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DEB Fanconi Anemia Chromosome Breakage Analysis

Test Catalog Information

Test Catalog Synonyms
EPIC Synonyms DEBFAN
DEB Fancon Anemia Chromosomes
Cerner Primary MnemonicDEB Fancon Anemia Chromosomes
EPIC Display NameDEB Fanconi Anemia Chromosome Breakage Analysis
Allscripts (AEHR) Order Name

DEB Fancon Anemia, Chromosomes

Sunrise Clinical Manager (SCM) Order Name

DEB Fancon Anemia Chromosomes

EPIC Inpatient Orderable Yes
EPIC Outpatient Orderable Yes
Cerner Results DEB Fancon Anemia, Chromosomes
Clinical Info

This test is performed to detect induced chromosome breakage in cells from persons with suspected Fanconi anemia. Diepoxybutane (DEB)-induced chromosome breakage is significantly elevated in Fanconi anemia cells, compared to cells from unaffected individuals.

Specimen Type

Blood

Container

Dark Green

Collection Instructions

Container/Tube: Sodium Heparin (Green top) Tube
      Alternate Specimens: Whole blood collected in: sodium heparin (royal blue-top or tan-top, lead   free) tube  
Specimen: 10 mL whole blood ( 2 mL min)  Infants: 3 mL whole blood (2 mL min)
Transport Temperature: Room Temperature
 
Collection Instructions
Diagnostic test only. This test will not detect carriers of a Fanconi anemia gene mutation. Clinical history and reason for referral are required with test order. Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject. This test may be canceled and replaced by: Chromosome Analysis, Blood, No Growth, if the specimen does not yield mitotically active cells for analysis; or with a Cytogenetics Communication, if a communication is required.
 
Collection:
  Clinical history and reason for referral are required with this test.
Diagnostic test only. This test will not detect carriers of a Fanconi anemia gene mutation.
 

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Chromosome Breakage (DEB) • Tissue Culture

Days Performed

Sunday - Saturday am
Report available: 15 days

Performing Laboratory

Quest Diagnostics' Nichols Institute, Inc. - Chantilly

CPT

88230
88249

PDM

1759178

Desired Epic Build DEB Fanconi Anemia Chromosome Breakage Analysis

Cerner Primary Mnemonic: DEB Fancon Anemia Chromosomes
PDM 1759178
Informatics - WorkgroupMolecular-send outs
Synonyms *DEBFAN
DEB Fancon Anemia Chromosomes
Display Name *DEB Fanconi Anemia Chromosome Breakage 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) This test is performed to detect induced chromosome breakage in cells from persons with suspected Fanconi anemia. Diepoxybutane (DEB)-induced chromosome breakage is significantly elevated in Fanconi anemia cells, compared to cells from unaffected individuals.
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
DEBFANX DEB Fancon Anemia, Chromosomes 1759178A

Actual Epic build

Procedure Id 115477
Pdm 1759178
Order Display Name DEB Fanconi Anemia Chromosome Breakage Analysis
Procedure Name DEB FANCON ANEMIA CHROMOSOMES
Procedure Master Number LAB11581
Short Procedure Name DEB FANCON ANEMIA CHROMOSOMES
Category Code 15.0
Category Code Record Name LAB CYTOGENETICS ORDERABLES
Synonyms DEBFAN DEB FANCON ANEMIA CHROMOSOMES
Clinically Active
Orderable
Performable
Filter Genomics Generic Genomics Procedure
Reference Link Url https://labs.northwell.edu/epic/test/115477
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
3047802113.0 DEB FANCON ANEMIA, CHROMOSOMES DEBFANANEMCH DEB FANCON ANEMIA, CHROMOSOMES 1759178A