPLOIDY FISH
  • DIGEORGE/ VELOCARDIOFACIAL SYNDROME (22Q11.2)
  • FISH CONSTITUTIONAL
  • KALLMANN SYNDROME (XP22.3)
  • LAB11649
  • PRADER WILLI/ ANGELMA
  • SRY DELETION (YP11.3)

Cerner Name

HLX FISH Constitutional CASE

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 Sources

Abdominal Wall Alveoli Amniotic Sac Ankle, Left Ankle, Right Anus Appendix Arm, Left Arm, Right Ascend Colon Autopsy Axilla, Left Axilla, Right Back, Lower Back, Upper Bladder Blood, Arterial Blood, Capillary Blood, Central Line Blood, Cord Blood, Venous Brain, Amygdala Brain, Basal Ganglia Brain, Cerebellum Brain, Cerebral Cortex Brain, Hypothalamus Brain, Medulla Brain, Pons Breast, Left Breast, Left Central Breast, Right Breast, Right Central Buttock, Left Buttock, Right Cervix Cheek Chest, Left Chest, Right Chin Colon, Cecum Diaphragm Ear, Left Ear, Right Elbow, Right Esophagus Eye, Left Eye, Right Fallopian Tube, Left Fallopian Tube, Right Fetus Foot, Left Foot, Right Forearm, Left Forearm, Right Forehead Foreskin Gallbladder Hand, Digit Left Hand, Digit Right Hand, Left Hand, Right Heart Hip, Left Hip, Right Kidney, Left Kidney, Right Knee, Left Knee, Right Large Intestine, Left/Descending Colon Large Intestine, Rectum Larynx Leg, Left Leg, Right Lip, Lower Lip, Upper Liver Lung, Left Lower Lobe Lung, Left Upper Lobe Lung, Right Lower Lobe Lung, Right Middle Lobe Lung, Right Upper Lobe Mediastinum Meninges/Dura Misc Naris, Left Naris, Right Nasal/Nasopharynx Neck Nose Oral Cavity Oropharynx Ostomy Pouch Ovary, Left Ovary, Right Pancreas Penis Pericardium Placenta Placenta Product of Conception Prostate Retroperitoneum Sacral Scalp Scrotum Shoulder, Left Shoulder, Right Sigmoid Colon Skin Small Intestine, Duodenum Small Intestine, Ileum Small Intestine, Jejunum Spinal Cord Spine, Cervical Spine, Lumbar Spleen Stomach Sympathetic Ganglion Testicular Appendage Testis, Left Testis, Right Thigh, Left Thigh, Right Thoracic Throat Thymus Thyroid Toe, Left Toe, Right Tongue Trachea Transverse Colon Ureter, Left Ureter, Right Urethra Uterus Vagina Vas Deferens, Left Vas Deferens, Right Vulva Wrist, Left Wrist, Right Show more...

Specimen Types

Amniotic Fluid Aspirate Blood Chorionic Villus Products of Conception Tissue

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

Ordering Instructions

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)

Results

Result Interpretation

See report.

Forms
Cytogenetics/FISH LAB11649 build edit