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Alpha-1 Antitrypsin Deficiency, DNA Analysis

Test Catalog Information

Test Catalog Synonyms
EPIC Synonyms AATMUT
Alpha-1 Antitrypsin Mutation
Alpha-1 Antitrypsin Genotype
Cerner Primary MnemonicAlpha-1 Antitrypsin Mutation
EPIC Display NameAlpha-1 Antitrypsin Deficiency, DNA Analysis
Allscripts (AEHR) Order Name

Alpha-1 Antitrypsin Mutation

Sunrise Clinical Manager (SCM) Order Name

Alpha-1 Antitrypsin Mutation

EPIC Inpatient Orderable Yes
EPIC Outpatient Orderable Yes
Cerner Results Alpha-1 Antitrypsin Mutation
Electronic Signature
Additional Information
Clinical Info

DNA-based determination of the two common alleles underlying α1-antitrypsin deficiency associated with chronic obstructive pulmonary disease (COPD) and childhood-onset liver disease. Prenatal testing is available.
Limitations  Tests for the two most common mutations, S and Z. Rare alleles, null or otherwise, are not detected by this assay.

Specimen Type

Blood

Container

Lavender Top Tube

Collection Instructions

Container/Tube:  Lavender EDTA tube or Amniotic Fluid
Specimen: 5 ml Whole EDTA Blood  (3 mL min), 10 mL Amniotic Fluid(5mL min)
Transport Temperature: Room Temperature or Refrigerated

Transport Instructions

Room Temperature or Refrigerated

Specimen Stability

Methodology

Multiplex allele-specific polymerase chain reaction (PCR) and gel electrophoresis  

Days Performed

Performing Laboratory

LabCorp

CPT

81332

PDM

5901830

Desired Epic Build Alpha-1 Antitrypsin Deficiency, DNA Analysis

Cerner Primary Mnemonic: Alpha-1 Antitrypsin Mutation
PDM 5901830
Informatics - WorkgroupMolecular-send outs
Synonyms *AATMUT
Alpha-1 Antitrypsin Mutation
Alpha-1 Antitrypsin Genotype
Display Name *Alpha-1 Antitrypsin Deficiency, DNA 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)DNA-based determination of the two common alleles underlying α1-antitrypsin deficiency associated with chronic obstructive pulmonary disease (COPD) and childhood-onset liver disease. Prenatal testing is available.
Limitations  Tests for the two most common mutations, S and Z. Rare alleles, null or otherwise, are not detected by this assay.
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
AATMUT Alpha-1 Antitrypsin Mutation 5901830
BRL ES Electronic Signature 5908905H
PDGFRBAI Additional Information 1759247I

Actual Epic build

Procedure Id 115417
Pdm 5901830
Order Display Name Alpha-1 Antitrypsin Deficiency, DNA Analysis
Procedure Name ALPHA-1 ANTITRYPSIN MUTATION
Procedure Master Number LAB11551
Short Procedure Name ALPHA-1 ANTITRYPSIN MUTATION
Category Code 15.0
Category Code Record Name LAB CYTOGENETICS ORDERABLES
Synonyms AATMUT ALPHA-1 ANTITRYPSIN MUTATION ALPHA-1 ANTITRYPSIN GENOTYPE
Clinically Active
Orderable
Performable
Filter Genomics Generic Genomics Procedure
Reference Link Url https://labs.northwell.edu/epic/test/115417
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 ["3048500036", "3048500037", "3045300089", "3048500000"]
Order Questions Record Name NH IP ETHNICITY CUSTOM LIST NH IP RACE CUSTOM LIST NH IP INDICATION FOR TEST (FREE TEXT)
Inpatient Order Questions ["3048500036", "3048500037", "3045300089", "3048500000"]
Inpatient Order Questions Record Name NH IP ETHNICITY CUSTOM LIST NH IP RACE CUSTOM LIST NH IP INDICATION FOR TEST (FREE TEXT)
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
3045300089 NH IP INDICATION FOR TEST (FREE TEXT) Indication for test Free Text No
3048500000 NH IP PATIENT COMPLETED CONSENT Patient completed consent? Yes/No Yes
3048500036 NH IP ETHNICITY CUSTOM LIST
3048500037 NH IP RACE CUSTOM LIST Race: Custom List African American
Asian
Native American
Hawaiin
Caucasian
Other
Unknown
No
EPIC IP AOEs

Question IDQuestion NameQuestionResponse TypeResponse ListRequire Response
3045300089 NH IP INDICATION FOR TEST (FREE TEXT) Indication for test Free Text No
3048500000 NH IP PATIENT COMPLETED CONSENT Patient completed consent? Yes/No Yes
3048500036 NH IP ETHNICITY CUSTOM LIST
3048500037 NH IP RACE CUSTOM LIST Race: Custom List African American
Asian
Native American
Hawaiin
Caucasian
Other
Unknown
No
EPIC Components (results)

Component IDComponent NameBase NameCommon NameExternal NameCerner Result PDM
3047800951.0 ALPHA-1 ANTITRYPSIN MUTATION A1ANTITRYPMU ALPHA 1 ANTITRYPSIN MUTATION 5901830
3047802292.0 ELECTRONIC SIGNATURE ELECTSIGNAT ELECTRONIC SIGNATURE 5908905H
3047800866.0 ADDITIONAL INFORMATION ADDINFO ADDITIONAL INFORMATION 1759247I