EPIC Test Compendium Alpha
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FISH Constitutional

Test Catalog Information

Test Catalog Synonyms
EPIC Synonyms Kallmann syndrome (Xp22.3)
Prader Willi/ Angelma
DiGeorge/ Velocardiofacial syndrome (22q11.2)
SRY Deletion (Yp11.3)
Aneuploidy FISH
Cerner Primary MnemonicHLX FISH Constitutional CASE
EPIC Display NameFISH Constitutional
Allscripts (AEHR) Order Name

FISH Constitutional

Sunrise Clinical Manager (SCM) Order Name

Not Orderable

EPIC Inpatient Orderable Yes
EPIC Outpatient Orderable Yes
Cerner Results
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/Anmio

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 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

PDM

5160320

Desired Epic Build FISH Constitutional

Cerner Primary Mnemonic: HLX FISH Constitutional CASE
PDM 5160320
Informatics - WorkgroupCytogenetics/FISH
Synonyms *Kallmann syndrome (Xp22.3)
Prader Willi/ Angelma
DiGeorge/ Velocardiofacial syndrome (22q11.2)
SRY Deletion (Yp11.3)
Aneuploidy FISH
Display Name *FISH Constitutional
Order Entry Specimen Sources *
Order Entry Specimen Types
Amniotic Fluid
Blood
CVS
HLX Cord Blood
Products of Conception
Tissue
Specimen Navigator Specimen Types
Specimen Navigator Specimen Sources
Specimen Navigator Short NameFISH
Ordering info (EPIC SmartText)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)
IP Orderable Yes
OP Orderable Yes
AOEs *

AP AOEs
Special History No
Build Commentsplease pull the last 10 results
Filter *genetics
Procedure Category Change
Cerner Results

Actual Epic build

Procedure Id 115613
Pdm 5160320
Order Display Name FISH Constitutional
Procedure Name FISH
Procedure Master Number LAB11649
Short Procedure Name FISH (CONSTITUTIONAL)
Category Code 15.0
Category Code Record Name LAB CYTOGENETICS ORDERABLES
Synonyms KALLMANN SYNDROME (XP22.3) PRADER WILLI/ ANGELMA DIGEORGE/ VELOCARDIOFACIAL SYNDROME (22Q11.2) SRY DELETION (YP11.3) ANEUPLOIDY FISH
Clinically Active Yes
Orderable Yes
Performable
Filter Genomics Generic Genomics Procedure
Reference Link Url https://labs.northwell.edu/epic/test/115613
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)                                                                                                                                                                                                                
Default Specimen Type
Specimen Type Pick List Blood Amniotic Fluid Tissue Chorionic Villus Products of Conception
Specimen Type List
Op Specimen Type List
Specimen Source Pick List Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous Amniotic Sac Placenta Product of Conception Abdominal Wall Alveoli Ankle, Left Ankle, Right Anus Arm, Left Arm, Right Autopsy Axilla, Left Axilla, Right Back, Lower Back, Upper 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 Diaphragm Ear, Left Ear, Right Elbow, Right Esophagus Eye, Left Eye, Right Fallopian Tube, Right Fallopian Tube, Left 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 Appendix Colon, Cecum Large Intestine, Left/Descending Colon Large Intestine, Rectum Ascend Colon Sigmoid Colon Transverse Colon 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 Naris, Left Naris, Right Nasal/Nasopharynx Neck Nose Oral Cavity Oropharynx Ostomy Pouch Other Ovary, Left Ovary, Right Pancreas Penis Pericardium Placenta Prostate Retroperitoneum Scalp Scrotum Shoulder, Left Shoulder, Right Small Intestine, Duodenum Small Intestine, Ileum Small Intestine, Jejunum Spinal Cord Spine, Cervical Spine, Lumbar Sacral Thoracic Spleen Stomach Sympathetic Ganglion Testicular Appendage Testis, Left Testis, Right Thigh, Left Thigh, Right Throat Thymus Thyroid Toe, Left Toe, Right Tongue Trachea Blood, Cord Ureter, Left Ureter, Right Urethra Bladder Uterus Vagina Vas Deferens, Left Vas Deferens, Right Vulva Wrist, Left Wrist, Right
Specimen Source Default - Male
Specimen Source Default - Female
Specimen Source List
Op Specimen Source List
Ip Lab Test Components For Report HLXFISH
Op Lab Test Components For Report HLXFISH
Order Questions ["3048500058", "3048500000"]
Order Questions Record Name NH IP HLX FISH CONSTITUTIONAL PANEL
Inpatient Order Questions ["3048500058", "3048500000"]
Inpatient Order Questions Record Name NH IP HLX FISH CONSTITUTIONAL PANEL
Order Specific Question Override
Inpatient Question Override
Location Restrict List Ip
Location Restrict List Ip Record Name
Location Restrict List Include Ip
Location Restrict List Op
Location Restrict List Op Record Name
Location Restrict List Includes Op
Edp Amb Order Specific Questions Record Name NH IP PATIENT COMPLETED CONSENT
Edp Ip Order Specific Questions Record Name NH IP PATIENT COMPLETED CONSENT
Edp Ip Specimen Source
Edp Op Specimen Source
Edp Ip Specimen Type
Edp Op Specimen Type
Derived Edp Ip Buttons S
Derived Edp Ip Buttons T
Derived Edp Op Buttons S
Derived Edp Op Buttons T
Ip Orderable 1
Op Orderable 1
EPIC OP AOEs

Question IDQuestion NameQuestionResponse TypeResponse ListRequire Response
3048500000 NH IP PATIENT COMPLETED CONSENT Patient completed consent? Yes/No Yes
3048500058 NH IP HLX FISH CONSTITUTIONAL PANEL Panel? Custom List Aneuploidy panel (T13, T18, T21, X, Y)
SRY Deletion (Yp11.3) (peripheral or cord blood only)
Kallmann syndrome (Xp22.3) (peripheral or cord blood only)
DiGeorge/ Velocardiofacial syndrome (22q11.2) (peripheral or cord blood only)
Prader Willi/ Angelman syndrome (15q11.2) (peripheral or cord blood only)
Williams syndrome (7q11.23) (peripheral or cord blood only)
Yes
EPIC IP AOEs

Question IDQuestion NameQuestionResponse TypeResponse ListRequire Response
3048500000 NH IP PATIENT COMPLETED CONSENT Patient completed consent? Yes/No Yes
3048500058 NH IP HLX FISH CONSTITUTIONAL PANEL Panel? Custom List Aneuploidy panel (T13, T18, T21, X, Y)
SRY Deletion (Yp11.3) (peripheral or cord blood only)
Kallmann syndrome (Xp22.3) (peripheral or cord blood only)
DiGeorge/ Velocardiofacial syndrome (22q11.2) (peripheral or cord blood only)
Prader Willi/ Angelman syndrome (15q11.2) (peripheral or cord blood only)
Williams syndrome (7q11.23) (peripheral or cord blood only)
Yes
EPIC Components (results)