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Foresight TM Carrier Screen (UCS)

Desired Epic Build * = editable field

Cerner Primary Mnemonic:

Foresight TM Carrier Screen (UCS)

PDM

145000601

Informatics - Workgroup

Molecular-send outs

Synonyms *

Display Name *

Foresight TM Carrier Screen (UCS)

Specimen Sources (combined Order Entry and Specimen Navigator) *

Specimen Types (combined Order Entry and Specimen Navigator) *

Blood

Body Fluids (types sent through AOEs)

Specimen Navigator Specimen Types

Specimen Navigator Specimen Sources

Specimen Navigator Short Name

Ordering info (EPIC SmartText)

Screen measures 176 conditions associated with serious and prevalent inherited conditions

IP Orderable (inpatient)

Yes

OP Orderable (outpatient)

Yes

AOEs *

AP AOEs

Special History

Build Comments

Filter *

genetics

Cerner Site Restrict

AML/Quest Labs
ARUP Laboratories
ARUP Laboratory
BioReference Health LLC
Cohen Children General Peds at Mineola
Cohen Children's General Peds at Islandi
Counsyl Laboratory
EHS Mobile 1 Marcus POC
Eurofins_NTD Genetics
Executive Headquarters-2000 Marcus
Family Service League-92473
Forest Hills Hospital Laboratory
Gene DX Laboratory
Glen Cove Hospital Laboratory
Hofstra University POC
Huntington Hospital Laboratory
Illumina Laboratories
Jet Blue Terminal 5 POC
Jones Beach Theater
LIJ Valley Stream Hospital Laboratory
LabCorp
Lenox Health Greenwich Village
Lenox Hill Laboratory
Long Island Ducks POC
Long Island Jewish Med Ctr

Manhattan Eye
Ear & Throat Hospital Lab
Mayo Medical Labs
Mid Suffolk Pediatrics-Mt Sinai-5975
NHPP Cohen's General Peds at Kew Gardens
NHPP Medical Oncology at Woodbury
Nassau County DOH POC
Natera Laboratory
North Shore University Laboratory
Northern Westchester Hospital Labs
Northshore Holiday House
Northwell Health Best Health Center
Northwell Health Direct-Special Events
Northwell He

