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FISH Constitutional

Desired Epic Build * = editable field  

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
Specimen Sources (combined Order Entry and Specimen Navigator) *
Amniotic Sac
Specimen Types (combined Order Entry and Specimen Navigator) *
Blood
Amniotic Fld
Tissue
Products of Conception
CVS
HLX Cord Blood
Body Fluids (types sent through AOEs)
Specimen Navigator Specimen Types
Aspirate
Body Fluid
Specimen Navigator Specimen Sources
Left
No Laterality
Right
Abdomen/Peritoneum
Abscess
Adrenal
Amniotic Sac
Anus
Appendix
Ascites
Autopsy
Autopsy Brain Only
Autopsy Pediatric
Axilla
Bile
Bile Duct
Bone
Bone Marrow
Brain
Breast
Bronchial
Bronchoalveolar
Buccal
CSF
Colon
Cul de sac
Dialysate
Duodenum
Ear
Endometrium
Esophagus
Extranodal Lymphoid
Eye
Fallopian Tube
Gallbladder
Gingiva
Ileum
Jejunum
Joint
Kidney
Larynx
Liver
Lung
Lymph Node
Mediastinum
Meninges/Dura
Misc
Muscle
Nasopharynx
Nip
Nipple
Specimen Navigator Short NameFISH Constitutional
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 (inpatient) Yes
OP Orderable (outpatient) Yes
AOEs *

AP AOEs
Special History No
Build Commentsplease pull the last 10 results
Filter *genetics
Cerner Site Restrict
Cerner Results

Actual Epic Build 3/11/2025

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)                                                                                                                                                                                             
                                                                                           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)
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
Misc
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
Skin
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
STANDARD LAB COMPONENTS
STANDARD LAB COMPONENTS RECORD NAME
COMPONENT DATA REQUIREMENT
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 - crosswalked through Cerner)