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Glucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies

Test Catalog Information

Test Catalog Synonyms
EPIC Synonyms UGT1A1, Full Gene Sequencing
Cerner Primary MnemonicUGT1A1, Full Gene Sequencing
EPIC Display NameGlucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies
Allscripts (AEHR) Order Name

UGT1A1, Full Gene Sequencing

Sunrise Clinical Manager (SCM) Order Name

Uridine Diphosphate Glucuronosyltransferase (UG

EPIC Inpatient Orderable Yes
EPIC Outpatient Orderable Yes
Cerner Results Disclaimer
Result Summary
Interpretation
FULL Gene Sequence Result
Additional Information
REVIEWEDBY
TA Repeat Result
Method
Clinical Info

Identifying individuals who are at increased risk of adverse drug reactions with drugs that are metabolized by UGT1A1; especially irinotecan but also atazanavir, nilotinib, pazopanib, and belinostat Identifying individuals with Gilbert syndrome due to the presence of homozygous UGT1A1*6 (c.211G>A, based on NM_000463.2) allele, TA7, homozygous TA8, or compound heterozygous *6, TA7 or TA8 Identifying individuals who are carriers of Gilbert syndrome due to the presence of heterozygous TA7 or TA8 This test is not useful for assessment of Crigler-Najjar syndrome.

Specimen Type

Blood

Container

Lavender Top Tube

Collection Instructions

Submit only 1 of the following specimens: Specimen Type: Whole blood Container/Tube: Adults: Lavender top (EDTA) Pediatrics: Purple microtube Specimen Adults: 3 mL( 0.45 mL min) Pediatrics: 1 mL Collection Instructions: 1. Invert several times to mix blood. 2. Send specimen in original tube. Do not aliquot. Specimen Stability Information: Ambient (preferred) 9 days/Refrigerated 30 days Specimen Type: Saliva Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection. Container/Tube: Saliva Swab Collection Kit Volume: One swab Collection Instructions: Collect and send specimen per kit instructions. Specimen Stability Information: Ambient 30 days

Transport Instructions

Room Temperature

Specimen Stability

Whole Blood 9 Days Room Temperature 30 Days Refrigerated Saliva 30 Days Room Temperature Extracted DNA Frozen/Room Temperature/Refrigerated

Methodology

Polymerase Chain Reaction (PCR) followed by DNA Sequence Analysis

Days Performed

TAT 8-15 Days.

Performing Laboratory

Mayo Medical Laboratories

CPT

81404 LOINC Code 93844-9

PDM

1759385

Desired Epic Build Glucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies

Cerner Primary Mnemonic: UGT1A1, Full Gene Sequencing
PDM 1759385
Informatics - WorkgroupMolecular-send outs
Synonyms *UGT1A1, Full Gene Sequencing
Display Name *Glucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies
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)Identifying individuals who are at increased risk of adverse drug reactions with drugs that are metabolized by UGT1A1; especially irinotecan but also atazanavir, nilotinib, pazopanib, and belinostat Identifying individuals with Gilbert syndrome due to the presence of homozygous UGT1A1*6 (c.211G>A, based on NM_000463.2) allele, TA7, homozygous TA8, or compound heterozygous *6, TA7 or TA8 Identifying individuals who are carriers of Gilbert syndrome due to the presence of heterozygous TA7 or TA8 This test is not useful for assessment of Crigler-Najjar syndrome.
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
PDGFRBD Disclaimer 1759247J
PDGFRBRS Result Summary 1759247A
PDGFRBINT Interpretation 1759247B
FULLGSQR FULL Gene Sequence Result 1759385F
PDGFRBAI Additional Information 1759247I
REVIEWEDBY REVIEWEDBY 1759385G
TAREPEATR TA Repeat Result 1759385E
PDGFRBMTH Method 1759247H

Actual Epic build

Procedure Id 115413
Pdm 1759385
Order Display Name Glucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies
Procedure Name UGT1A1, FULL GENE SEQUENCING
Procedure Master Number LAB11549
Short Procedure Name UGT1A1, FULL GENE SEQUENCING
Category Code 15.0
Category Code Record Name LAB CYTOGENETICS ORDERABLES
Synonyms UGT1A1, FULL GENE SEQUENCING
Clinically Active Yes
Orderable Yes
Performable Yes
Filter Genomics Generic Genomics Procedure
Reference Link Url https://labs.northwell.edu/epic/test/115413
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 ["3045300170", "3045300171", "3045300173"]
Order Questions Record Name NH IP HOME COLLECT DATE NH IP HOME COLLECT DAYS NH IP HOME COLLECT MEDICALLY NECESSARY
Inpatient Order Questions ["3048500000"]
Inpatient Order Questions Record Name
Order Specific Question Override Yes
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
3045300170 NH IP HOME COLLECT DATE Start Date Date Yes
3045300171 NH IP HOME COLLECT DAYS Days Custom List Monday
Tuesday
Wednesday
Thursday
Friday
Saturday
Sunday
Yes
3045300173 NH IP HOME COLLECT MEDICALLY NECESSARY Medically Necessary? 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
3047805469.0 PDGFRB DISCLAIMER DISCLAIM PDGFRB DISCLAIMER 1759247J
3047805635.0 RESULT SUMMARY RESULTSUMM RESULTSUMM, SUMMARY 1759247A
3047805536.0 PDGFRB INTERPRETATION INTERP PDGFRB INTERPRETATION 1759247B
3047802526.0 FULL GENE SEQUENCE RESULT FULLGENSEQ FULL GENE SEQUENCE RESULT 1759385F
3047800866.0 ADDITIONAL INFORMATION ADDINFO ADDITIONAL INFORMATION 1759247I
3047804560.0 REVIEWEDBY REVIEWEDBY REVIEWEDBY 1759385G
3047804908.0 TA REPEAT RESULT TAREPT TA REPEAT RESULT 1759385E
3047803486.0 METHOD METHOD METHOD 1759247H