Cerner Results

Result Desc	Result display	Result PDM
Walker-Warburg syndrome	CSYL1024	7901118
Krabbe disease	CSYL97	7901050
Bardet-Biedl syndrome, BBS10-related	CSYL190	7901084
Aspartylglycosaminuria	CSYL16	7901008
Carnitine palmitoyltransferase II deficiency	CSYL32	7901017
Familial Mediterranean fever	CSYL58	7901031
Lipoamide dehydrogenase deficiency	CSYL101	7901051
Nijmegen breakage syndrome	CSYL124	7901061
Sjogren-Larsson syndrome	CSYL142	7901071
Cartilage-hair hypoplasia	CSYL33	7901018
Biotinidase deficiency	CSYL25	7901013
Inclusion body myopathy 2	CSYL77	7901042
congenital disorder of glycosylation type Ic	CSYL1338	7901196
Fanconi anemia complementation group A	CSYL1127	7901143
lysosomal acid lipase deficiency	CSYL1101	7901137
methylmalonic acidemia, cblB type	CSYL1156	7901158
ornithine transcarbamylase deficiency	CSYL1179	7901167
primary hyperoxaluria type 3	CSYL1185	7901169
pyruvate carboxylase deficiency	CSYL1191	7901172
Costeff optic atrophy syndrome	CSYL1021	7901097
Glycogen storage disease type Ia	CSYL72	7901037
Bardet-Biedl syndrome, BBS1-related	CSYL189	7901083
Ataxia-telangiectasia	CSYL18	7901010
Congenital Finnish nephrosis	CSYL43	7901027
Maple syrup urine disease type 1B	CSYL103	7901053
Wilson disease	CSYL154	7901079
NEB-related nemaline myopathy	CSYL1008	7901091
Andermann syndrome	CSYL7	7901002
Carnitine palmitoyltransferase IA deficiency	CSYL31	7901016
Universal Carrier Screen	UCS	145000601
Gaucher disease	CSYL67	7901034
adenosine deaminase deficiency	CSYL1082	7901127
dystrophinopathy (including Duchenne/Becker muscular dystrop	CSYL1115	7901139
EVC-related Ellis-van Creveld syndrome	CSYL1232	7901190
Fabry disease	CSYL1122	7901141
gamma-sarcoglycanopathy	CSYL1148	7901152
GLB1-related disorders	CSYL1134	7901146
methylmalonic aciduria and homocystinuria, cblC type	CSYL1157	7901159
mucopolysaccharidosis type IIIA	CSYL117	7901122
MYO7A-related disorders	CSYL1208	7901181
peroxisome biogenesis disorder type 3	CSYL1216	7901187
peroxisome biogenesis disorder type 5	CSYL1217	7901188
peroxisome biogenesis disorder type 6	CSYL1214	7901185
xeroderma pigmentosum group A	CSYL1213	7901184
X-linked congenital adrenal hypoplasia	CSYL1259	7901193
X-linked myotubular myopathy	CSYL1340	7901197
Cystic fibrosis	CSYL34	7901019
Phenylalanine hydroxylase deficiency	CSYL130	7901064
Usher syndrome type 3	CSYL152	7901077
Muscle-eye-brain disease	CSYL120	7901059
Rhizomelic chondrodysplasia punctata type 1	CSYL139	7901069
Fanconi anemia type C	CSYL59	7901032
Glutaric acidemia type 1	CSYL71	7901036
homocystinuria / cystathionine beta-synthase deficiency	CSYL87	7901046
Primary hyperoxaluria type 1	CSYL90	7901047
Hurler syndrome	CSYL116	7901058
Glycogen storage disease type Ib	CSYL73	7901038
Canavan disease	CSYL30	7901015
Isovaleric acidemia	CSYL96	7901049
Pompe disease	CSYL74	7901039
Primary carnitine deficiency	CSYL1018	7901094
Herlitz junctional epidermolysis bullosa, LAMB3-related	CSYL192	7901086
AMT-related glycine encephalopathy	CSYL1130	7901144
argininosuccinic aciduria	CSYL14	7901198
galactokinase deficiency	CSYL1237	7901192
GLDC-related glycine encephalopathy	CSYL1131	7901145
methylmalonic acidemia, cblA type	CSYL1158	7901160
RTEL1-related disorders	CSYL1116	7901140
TGM1-related autosomal recessive congenital ichthyosis	CSYL1145	7901151
PPT1-related neuronal ceroid lipofuscinosis	CSYL132	7901066
Joubert syndrome 2	CSYL1016	7901092
GRACILE syndrome	CSYL78	7901043
Mucolipidosis IV	CSYL115	7901057
Alpha-mannosidosis	CSYL10	7901005
Metachromatic leukodystrophy	CSYL109	7901056
Smith-Lemli-Opitz syndrome	CSYL143	7901072
Very long chain acyl-CoA dehydrogenase deficiency	CSYL1019	7901095
Familial dysautonomia	CSYL56	7901030
CLN3-related neuronal ceroid lipofuscinosis	CSYL36	7901021
Cohen syndrome	CSYL39	7901024
6-pyruvoyl-tetrahydropterin synthase deficiency	CSYL1078	7901126
argininemia	CSYL1089	7901133
Bardet-Biedl syndrome, BBS12-related	CSYL1096	7901135
cerebrotendinous xanthomatosis	CSYL1100	7901136
CLN6-related neuronal ceroid lipofuscinosis	CSYL1172	7901164
ERCC6-related disorders	CSYL1267	7901194
EVC2-related Ellis-van Creveld syndrome	CSYL1233	7901191
lipoid congenital adrenal hyperplasia	CSYL1108	7901138
maple syrup urine disease type Ia	CSYL1154	7901156
