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Bloom Syndrome Carrier Screening

Test Catalog Information

Test Catalog Synonyms
EPIC Synonyms BLMSYN
Cerner Primary MnemonicBloom Syndrome
EPIC Display NameBloom Syndrome Carrier Screening
Allscripts (AEHR) Order Name

Bloom Syndrome

Sunrise Clinical Manager (SCM) Order Name

Bloom Syndrome

EPIC Inpatient Orderable Yes
EPIC Outpatient Orderable Yes
Cerner Results Bloom Syndrome
Clinical Info

Specimen Type

Blood

Container

Lavender Top Tube

Collection Instructions

Container/Tube:  Lavender-top (EDTA) tube(s)
Specimen:  10 mL of EDTA whole blood
Transport Temperature:  Ambient
Collection Instructions:
Note:  A signed “Patient Consent Form” is required for processing.

Transport Instructions

Ambient

Specimen Stability

Methodology

 
Genotyping by Next Generation Sequencing

Days Performed

Monday through Sunday
Results are available in 7 to 10 days.

Performing Laboratory

GenPath

CPT

81209

PDM

5907077

Desired Epic Build Bloom Syndrome Carrier Screening

Cerner Primary Mnemonic: Bloom Syndrome
PDM 5907077
Informatics - WorkgroupMolecular-send outs
Synonyms *BLMSYN
Display Name *Bloom Syndrome Carrier Screening
Order Entry Specimen Sources *
Order Entry Specimen Types
Blood
Specimen Navigator Specimen Types
Specimen Navigator Specimen Sources
Specimen Navigator Short Name
Ordering info (EPIC SmartText)
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
BLMSYN Bloom Syndrome 5907077

Actual Epic build

Procedure Id 115475
Pdm 5907077
Order Display Name Bloom Syndrome Carrier Screening
Procedure Name BLOOM SYNDROME
Procedure Master Number LAB11580
Short Procedure Name BLOOM SYNDROME
Category Code 15.0
Category Code Record Name LAB CYTOGENETICS ORDERABLES
Synonyms BLMSYN
Clinically Active
Orderable
Performable
Filter Genomics Generic Genomics Procedure
Reference Link Url https://labs.northwell.edu/epic/test/115475
Ordering Instructions
Default Specimen Type Blood
Specimen Type Pick List Blood
Specimen Type List
Op Specimen Type List
Specimen Source Pick List Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous
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
3047805405.0 BLOOM SYNDROME BLOOMSYN BLOOM SYNDROME 5907077