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Prenatal Tuberous Sclerosis

Test Catalog Information

Test Catalog Synonyms
EPIC Synonyms PN TS Pnl
Cerner Primary MnemonicPrenatal Tuberous Sclerosis
EPIC Display NamePrenatal Tuberous Sclerosis
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 TSC1 + TSC2 Gene Sequence
Clinical Info

Full gene sequencing and exon-level deletion/duplication for fetuses with prenatal ultrasound findings suggestive of TSC. Variant-specific testing for fetuses with a family history of a known TSC1 or TSC2 pathogenic variant.

Specimen Type

Container

Sterile Tube

Collection Instructions

Container/Tube:  Lavender top tube
Specimen: 2 - 5 mL whole blood
Transport Temperature: Room Temperature

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Exon Array CGH, Next-gen Sequencing
 

Days Performed

Performing Laboratory

GeneDx

CPT

81405
81406x2
81407
81265

PDM

1659873

Desired Epic Build Prenatal Tuberous Sclerosis

Cerner Primary Mnemonic: Prenatal Tuberous Sclerosis
PDM 1659873
Informatics - WorkgroupMolecular-send outs
Synonyms *PN TS Pnl
Display Name *Prenatal Tuberous Sclerosis
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) Full gene sequencing and exon-level deletion/duplication for fetuses with prenatal ultrasound findings suggestive of TSC. Variant-specific testing for fetuses with a family history of a known TSC1 or TSC2 pathogenic variant.
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 TCS1+2 Gene Prenatal TSC1 + TSC2 Gene Sequence 1659873A

Actual Epic build

Procedure Id 115601
Pdm 1659873
Order Display Name Prenatal Tuberous Sclerosis
Procedure Name PRENATAL TUBEROUS SCLEROSIS
Procedure Master Number LAB11643
Short Procedure Name PRENATAL TUBEROUS SCLEROSIS
Category Code 15.0
Category Code Record Name LAB CYTOGENETICS ORDERABLES
Synonyms PN TS PNL
Clinically Active
Orderable
Performable
Filter Genomics Generic Genomics Procedure
Reference Link Url https://labs.northwell.edu/epic/test/115601
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
3047804248.0 PRENATAL TSC1 + TSC2 GENE SEQUENCE PRENATTSC12 PRENATAL TSC1 + TSC2 GENE SEQUENCE 1659873A