mucolipidosis III gamma	CSYL1165	7901163
PROP1-related combined pituitary hormone deficiency	CSYL133	7901067
Short chain acyl-CoA dehydrogenase deficiency	CSYL140	7901070
Autosomal recessive polycystic kidney disease	CSYL131	7901065
Megalencephalic leukoencephalopathy with subcortical cysts	CSYL106	7901055
Hexosaminidase A deficiency	CSYL1025	7901099
Spinal muscular atrophy	CSYL1001	7901089
Polyglandular autoimmune syndrome type 1	CSYL19	7901011
Usher syndrome type 1F	CSYL153	7901078
Alpha Thalassemia	CSYL12	7901120
Cystinosis	CSYL45	7901028
PEX1-related Zellweger syndrome spectrum	CSYL156	7901081
X-linked severe combined immunodeficiency	CSYL1199	7901176
Alstrom syndrome	CSYL1088	7901132
ATP7A-related disorders	CSYL1175	7901166
autosomal recessive osteopetrosis type 1	CSYL1180	7901168
delta-sarcoglycanopathy	CSYL1150	7901154
FKRP-related disorders	CSYL100	7901121
LAMA2-related muscular dystrophy	CSYL1144	7901150
Leigh syndrome, French-Canadian type	CSYL99	7901199
maple syrup urine disease type II	CSYL1153	7901155
MKS1-related disorders	CSYL1155	7901157
mucopolysaccharidosis type IIIB	CSYL1196	7901174
Niemann-Pick disease type C2	CSYL1173	7901165
X-linked Alport syndrome	CSYL1087	7901131
Northern epilepsy	CSYL38	7901023
X-linked juvenile retinoschisis	CSYL155	7901080
Limb-girdle muscular dystrophy type 2D	CSYL11	7901006
Salla disease	CSYL63	7901033
Hereditary fructose intolerance	CSYL80	7901044
Herlitz junctional epidermolysis bullosa, LAMC2-related	CSYL193	7901087
Pycnodysostosis	CSYL136	7901068
Sulfate transporter-related osteochondrodysplasia	CSYL145	7901073
Tyrosinemia type I	CSYL151	7901076
TPP1-related neuronal ceroid lipofuscinosis	CSYL148	7901074
Bloom syndrome	CSYL27	7901014
Citrullinemia type 1	CSYL1017	7901093
Congenital disorder of glycosylation type Ia	CSYL41	7901025
Glycogen storage disease type III	CSYL75	7901040
Limb-girdle muscular dystrophy type 2E	CSYL23	7901012
Medium chain acyl-CoA dehydrogenase deficiency	CSYL105	7901054
Bardet-Biedl syndrome, BBS2-related	CSYL1095	7901134
calpainopathy	CSYL1149	7901153
COL4A3-related Alport syndrome	CSYL1086	7901130
COL4A4-related Alport syndrome	CSYL1085	7901129
dysferlinopathy	CSYL1006	7901123
mucopolysaccharidosis type IIIC	CSYL1197	7901175
spondylothoracic dysostosis	CSYL1203	7901178
USH1C-related disorders	CSYL1209	7901182
xeroderma pigmentosum group C	CSYL1212	7901183
X-linked adrenoleukodystrophy	CSYL1083	7901128
Hypophosphatasia, autosomal recessive	CSYL196	7901088
Hb beta chain-related hemoglobinopathy	CSYL1026	7901100
ABCC8-related hyperinsulinism	CSYL2	7901000
CLN5-related neuronal ceroid lipofuscinosis	CSYL37	7901022
GJB2-related DFNB1 nonsyndromic hearing loss and deafness	CSYL69	7901035
Primary hyperoxaluria type 2	CSYL91	7901048
Congenital Adrenal Hyperplasia	CSYL1	7901119
Pendred syndrome	CSYL126	7901062
D-bifunctional protein deficiency	CSYL127	7901063
holocarboxylase synthetase deficiency	CSYL1139	7901147
hydrolethalus syndrome	CSYL1141	7901149
mucopolysaccharidosis type II	CSYL1140	7901148
MUT-related methylmalonic acidemia	CSYL1159	7901161
peroxisome biogenesis disorder type 4	CSYL1215	7901186
Sandhoff disease	CSYL1194	7901173
tyrosinemia type II	CSYL1205	7901179
USH2A-related disorders	CSYL1207	7901180
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	CSYL102	7901052
Niemann-Pick disease, SMPD1-associated	CSYL1022	7901098
Galactosemia	CSYL187	7901082
Ataxia with vitamin E deficiency	CSYL17	7901009
Congenital disorder of glycosylation type Ib	CSYL42	7901026
Steroid-resistant nephrotic syndrome	CSYL1020	7901096
Niemann-Pick disease type C	CSYL123	7901060
Herlitz junctional epidermolysis bullosa, LAMA3-related	CSYL191	7901085
ARSACS	CSYL15	7901007
Segawa syndrome	CSYL150	7901075
11-beta-hydroxylase-deficient congenital adrenal hyperplasia	CSYL1073	7901124
carbamoylphosphate synthetase I deficiency	CSYL1227	7901189
ERCC8-related disorders	CSYL1268	7901195
GNPTAB-related disorders	CSYL1164	7901162
HMG-CoA lyase deficiency	CSYL1076	7901125
KCNJ11-related familial hyperinsulinism	CSYL1125	7901142
PCCA-related propionic acidemia	CSYL1188	7901170
PCCB-related propionic acidemia	CSYL1189	7901171
spastic paraplegia type 15	CSYL1201	7901177

