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Huntington Disease, Molecular Analysis

Test Catalog Information

Test Catalog Synonyms
EPIC Synonyms HAD
Cerner Primary MnemonicHuntington Disease Analysis
EPIC Display NameHuntington Disease, Molecular Analysis
Allscripts (AEHR) Order Name

Huntington Disease Analysis

Sunrise Clinical Manager (SCM) Order Name

Huntington Disease Analysis

EPIC Inpatient Orderable Yes
EPIC Outpatient Orderable Yes
Cerner Results Referral Reason
Interpretation
Result
Result Summary
Released By
Source
Specimen
Clinical Info

Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder caused by a CAG repeat expansion in the HTT gene. HD is associated with cognitive impairment leading to dementia and a wide range of neuropsychiatric problems including apathy, depression, anxiety, and other behavioral disturbances. Additionally, affected individuals typically develop extrapyramidal symptoms (eg, dystonia, dysarthria, chorea, gait disturbance, postural instability, oculomotor dysfunction).

Specimen Type

Blood

Container

Lavender Top Tube

Collection Instructions

Container/Tube: Lavender Top (EDTA) Tube or Yellow ACD Specimen: 3 mL whole blood(1mL min) Transport Temperature: Room Temperature Stability: Specimens preferred to arrive within 96 hours of the draw Required: Informed Consent Form (See Forms)

Transport Instructions

Room Temperature

Specimen Stability

Specimens preferred to arrive within 96 hours of the draw Required: Informed Consent Form (See Forms)

Methodology

Polymerase Chain Reaction (PCR)

Days Performed

TAT 5 - 12 Days

Performing Laboratory

Mayo Medical Laboratories

CPT

81271 LOINC Code: 21763-8

PDM

225700

Desired Epic Build Huntington Disease, Molecular Analysis

Cerner Primary Mnemonic: Huntington Disease Analysis
PDM 225700
Informatics - WorkgroupMolecular-send outs
Synonyms *HAD
Display Name *Huntington Disease, Molecular Analysis
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)Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder caused by a CAG repeat expansion in the HTT gene. HD is associated with cognitive impairment leading to dementia and a wide range of neuropsychiatric problems including apathy, depression, anxiety, and other behavioral disturbances. Additionally, affected individuals typically develop extrapyramidal symptoms (eg, dystonia, dysarthria, chorea, gait disturbance, postural instability, oculomotor dysfunction).
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
HADREFREASON Referral Reason 225700D
HADINT Interpretation 225700C
HADRES Result 225700B
HADRESSUM Result Summary 225700A
HADRELBY Released By 225700G
HADSRC Source 225700F
HADSPEC Specimen 225700E

Actual Epic build

Procedure Id 67478
Pdm 225700
Order Display Name Huntington Disease, Molecular Analysis
Procedure Name HUNTINGTON DISEASE
Procedure Master Number LAB1802
Short Procedure Name HUNTINGTON D
Category Code 21.0
Category Code Record Name LAB MOLECULAR DIAGNOSTICS ORDERABLES
Synonyms HAD
Clinically Active Yes
Orderable Yes
Performable
Filter Genomics Generic Genomics Procedure
Reference Link Url https://labs.northwell.edu/epic/test/67478
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 Blood, Venous
Specimen Source Default - Female Blood, Venous
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
3047804495.0 REFERRAL REASON REFRSON REFERRAL REASON 225700D
3047805534.0 HUNTINGTON DISEASE ANALYSIS INTERPRETATION INTERP HUNTINGTON DISEASE ANALYSIS INTERPRETATION 225700C
3047805632.0 HUNTINGTON DISEASE ANALYSIS RESULT HDA HDA, RESULT 225700B
3047805634.0 HUNTINGTON DISEASE ANALYSIS RESULT SUMMARY HDA HDA, SUMMARY 225700A
3047804523.0 RELEASED BY RELEASEDBY RELEASED BY 225700G
3047805653.0 HUNTINGTON DISEASE ANALYSIS SOURCE SOURCE SOURCE, SOURCE 225700F
3047804797.0 SPECIMEN SPECIMEN SPECIMEN 225700E