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 Mnemonic | HLX FISH Constitutional CASE |
| EPIC Display Name | FISH 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 - Workgroup | Cytogenetics/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 |
Body Fluid
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| Specimen Navigator Specimen Types | |
| Specimen Navigator Specimen Sources | |
| Specimen Navigator Short Name | FISH |
| 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 Comments | please pull the last 10 results |
| Filter * | genetics |
| Procedure Category Change | |
| Cerner Results | |
Current Actual EPIC Build as of 10/28/2024
| 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):Â Â Â
                                               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)                                                                                                                                                                                                               |
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| 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 | ||||||||||||||||||
| Specimen Source Default - Male | |||||||||||||||||||
| Specimen Source Default - Female | |||||||||||||||||||
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| 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 | |||||||||||||||||||
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| Location Restrict List Ip | |||||||||||||||||||
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| Edp Amb Order Specific Questions Record Name | NH IP PATIENT COMPLETED CONSENT | ||||||||||||||||||
| Edp Ip Order Specific Questions Record Name | NH IP PATIENT COMPLETED CONSENT | ||||||||||||||||||
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| Ip Orderable | 1 | ||||||||||||||||||
| Op Orderable | 1 | ||||||||||||||||||
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