Actual Epic Build 3/11/2025

PROCEDURE ID

115447

PDM

145000601

ORDER DISPLAY NAME

Foresight TM Carrier Screen (UCS)

PROCEDURE NAME

UNIVERSAL CARRIER SCREEN

PROCEDURE MASTER NUMBER

LAB11566

SHORT PROCEDURE NAME

UNIVERSAL CARRIER SCREEN

CATEGORY CODE

15.0

CATEGORY CODE RECORD NAME

LAB CYTOGENETICS ORDERABLES

SYNONYMS

CLINICALLY ACTIVE

ORDERABLE

PERFORMABLE

FILTER GENOMICS

Generic Genomics Procedure

REFERENCE LINK URL

https://labs.northwell.edu/epic/test/115447

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

Blood, Venous

SPECIMEN SOURCE DEFAULT - FEMALE

Blood, Venous

SPECIMEN SOURCE LIST

OP SPECIMEN SOURCE LIST

IP LAB TEST COMPONENTS FOR REPORT

CARRIERSCRN
ABCC8RHYP
ANDERMANN
AMANNOSID
MUSCDYST2D
ARSACS
ASPARTYLGLYO
ATAXIAVITE
ATAXIATELAN
POLYGLANDTY1
MUSCDYST2E
BIOTINIDASE
BLOOMSYN
CANAVAN
CPTDEF
CARTHYPO
CYSTICFIB
CLNRNCL
EPILEPSY
COHENSYN
CONDOGLYCLA
CONDOGLYCLB
CONGFINNISH
CYSTINOSIS
FAMDYSA
FAMMED
FANCONIANTPC
SALLADIS
GAUCHER
GJBREDNON
NTRAGLUCOADE
GLYSTODITYLA
GLYSTODITYLB
POMDIS
NTRAGSDT3
IBM2
GRACILE
HEREDFRUC
HOMOCYSUR
PRHYTY1
PRHYTY2
ISOVALERIC
KRABBE
LDD
LONGCHAIN3
MAPLEUR
ACYLCOA
MEGLEUKENCE
METALEUKO
MUCOLIPID
NTRAMUCTYPEI
MUSEYEDIS
NIEMPICKC
NIJMEGEN
PENDREDSYN
DBIFUNCPROT
PHHYDEF
AUTORPKD
PPT1NECELI
COPIHODEFPR1
PYCNODY
RHCHPUTY
SHCHACYLCOA
SJOG
SLOS
SULTRAOSTEO
TPP1NEURCER
SEGSYND
TYROTY1
USHERSYND
WILSONDIS
XLIJUVRET
NTRAZELLWEGE
GALACTOSEMIA
BBS1
BBS10
JUNEPIBULAM3
JUEPBULLAMB3
JUEPIBULAMC2
HYPOPHOSREC
SMA
NEMALMYO
JOUBERTSY2
CITRULLINEMI
PRCADEF
VERYLONG
SRNS
COSTEFFOP
NIEMPICKSMPD
HEXOADEF
HEMOGBETHB
WWSYND
CONGADNHY
ATHALASS
ARGINACI
LEIGHSYN
FKRPRTDO
MUCOPOLYSAC
DYSKERATCON
11BETAHYDECO
HMGCOLYDEF
6PYRUTETASYD
ADDEF
XLIADRENO
COLRAS
XLIALSYN
ALSTROM
ARGININEMIA
BBS2
BBS12
CERBROTEND
LYSOSOMALAC
LIPCONADRH
DYSTRODUCH
RTEL1RELDIS
FABRY
HYPERINSUL
FANCONIANC
AMTRGE
GLYENCGLDCRE
GLBREDIS
HSD
HYDROSYN
MUSCDYST
TGM1
GAMSARC
CALPAIN
DELTASARCO
MKS1
MEACCBLBTY
METHYLACID
MEACCBLATY
METHYLMALAC
GNPTABREDIS
MUCOLIPGAM
NIEMPICKC2
ATP7ARD
OTD
AUTOROT1
PRHYTY3
PCCAPROACI
PCCBPROACI
PYCARDEF
SANDHOFF
XLISECCOMIMM
SPASPARA15
SPONDDYS
TYROTY2
USH2ADIS
MYO7A
USH1CDIS
XEPIGGRPC
XEPIGGRPA
PEBIDISTY6
PEBIDISTY4
PEBIODISTY3
PEBIODITY5
CPSDEF
EVC
EVC2
GALACTODEF
XLIADHYPCON
ERCC6
ERCC8
CONDOGLYCTYP
XLIMYTUBMYO

