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Ashkenazi Jewish 25 Carrier Screening

Test Catalog Information

Test Catalog Synonyms
EPIC Synonyms AJ carrier screen
Ashkjew 25
Cerner Primary MnemonicAshkenazi Jewish 25
EPIC Display NameAshkenazi Jewish 25 Carrier Screening
Allscripts (AEHR) Order Name

Not Orderable

Sunrise Clinical Manager (SCM) Order Name

Not Orderable

EPIC Inpatient Orderable No
EPIC Outpatient Orderable No
Cerner Results Galactosemia Carrier Screen
Abetalipoproteinemia
Tyrosinemia, Type 1
Wilson Disease Carrier Screen
Ashkenazi Jewish 17
Hermansky-Pudlak
Spinal Muscular Atrophy
Expanded Cystic Fibrosis Panel
Familial Hypercholesterolemia
Clinical Info

Screens for carrier status of 25 inherited genetic conditions that occur frequently in those with Eastern European (Ashkenazi) Jewish ancestry. All of the diseases included in the Ashkenazi Jewish panel are disorders inherited in an autosomal recessive ma

Specimen Type

Container

Lavender Top Tube

Collection Instructions

Container/Tube: Lavender top tube(s) Specimen: Whole Blood 3 ml's Transport Temperature: Refrigerated Note: Requires Ethnicity (required for interpretation)

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Genotyping by Next-generation sequencing (NGS) Includes TAY-Sachs DNA, Niemann Pick Type A+B, Mucolipidosis Type IV, Gaucher Carrier Screen, Fanconi Anemia, Type C,  Canavan Disease, Bloom Syndrome, Familial Dysautonomia  Abetalipoproteinemia, Tyrosine Type 1,Nemaline Myopathy, Hermansky-Pudlak, Familial Hypercholester, Galactosemia Carrier Screen, Wilson Disease Carrier, Spinal Muscular .Atrophy,  Expanded Cystic Fibrosis Panel, Joubert Syndrome 2, Glycogen Storage Disease Type Ia, Usher Syndrome Type 1F, Usher Syndrome Type 3, Maple Syrup Syndrome, Maple Syrup Urine Disease, Dihydrolipoamide, Walker-Warberg.

Days Performed

TAT: 11 - 16 Day

Performing Laboratory

BioReference Laboratories-GenPath

CPT

81412

PDM

1659849

Desired Epic Build Ashkenazi Jewish 25 Carrier Screening

Cerner Primary Mnemonic: Ashkenazi Jewish 25
PDM 1659849
Informatics - WorkgroupMolecular-send outs
Synonyms *AJ carrier screen
Ashkjew 25
Display Name *Ashkenazi Jewish 25 Carrier Screening
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)Screens for carrier status of 25 inherited genetic conditions that occur frequently in those with Eastern European (Ashkenazi) Jewish ancestry. All of the diseases included in the Ashkenazi Jewish panel are disorders inherited in an autosomal recessive ma
IP Orderable No
OP Orderable No
AOEs *

AP AOEs
Special History No
Build Comments
Filter *genetics
Procedure Category Change
Cerner Results

Result DescResult displayResult PDM
Galacto Scr Galactosemia Carrier Screen 1659849E
Abetalipoprot Abetalipoproteinemia 1659849A
Tyrosinemia 1 Tyrosinemia, Type 1 1659849B
Wilson Disease Wilson Disease Carrier Screen 1659849F
Ashk Jewish 17 Ashkenazi Jewish 17 1659843A
Hermansky-Pud Hermansky-Pudlak 1659849C
SMA Spinal Muscular Atrophy 5910160
CFPLUS Expanded Cystic Fibrosis Panel 5906098
Fam Hyperchol Familial Hypercholesterolemia 1659849D

Actual Epic build

Procedure Id 115567
Pdm 1659849
Order Display Name Ashkenazi Jewish 25 Carrier Screening
Procedure Name ASHKENAZI JEWISH 25
Procedure Master Number LAB11626
Short Procedure Name ASHKENAZI JEWISH 25
Category Code 15.0
Category Code Record Name LAB CYTOGENETICS ORDERABLES
Synonyms AJ CARRIER SCREEN ASHKJEW 25
Clinically Active No
Orderable
Performable
Filter Genomics Generic Genomics Procedure
Reference Link Url https://labs.northwell.edu/epic/test/115567
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 0
Op Orderable 0
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
3047802542.0 GALACTOSEMIA CARRIER SCREEN GALACTOSESCR GALACTOSEMIA CARRIER SCREEN 1659849E
3047805362.0 ABETALIPOPROTEINEMIA RESULT ABETALIPO ABETALIPOPROTEINEMIA RESULT 1659849A
3047805147.0 TYROSINEMIA, TYPE 1 TYROTY1 TYROSINEMIA, TYPE 1 1659849B
3047805288.0 WILSON DISEASE CARRIER SCREEN WILDIS WILSON DISEASE CARRIER SCREEN 1659849F
3047801194.0 ASHKENAZI JEWISH 17 ASHKENJ17 ASHKENAZI JEWISH 17 1659843A
3047802777.0 HERMANSKY-PUDLAK HERMANPUD HERMANSKY-PUDLAK 1659849C
3047805655.0 SMA INTERPRETATION INTERP INTERP, INTERPRETATION 5910160
3047802379.0 EXPANDED CYSTIC FIBROSIS PANEL CYSTFIBEXPAN EXPANDED CYSTIC FIBROSIS PANEL 5906098
3047802410.0 FAMILIAL HYPERCHOLESTEROLEMIA HYPCHFAM FAMILIAL HYPERCHOLESTEROLEMIA 1659849D