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Spinobulbar Muscular Atrophy (SBMA) Expansion Analysis

Test Catalog Information

Test Catalog Synonyms
EPIC Synonyms	SPINMUS
Cerner Primary Mnemonic	Spinobulbar Musc Atrophy
EPIC Display Name	Spinobulbar Muscular Atrophy (SBMA) Expansion Analysis
Allscripts (AEHR) Order Name	Spinobulbar Muscular Atrophy
Sunrise Clinical Manager (SCM) Order Name	Not Orderable
EPIC Inpatient Orderable	No
EPIC Outpatient Orderable	No
Cerner Results	SMA Reviewed By SMA Release Date SMA Result SMA Interp SMA Source SMA Method SMA Amendment SMDA Reason For Referral SMDA Specimen SMA Specimen ID SMA Order Date
Clinical Info	Molecular confirmation of clinically suspected cases of sporadic or familial spinobulbar muscular atrophy (SBMA) Presymptomatic testing for individuals with a family history of SBMA and a documented expansion in the androgen receptor (AR) gene
Specimen Type	Blood
Container	Lavender Top Tube
Collection Instructions	Informed Consent for Genetic Testing Required Container/Tube: Lavender (EDTA) Top Tube Specimen: 3 mL Whole Blood (0.5 mL min) Transport Temperature: Room Temperature Specimen Must arrive within 96 hours of draw.
Transport Instructions	Room Temperature
Specimen Stability
Methodology	A Polymerase Chain Reaction (PCR)-based assay is utilized to detect expansion-type mutations (CAG repeats) within the androgen receptor gene.
Days Performed	Tuesday; 10 a.m.
Performing Laboratory	Mayo Medical Laboratories
CPT	81204-AR (androgen receptor)(eg, spinal and bulba muscular atrophy, Kennedy disease, X chromosome inactivation) gene analysis; characterization of alleles (eg, expanded size or methylation status) LOINC Code: 35359-9
PDM	1553718

Desired Epic Build Spinobulbar Muscular Atrophy (SBMA) Expansion Analysis

Cerner Primary Mnemonic:

Spinobulbar Musc Atrophy

PDM

1553718

Informatics - Workgroup

Molecular-send outs

Synonyms *

SPINMUS

Display Name *

Spinobulbar Muscular Atrophy (SBMA) Expansion 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)

Molecular confirmation of clinically suspected cases of sporadic or familial spinobulbar muscular atrophy (SBMA) Presymptomatic testing for individuals with a family history of SBMA and a documented expansion in the androgen receptor (AR) gene

IP Orderable

OP Orderable

AOEs *

AP AOEs

Special History

Build Comments

Filter *

genetics

Procedure Category Change

Cerner Results

Result Desc	Result display	Result PDM
SMDA Released By	SMA Reviewed By	1553718C
SMDA Release Date	SMA Release Date	1553718B
SMDA Result	SMA Result	1553718B
SMDA Interp	SMA Interp	1553718E
SMDA Source	SMA Source	1553718I
SMDA Method	SMA Method	1553718F
SMDA Amendment	SMA Amendment	1553718D
Reason For Referral	SMDA Reason For Referral	1553718G
Specimen	SMDA Specimen	1553718K
SMDA Result Summary	SMA Specimen ID	1553718J
SMDA Order Date	SMA Order Date	1553718H

Current Actual EPIC Build as of 10/28/2024

Procedure Id

115561

Pdm

1553718

Order Display Name

Spinobulbar Muscular Atrophy (SBMA) Expansion Analysis

Procedure Name

SPINOBULBAR MUSC ATROPHY

Procedure Master Number

LAB11623

Short Procedure Name

SPINOBULBAR MUSC ATROPHY

Category Code

15.0

Category Code Record Name

LAB CYTOGENETICS ORDERABLES

Synonyms

SPINMUS

Clinically Active

Orderable

Performable

Filter Genomics

Generic Genomics Procedure

Reference Link Url

https://labs.northwell.edu/epic/test/115561

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

Op Orderable

EPIC OP AOEs

Question ID	Question Name	Question	Response Type	Response List	Require Response
3048500000	NH IP PATIENT COMPLETED CONSENT	Patient completed consent?	Yes/No		Yes

EPIC IP AOEs

Question ID	Question Name	Question	Response Type	Response List	Require Response
3048500000	NH IP PATIENT COMPLETED CONSENT	Patient completed consent?	Yes/No		Yes

EPIC Components (results)

Component ID	Component Name	Base Name	Common Name	Cerner Result PDM
3047804746	SMA REVIEWED BY	SMAREVBY	SMA REVIEWED BY	1553718C
3047805797	SMA RESULT	SMA	SMA RESULT	1553718B
3047805797	SMA RESULT	SMA	SMA RESULT	1553718B
3047804750	SMDA INTERP	SMDAINT	SMDA INTERP	1553718E
3047804747	SMA SOURCE	SMASOURCE	SMA SOURCE	1553718I
3047804744	SMA METHOD	SMAMETH	SMA METHOD	1553718F
3047804743	SMA AMENDMENT	SMAAMEND	SMA AMENDMENT	1553718D
3047804751	SMDA REASON FOR REFERRAL	SMDAREAREF	SMDA REASON FOR REFERRAL	1553718G
3047804752	SMDA SPECIMEN	SMDASPEC	SMDA SPECIMEN	1553718K
3047804748	SMA SPECIMEN ID	SMASPECID	SMA SPECIMEN ID	1553718J
3047804745	SMA ORDER DATE	SMAORDDT	SMA ORDER DATE	1553718H

EPIC Test Compendium Alpha Welcome to the new Northwell Health Labs Test Directory, please call our Client Services Department at 1-800-472-5757 with any typos, corrections or issues.

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Spinobulbar Muscular Atrophy (SBMA) Expansion Analysis

Test Catalog Information

Desired Epic Build Spinobulbar Muscular Atrophy (SBMA) Expansion Analysis

Current Actual EPIC Build as of 10/28/2024

EPIC Test Compendium Alpha
Welcome to the new Northwell Health Labs Test Directory, please call our Client Services Department at 1-800-472-5757 with any typos, corrections or issues.