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

STANDARD LAB COMPONENTS

STANDARD LAB COMPONENTS RECORD NAME

COMPONENT DATA REQUIREMENT

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 - crosswalked through Cerner)

Component ID	Component Name	Base Name	Common Name	External Name	Cerner Result PDM
3047805688.0	WALKER-WARBURG SYNDROME RESULT	WWSYND	WWSYND, RESULT		7901118
3047805545.0	KRABBE DISEASE RESULT	KRABBE	KRABBE DISEASE RESULT		7901050
3047805392.0	BARDET-BIEDL SYNDROME, BBS10-RELATED RESULT	BBS10	BARDET BIEDL SYNDROME, BBS10 RELATED RESULT		7901084
3047805386.0	ASPARTYLGLYCOSAMINURIA RESULT	ASPARTYLGLYO	ASPARTYLGLYCOSAMINURIA RESULT		7901008
3047801646.0	CARNITINE PALMITOYLTRANSFERASE II DEFICI	CPTDEF	CARNITINE PALMITOYLTRANSFERASE II DEFICI		7901017
3047805482.0	FAMILIAL MEDITERRANEAN FEVER RESULT	FAMMED	FAMILIAL MEDITERRANEAN FEVER		7901031
3047805549.0	LIPOAMIDE DEHYDROGENASE DEFICIENCY RESULT	LDD	LIPOAMIDE DEHYDROGENASE DEFICIENCY RESULT		7901051
3047805583.0	NIJMEGEN BREAKAGE SYNDROME RESULT	NIJMEGEN	NIJMEGEN, RESULT		7901061
3047805648.0	SJOGREN-LARSSON SYNDROME RESULT	SJOG	SJOG, RESULT		7901071
3047805417.0	CARTILAGE-HAIR HYPOPLASIA RESULT	CARTHYPO	CARTILAGE HAIR HYPOPLASIA RESULT		7901018
3047805403.0	BIOTINIDASE DEFICIENCY RESULT	BIOTINIDASE	BIOTINIDASE DEFICIENCY RESULT		7901013
3047805525.0	INCLUSION BODY MYOPATHY 2 RESULT	IBM2	INCLUSION BODY MYOPATHY 2 RESULT		7901042
3047801972.0	CONGENITAL DISORDER OF GLYCOSYLATION TYP	CONDOGLYCTYP	CONGENITAL DISORDER OF GLYCOSYLATION TYP		7901196
3047802416.0	FANCONI ANEMIA COMPLEMENTATION GROUP A	FANCONIANC	FANCONI ANEMIA COMPLEMENTATION GROUP A		7901143
3047803364.0	LYSOSOMAL ACID LIPASE DEFICIENCY	LYSOSOMALAC	LYSOSOMAL ACID LIPASE DEFICIENCY		7901137
3047803501.0	METHYLMALONIC ACIDEMIA, CBLB TYPE	MEACCBLBTY	MEACCBLBTY		7901158
3047805596.0	ORNITHINE TRANSCARBAMYLASE DEFICIENCY RESULT	OTD	OTD, RESULT		7901167
3047804255.0	PRIMARY HYPEROXALURIA TYPE 3	PRHYTY3	PRIMARY HYPEROXALURIA TYPE 3		7901169
3047804392.0	PYRUVATE CARBOXYLASE DEFICIENCY	PYCARDEF	PYRUVATE CARBOXYLASE DEFICIENCY		7901172
3047802000.0	COSTEFF OPTIC ATROPHY SYNDROME	COSTEFFOP	COSTEFF OPTIC ATROPHY SYNDROME		7901097
3047802631.0	GLYCOGEN STORAGE DISEASE TYPE IA	GLYSTODITYLA	GLYCOGEN STORAGE DISEASE TYPE IA		7901037
3047805396.0	BARDET-BIEDL SYNDROME, BBS1-RELATED RESULT	BBS1	BARDET BIEDL SYNDROME, BBS1 RELATED RESULT		7901083
3047805390.0	ATAXIA-TELANGIECTASIA RESULT	ATAXIATELAN	ATAXIA TELANGIECTASIA RESULT		7901010
3047805440.0	CONGENITAL FINNISH NEPHROSIS RESULT	CONGFINNISH	CONGENITAL FINNISH NEPHROSIS RESULT		7901027
3047803395.0	MAPLE SYRUP URINE DISEASE TYPE 1B	MAPLEUR	MAPLE SYRUP URINE DISEASE TYPE 1B		7901053
3047805693.0	WILSON DISEASE RESULT	WILSONDIS	WILSONDIS, RESULT		7901079
3047803707.0	NEB-RELATED NEMALINE MYOPATHY	NEMALMYO	NEB RELATED NEMALINE MYOPATHY		7901091
3047805382.0	ANDERMANN SYNDROME RESULT	ANDERMANN	ANDERMANN SYNDROME RESULT		7901002
3047801644.0	CARNITINE PALMITOYLTRANSFERASE IA DEFICI	CPTDEF	CARNITINE PALMITOYLTRANSFERASE IA DEFICI		7901016
3047801652.0	CARRIER SCREEN	CARRIERSCRN	CARRIER SCREEN		145000601
3047805504.0	GAUCHER DISEASE RESULT	GAUCHER	GAUCHER DISEASE RESULT		7901034
3047800873.0	ADENOSINE DEAMINASE DEFICIENCY	ADDEF	ADDEF		7901127
3047802249.0	DYSTROPHINOPATHY (INCLUDING DUCHENNE/BEC	DYSTRODUCH	DYSTROPHINOPATHY		7901139
3047802377.0	EVC-RELATED ELLIS-VAN CREVELD SYNDROME	EVC	EVC RELATED ELLIS VAN CREVELD SYNDROME		7901190
3047805473.0	FABRY DISEASE RESULT	FABRY	FABRY DISEASE RESULT		7901141
3047802546.0	GAMMA-SARCOGLYCANOPATHY	GAMSARC	GAMMA SARCOGLYCANOPATHY		7901152
3047802592.0	GLB1-RELATED DISORDERS	GLBREDIS	GLB1 RELATED DISORDERS		7901146
3047803504.0	METHYLMALONIC ACIDURIA AND HOMOCYSTINURI	METHYLACID	METHYLMALONIC ACIDURIA AND HOMOCYSTINURI		7901159
3047803633.0	MUCOPOLYSACCHARIDOSIS TYPE IIIA	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS TYPE IIIA		7901122
3047803687.0	MYO7A-RELATED DISORDERS	MYO7A	MYO7A RELATED DISORDERS		7901181
3047804029.0	PEROXISOME BIOGENESIS DISORDER TYPE 3	PEBIODISTY3	PEBIODISTY3	Peroxisome Biogenesis Disorder Type 3	7901187
3047804031.0	PEROXISOME BIOGENESIS DISORDER TYPE 5	PEBIODITY5	PEBIODITY5	Peroxisome Biogenesis Disorder Type 5	7901188
3047804032.0	PEROXISOME BIOGENESIS DISORDER TYPE 6	PEBIDISTY6	PEBIDISTY6	Peroxisome Biogenesis Disorder Type 6	7901185
