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Prenatal Skeletal Dysplasia

Test Catalog Information

Test Catalog Synonyms
EPIC Synonyms PN SkelDys
Cerner Primary MnemonicPrenatal Skeletal Dysplasia
EPIC Display NamePrenatal Skeletal Dysplasia
Allscripts (AEHR) Order Name

Not Orderable

Sunrise Clinical Manager (SCM) Order Name

Not Orderable

EPIC Inpatient Orderable Yes
EPIC Outpatient Orderable Yes
Cerner Results Prenatal Skeletal Dysplasia Panel
Clinical Info

Prenatal diagnosis in a fetus based on ultrasound findings suggestive of a skeletal dysplasia Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies Distinguish between causes and forms of skeletal dysplasias Genetic counseling, especially regarding recurrence risk

Specimen Type

Container

Sterile Tube

Collection Instructions

Container/Tube:  Sterile Vial
Specimen: 20 mL Amniotic Fluid
Transport Temperature: Room Temperature

Transport Instructions

Room Temperature

Specimen Stability

Methodology

 Next-gen Sequencing
 

Days Performed

Performing Laboratory

GeneDx

CPT

81404x2
81408x2
81265x1
81479x2

PDM

1659874

Desired Epic Build Prenatal Skeletal Dysplasia

Cerner Primary Mnemonic: Prenatal Skeletal Dysplasia
PDM 1659874
Informatics - WorkgroupMolecular-send outs
Synonyms *PN SkelDys
Display Name *Prenatal Skeletal Dysplasia
Order Entry Specimen Sources *
Order Entry Specimen Types
Amniotic Fluid
Specimen Navigator Specimen Types
Specimen Navigator Specimen Sources
Specimen Navigator Short Name
Ordering info (EPIC SmartText) Prenatal diagnosis in a fetus based on ultrasound findings suggestive of a skeletal dysplasia Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies Distinguish between causes and forms of skeletal dysplasias Genetic counseling, especially regarding recurrence risk
IP Orderable Yes
OP Orderable Yes
AOEs *

AP AOEs
Special History No
Build Comments
Filter *genetics
Procedure Category Change
Cerner Results

Result DescResult displayResult PDM
PN Skel Dyspl Prenatal Skeletal Dysplasia Panel 1659874A

Current Actual EPIC Build as of 10/28/2024

Procedure Id 115599
Pdm 1659874
Order Display Name Prenatal Skeletal Dysplasia
Procedure Name PRENATAL SKELETAL DYSPLASIA
Procedure Master Number LAB11642
Short Procedure Name PRENATAL SKELETAL DYSPLASIA
Category Code 15.0
Category Code Record Name LAB CYTOGENETICS ORDERABLES
Synonyms PN SKELDYS
Clinically Active
Orderable
Performable
Filter Genomics Generic Genomics Procedure
Reference Link Url https://labs.northwell.edu/epic/test/115599
Ordering Instructions
Default Specimen Type Amniotic Fluid
Specimen Type Pick List Amniotic Fluid
Specimen Type List
Op Specimen Type List
Specimen Source Pick List Amniotic Sac
Specimen Source Default - Male
Specimen Source Default - Female
Specimen Source List
Op Specimen Source List
Ip Lab Test Components For Report
Op Lab Test Components For Report
Order Questions ["3048500000"]
Order Questions Record Name
Inpatient Order Questions ["3048500000"]
Inpatient Order Questions Record Name
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
EPIC IP AOEs

Question IDQuestion NameQuestionResponse TypeResponse ListRequire Response
3048500000 NH IP PATIENT COMPLETED CONSENT Patient completed consent? Yes/No Yes
EPIC Components (results)

Component IDComponent NameBase NameCommon NameExternal NameCerner Result PDM
3047804247 PRENATAL SKELETAL DYSPLASIA PANEL PRENATSKEL PRENATAL SKELETAL DYSPLASIA PANEL 1659874A