3047805295.0	XERODERMA PIGMENTOSUM GROUP A	XEPIGGRPA	XERODERMA PIGMENTOSUM GROUP A		7901184
3047805304.0	X-LINKED CONGENITAL ADRENAL HYPOPLASIA	XLIADHYPCON	X LINKED CONGENITAL ADRENAL HYPOPLASIA		7901193
3047805306.0	X-LINKED MYOTUBULAR MYOPATHY	XLIMYTUBMYO	X LINKED MYOTUBULAR MYOPATHY		7901197
3047805454.0	CYSTIC FIBROSIS RESULT	CYSTICFIB	CYSTIC FIBROSIS RESULT		7901019
3047804076.0	PHENYLALANINE HYDROXYLASE DEFICIENCY	PHHYDEF	PHENYLALANINE HYDROXYLASE DEFICIENCY		7901064
3047805686.0	USHER SYNDROME TYPE 3 RESULT	USHERSYND	USHERSYND, RESULT		7901077
3047803655.0	MUSCLE-EYE-BRAIN DISEASE	MUSEYEDIS	MUSCLE EYE BRAIN DISEASE		7901059
3047804567.0	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYP	RHCHPUTY	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYP		7901069
3047802417.0	FANCONI ANEMIA TYPE C	FANCONIANTPC	FANCONI ANEMIA TYPE C		7901032
3047802620.0	GLUTARIC ACIDEMIA TYPE 1	NTRAGLUCOADE	GLUTARIC ACIDEMIA TYPE 1		7901036
3047802896.0	HOMOCYSTINURIA / CYSTATHIONINE BETA-SYNT	HOMOCYSUR	HOMOCYSTINURIA CYSTATHIONINE BETA SYNT		7901046
3047804253.0	PRIMARY HYPEROXALURIA TYPE 1	PRHYTY1	PRIMARY HYPEROXALURIA TYPE 1		7901047
3047802960.0	HURLER SYNDROME	NTRAMUCTYPEI	HURLER SYNDROME		7901058
3047802632.0	GLYCOGEN STORAGE DISEASE TYPE IB	GLYSTODITYLB	GLYCOGEN STORAGE DISEASE TYPE IB		7901038
3047805413.0	CANAVAN DISEASE RESULT	CANAVAN	CANAVAN DISEASE RESULT		7901015
3047805540.0	ISOVALERIC ACIDEMIA RESULT	ISOVALERIC	ISOVALERIC ACIDEMIA RESULT		7901049
3047804211.0	POMPE DISEASE	POMDIS	POMPE DISEASE		7901039
3047804249.0	PRIMARY CARNITINE DEFICIENCY	PRCADEF	PRIMARY CARNITINE DEFICIENCY		7901094
3047802849.0	HJE BULLOSA, LAMB3-RELATED	JUEPBULLAMB3	HJE BULLOSA, LAMB3 RELATED		7901086
3047801034.0	AMT-RELATED GLYCINE ENCEPHALOPATHY	AMTRGE	AMT RELATED GLYCINE ENCEPHALOPATHY		7901144
3047801175.0	ARGININOSUCCINIC ACIDURIA	ARGINACI	ARGINACI	Argininosuccinic Aciduria	7901198
3047805500.0	GALACTOKINASE DEFICIENCY RESULT	GALACTODEF	GALACTOKINASE DEFICIENCY RESULT		7901192
3047802593.0	GLDC-RELATED GLYCINE ENCEPHALOPATHY	GLYENCGLDCRE	GLDC RELATED GLYCINE ENCEPHALOPATHY		7901145
3047803500.0	METHYLMALONIC ACIDEMIA, CBLA TYPE	MEACCBLATY	MEACCBLATY		7901160
3047804605.0	RTEL1-RELATED DISORDERS	RTEL1RELDIS	RTEL1 RELATED DISORDERS		7901140
3047804947.0	TGM1-RELATED AUTOSOMAL RECESSIVE CONGENI	TGM1	TGM1 RELATED AUTOSOMAL RECESSIVE CONGENI		7901151
3047804230.0	PPT1-RELATED NEURONAL CEROID LIPOFUSCINO	PPT1NECELI	PPT1 RELATED NEURONAL CEROID LIPOFUSCINO		7901066
3047805542.0	JOUBERT SYNDROME 2 RESULT	JOUBERTSY2	JOUBERT SYNDROME 2 RESULT		7901092
3047805508.0	GRACILE SYNDROME RESULT	GRACILE	GRACILE SYNDROME RESULT		7901043
3047803629.0	MUCOLIPIDOSIS IV	MUCOLIPID	MUCOLIPIDOSIS IV		7901057
3047805370.0	ALPHA-MANNOSIDOSIS RESULT	AMANNOSID	ALPHA MANNOSIDOSIS RESULT		7901005
3047803444.0	METACHROMATIC LEUKODYSTROPHY	METALEUKO	METACHROMATIC LEUKODYSTROPHY		7901056
3047805650.0	SMITH-LEMLI-OPITZ SYNDROME RESULT	SLOS	SLOS, RESULT		7901072
3047805226.0	VERY LONG CHAIN ACYL-COA DEHYDROGENASE D	VERYLONG	VERY LONG CHAIN ACYL COA DEHYDROGENASE D		7901095
3047805477.0	FAMILIAL DYSAUTONOMIA RESULT	FAMDYSA	FAMILIAL DYSAUTONOMIA RESULT		7901030
3047801847.0	CLN3-RELATED NEURONAL CEROID LIPOFUSCINO	CLNRNCL	CLN3 RELATED NEURONAL CEROID LIPOFUSCINO		7901021
3047805431.0	COHEN SYNDROME RESULT	COHENSYN	COHEN SYNDROME RESULT		7901024
3047800805.0	6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEF	6PYRUTETASYD	6 PYRUVOYL TETRAHYDROPTERIN SYNTHASE PTPS DEFICIENCY		7901126
3047801172.0	ARGININEMIA	ARGININEMIA	ARGININEMIA		7901133
3047805394.0	BARDET-BIEDL SYNDROME, BBS12-RELATED RESULT	BBS12	BARDET BIEDL SYNDROME, BBS12 RELATED RESULT		7901135
3047805419.0	CEREBROTENDINOUS XANTHOMATOSIS RESULT	CERBROTEND	CEREBROTENDINOUS XANTHOMATOSIS RESULT		7901136
3047801849.0	CLN6-RELATED NEURONAL CEROID LIPOFUSCINO	CLNRNCL	CLN6 RELATED NEURONAL CEROID LIPOFUSCINO		7901164
3047802335.0	ERCC6-RELATED DISORDERS	ERCC6	ERCC6 RELATED DISORDERS		7901194
3047802376.0	EVC2-RELATED ELLIS-VAN CREVELD SYNDROME	EVC2	EVC2 RELATED ELLIS VAN CREVELD SYNDROME		7901191
3047803302.0	LIPOID CONGENITAL ADRENAL HYPERPLASIA	LIPCONADRH	LIPOID CONGENITAL ADRENAL HYPERPLASIA		7901138
3047803396.0	MAPLE SYRUP URINE DISEASE TYPE IA	MAPLEUR	MAPLE SYRUP URINE DISEASE TYPE IA		7901156
3047805575.0	MUCOLIPIDOSIS III GAMMA RESULT	MUCOLIPGAM	MUCOLIPGAM, RESULT		7901163
3047804279.0	PROP1-RELATED COMBINED PITUITARY HORMONE	COPIHODEFPR1	PROP1 RELATED COMBINED PITUITARY HORMONE		7901067
3047804727.0	SHORT CHAIN ACYL-COA DEHYDROGENASE DEFIC	SHCHACYLCOA	SHORT CHAIN ACYL COA DEHYDROGENASE DEFIC		7901070
3047801223.0	AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DI	AUTORPKD	AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DI		7901065
3047803422.0	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH	MEGLEUKENCE	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH		7901055
3047802801.0	HEXOSAMINIDASE A DEFICIENCY	HEXOADEF	HEXOSAMINIDASE A DEFICIENCY		7901099
3047805656.0	SPINAL MUSCULAR ATROPHY	SMA	SMA, ATROPHY		7901089
3047804209.0	POLYGLANDULAR AUTOIMMUNE SYNDROME TYPE 1	POLYGLANDTY1	POLYGLANDULAR AUTOIMMUNE SYNDROME TYPE 1		7901011
3047805684.0	USHER SYNDROME TYPE 1F RESULT	USHERSYND	USHERSYND, RESULT		7901078
3047800948.0	ALPHA THALASSEMIA	ATHALASS	ALPHA THALASSEMIA		7901120
3047805456.0	CYSTINOSIS RESULT	CYSTINOSIS	CYSTINOSIS RESULT		7901028
3047804037.0	PEX1-RELATED ZELLWEGER SYNDROME SPECTRUM	NTRAZELLWEGE	PEX1 RELATED ZELLWEGER SYNDROME SPECTRUM		7901081
3047805307.0	X-LINKED SEVERE COMBINED IMMUNODEFICIENC	XLISECCOMIMM	X LINKED SEVERE COMBINED IMMUNODEFICIENC		7901176
3047805374.0	ALSTROM SYNDROME RESULT	ALSTROM	ALSTROM SYNDROME RESULT		7901132
3047801214.0	ATP7A-RELATED DISORDERS	ATP7ARD	ATP7A RELATED DISORDERS		7901166
3047801222.0	AUTOSOMAL RECESSIVE OSTEOPETROSIS TYPE 1	AUTOROT1	AUTOSOMAL RECESSIVE OSTEOPETROSIS TYPE 1		7901168
3047802118.0	DELTA-SARCOGLYCANOPATHY	DELTASARCO	DELTA SARCOGLYCANOPATHY		7901154
3047802475.0	FKRP-RELATED DISORDERS	FKRPRTDO	FKRP RELATED DISORDERS		7901121
3047803210.0	LAMA2-RELATED MUSCULAR DYSTROPHY	MUSCDYST	LAMA2 RELATED MUSCULAR DYSTROPHY		7901150
3047805547.0	LEIGH SYNDROME, FRENCH-CANADIAN TYPE RESULT	LEIGHSYN	LEIGH SYNDROME, FRENCH CANADIAN TYPE RESULT		7901199
3047803397.0	MAPLE SYRUP URINE DISEASE TYPE II	MAPLEUR	MAPLE SYRUP URINE DISEASE TYPE II		7901155
3047803539.0	MKS1-RELATED DISORDERS	MKS1	MKS1 RELATED DISORDERS		7901157
3047803634.0	MUCOPOLYSACCHARIDOSIS TYPE IIIB	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS TYPE IIIB		7901174
3047803743.0	NIEMANN-PICK DISEASE TYPE C2	NIEMPICKC2	NIEMANN PICK DISEASE, TYPE C2	Niemann-Pick Disease, Type C2	7901165
3047805303.0	X-LINKED ALPORT SYNDROME	XLIALSYN	X LINKED ALPORT SYNDROME		7901131
3047803800.0	NORTHERN EPILEPSY	EPILEPSY	NORTHERN EPILEPSY		7901023
3047805305.0	X-LINKED JUVENILE RETINOSCHISIS	XLIJUVRET	X LINKED JUVENILE RETINOSCHISIS		7901080
3047803284.0	LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2D	MUSCDYST2D	LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2D		7901006
3047805642.0	SALLA DISEASE RESULT	SALLADIS	SALLADIS, RESULT		7901033
3047805512.0	HEREDITARY FRUCTOSE INTOLERANCE RESULT	HEREDFRUC	HEREDITARY FRUCTOSE INTOLERANCE RESULT		7901044
3047802850.0	HJE BULLOSA, LAMC2-RELATED	JUEPIBULAMC2	HJE BULLOSA, LAMC2 RELATED		7901087
3047805622.0	PYCNODYSOSTOSIS RESULT	PYCNODY	PYCNODY, RESULT		7901068
3047804872.0	SULFATE TRANSPORTER-RELATED OSTEOCHONDRO	SULTRAOSTEO	SULFATE TRANSPORTER RELATED OSTEOCHONDRO		7901073
3047805145.0	TYROSINEMIA TYPE I	TYROTY1	TYROSINEMIA TYPE I		7901076
3047805044.0	TPP1-RELATED NEURONAL CEROID LIPOFUSCINO	TPP1NEURCER	TPP1 RELATED NEURONAL CEROID LIPOFUSCINO		7901074
3047805406.0	BLOOM SYNDROME RESULT	BLOOMSYN	BLOOM SYNDROME RESULT		7901014
3047801811.0	CITRULLINEMIA TYPE 1	CITRULLINEMI	CITRULLINEMIA TYPE 1		7901093
3047801970.0	CONGENITAL DISORDER OF GLYCOSYLATION LA	CONDOGLYCLA	CONGENITAL DISORDER OF GLYCOSYLATION LA		7901025
3047802633.0	GLYCOGEN STORAGE DISEASE TYPE III	NTRAGSDT3	GLYCOGEN STORAGE DISEASE TYPE III		7901040
3047803285.0	LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E	MUSCDYST2E	LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2E		7901012
3047803419.0	MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFI	ACYLCOA	MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFI		7901054
3047805398.0	BARDET-BIEDL SYNDROME, BBS2-RELATED RESULT	BBS2	BARDET BIEDL SYNDROME, BBS2 RELATED RESULT		7901134
3047801603.0	CALPAINOPATHY	CALPAIN	CALPAINOPATHY		7901153
3047801914.0	COL4A3-RELATED ALPORT SYNDROME	COLRAS	COL4A3 RELATED ALPORT SYNDROME		7901130
3047801915.0	COL4A4-RELATED ALPORT SYNDROME	COLRAS	COL4A4 RELATED ALPORT SYNDROME		7901129
3047802246.0	DYSFERLINOPATHY	DYSKERATCON	DYSFERLINOPATHY		7901123
3047803635.0	MUCOPOLYSACCHARIDOSIS TYPE IIIC	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS TYPE IIIC		7901175
3047805658.0	SPONDYLOTHORACIC DYSOSTOSIS RESULT	SPONDDYS	SPONDDYS, RESULT		7901178
3047805184.0	USH1C-RELATED DISORDERS	USH1CDIS	USH1C RELATED DISORDERS		7901182
3047805296.0	XERODERMA PIGMENTOSUM GROUP C	XEPIGGRPC	XERODERMA PIGMENTOSUM GROUP C		7901183
3047805302.0	X-LINKED ADRENOLEUKODYSTROPHY	XLIADRENO	X LINKED ADRENOLEUKODYSTROPHY		7901128
3047802985.0	HYPOPHOSPHATASIA, AUTOSOMAL RECESSIVE	HYPOPHOSREC	HYPOPHOSPHATASIA, AUTOSOMAL RECESSIVE		7901088
3047802704.0	HB BETA CHAIN-RELATED HEMOGLOBINOPATHY	HEMOGBETHB	HB BETA CHAIN RELATED HEMOGLOBINOPATHY		7901100
3047800824.0	ABCC8-RELATED HYPERINSULINISM	ABCC8RHYP	ABCC8 RELATED HYPERINSULINISM		7901000
3047801848.0	CLN5-RELATED NEURONAL CEROID LIPOFUSCINO	CLNRNCL	CLN5 RELATED NEURONAL CEROID LIPOFUSCINO		7901022
3047802591.0	GJB2-RELATED DFNB1 NONSYNDROMIC HEARING	GJBREDNON	GJB2 RELATED DFNB1 NONSYNDROMIC HEARING		7901035
3047804254.0	PRIMARY HYPEROXALURIA TYPE 2	PRHYTY2	PRIMARY HYPEROXALURIA TYPE 2		7901048
3047801964.0	CONGENITAL ADRENAL HYPERPLASIA	CONGADNHY	CONGENITAL ADRENAL HYPERPLASIA		7901119
3047805611.0	PENDRED SYNDROME RESULT	PENDREDSYN	PENDREDSYN, RESULT		7901062
3047805458.0	D-BIFUNCTIONAL PROTEIN DEFICIENCY RESULT	DBIFUNCPROT	D BIFUNCTIONAL PROTEIN DEFICIENCY RESULT		7901063
3047805517.0	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY RESULT	HSD	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY RESULT		7901147
3047805521.0	HYDROLETHALUS SYNDROME RESULT	HYDROSYN	HYDROLETHALUS SYNDROME RESULT		7901149
3047803632.0	MUCOPOLYSACCHARIDOSIS TYPE II	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS TYPE II		7901148
3047803663.0	MUT-RELATED METHYLMALONIC ACIDEMIA	METHYLMALAC	MUT RELATED METHYLMALONIC ACIDEMIA		7901161
3047804030.0	PEROXISOME BIOGENESIS DISORDER TYPE 4	PEBIDISTY4	PEBIDISTY4	Peroxisome Biogenesis Disorder Type 4	7901186
3047805644.0	SANDHOFF DISEASE RESULT	SANDHOFF	SANDHOFF, RESULT		7901173
3047805146.0	TYROSINEMIA TYPE II	TYROTY2	TYROSINEMIA TYPE II		7901179
3047805185.0	USH2A-RELATED DISORDERS	USH2ADIS	USH2A RELATED DISORDERS		7901180
3047805551.0	LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENA RESULT	LONGCHAIN3	LONG CHAIN 3 HYDROXYACYL COA DEHYDROGENA RESULT		7901052
3047803744.0	NIEMANN-PICK DISEASE, SMPD1-ASSOCIATED	NIEMPICKSMPD	NIEMANN PICK DISEASE, SMPD1	Niemann-Pick Disease, SMPD1-Associated	7901098
3047805502.0	GALACTOSEMIA RESULT	GALACTOSEMIA	GALACTOSEMIA RESULT		7901082
3047805388.0	ATAXIA WITH VITAMIN E DEFICIENCY RESULT	ATAXIAVITE	ATAXIA WITH VITAMIN E DEFIENCY RESULT		7901009
3047801971.0	CONGENITAL DISORDER OF GLYCOSYLATION LB	CONDOGLYCLB	CONGENITAL DISORDER OF GLYCOSYLATION LB		7901026
3047805660.0	STEROID-RESISTANT NEPHROTIC SYNDROME RESULT	SRNS	SRNS, RESULT		7901096
3047803742.0	NIEMANN-PICK DISEASE TYPE C	NIEMPICKC	NIEMANN PICK DISEASE, TYPE C	Niemann-Pick Disease, Type C	7901060
3047802848.0	HJE BULLOSA, LAMA3-RELATED	JUNEPIBULAM3	HJE BULLOSA, LAMA3 RELATED		7901085
3047801179.0	ARSACS	ARSACS	ARSACS		7901007
3047804681.0	SEGAWA SYNDROME	SEGSYND	SEGAWA SYNDROME		7901075
3047800757.0	11-BETA-HYDROXYLASE-DEFICIENT CONGENITAL	11BETAHYDECO	11 BETA HYDROXYLASE DEFICIENT CONGENITAL		7901124
3047801624.0	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIEN	CPSDEF	CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIEN		7901189
3047802336.0	ERCC8-RELATED DISORDERS	ERCC8	ERCC8 RELATED DISORDERS		7901195
3047802644.0	GNPTAB-RELATED DISORDERS	GNPTABREDIS	GNPTAB RELATED DISORDERS		7901162
3047802887.0	HMG-COA LYASE DEFICIENCY	HMGCOLYDEF	HMG COA LYASE DEFICIENCY		7901125
3047803182.0	KCNJ11-RELATED FAMILIAL HYPERINSULINISM	HYPERINSUL	KCNJ11 RELATED FAMILIAL HYPERINSULINISM		7901142
3047803986.0	PCCA-RELATED PROPIONIC ACIDEMIA	PCCAPROACI	PCCA RELATED PROPIONIC ACIDEMIA		7901170
3047803987.0	PCCB-RELATED PROPIONIC ACIDEMIA	PCCBPROACI	PCCB RELATED PROPIONIC ACIDEMIA		7901171
3047804790.0	SPASTIC PARAPLEGIA TYPE 15	SPASPARA15	SPASTIC PARAPLEGIA TYPE 15		7901177

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Epic Build / Desired Build Test Compendium
Welcome to the new Northwell Health Labs Epic Build / Desired Build Test Directory! Please email ClinicalLabInformatics@northwell.edu with any typos, corrections or issues.

Actual Epic Build 3/11/2025