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Foresight TM Carrier Screen (UCS)

Test Catalog Information

Test Catalog Synonyms
EPIC Synonyms
Cerner Primary Mnemonic	Foresight TM Carrier Screen (UCS)
EPIC Display Name	Foresight TM Carrier Screen (UCS)
Allscripts (AEHR) Order Name	Universal Carrier Screen
Sunrise Clinical Manager (SCM) Order Name	Universal Carrier Screen
EPIC Inpatient Orderable	Yes
EPIC Outpatient Orderable	Yes
Cerner Results	Walker-Warburg syndrome Krabbe disease Bardet-Biedl syndrome, BBS10-related Aspartylglycosaminuria Carnitine palmitoyltransferase II defici Familial Mediterranean fever Lipoamide dehydrogenase deficiency Nijmegen breakage syndrome Sjogren-Larsson syndrome Cartilage-hair hypoplasia Biotinidase deficiency Inclusion body myopathy 2 congenital disorder of glycosylation typ Fanconi anemia complementation group A lysosomal acid lipase deficiency methylmalonic acidemia, cblB type ornithine transcarbamylase deficiency primary hyperoxaluria type 3 pyruvate carboxylase deficiency Costeff optic atrophy syndrome Glycogen storage disease type Ia Bardet-Biedl syndrome, BBS1-related Ataxia-telangiectasia Congenital finnish nephrosis Maple syrup urine disease type 1B Wilson disease NEB-related nemaline myopathy Andermann syndrome Carnitine palmitoyltransferase IA defici UCS Gaucher disease adenosine deaminase deficiency dystrophinopathy (including Duchenne/Bec EVC-related Ellis-van Creveld syndrome Fabry disease gamma-sarcoglycanopathy GLB1-related disorders methylmalonic aciduria and homocystinuri mucopolysaccharidosis type IIIA MYO7A-related disorders peroxisome biogenesis disorder type 3 peroxisome biogenesis disorder type 5 peroxisome biogenesis disorder type 6 xeroderma pigmentosum group A X-linked congenital adrenal hypoplasia X-linked myotubular myopathy Cystic fibrosis Phenylalanine hydroxylase deficiency Usher syndrome type 3 Muscle-eye-brain disease Rhizomelic chondrodysplasia punctata typ Fanconi anemia type C Glutaric acidemia type 1 Homocystinuria / Cystathionine beta-synt Primary hyperoxaluria type 1 Hurler syndrome Glycogen storage disease type Ib Canavan disease Isovaleric acidemia Pompe disease Primary carnitine deficiency HJE bullosa, LAMB3-related AMT-related glycine encephalopathy argininosuccinic aciduria galactokinase deficiency GLDC-related glycine encephalopathy methylmalonic acidemia, cblA type RTEL1-related disorders TGM1-related autosomal recessive congeni PPT1-related neuronal ceroid lipofuscino Joubert syndrome 2 GRACILE syndrome Mucolipidosis IV Alpha-mannosidosis Metachromatic leukodystrophy Smith-Lemli-Opitz syndrome very long chain acyl-CoA dehydrogenase d Familial dysautonomia CLN3-related neuronal ceroid lipofuscino Cohen syndrome 6-pyruvoyl-tetrahydropterin synthase def argininemia Bardet-Biedl syndrome, BBS12-related cerebrotendinous xanthomatosis CLN6-related neuronal ceroid lipofuscino ERCC6-related disorders EVC2-related Ellis-van Creveld syndrome lipoid congenital adrenal hyperplasia maple syrup urine disease type Ia mucolipidosis III gamma PROP1-related combined pituitary hormone Short chain acyl-CoA dehydrogenase defic Autosomal recessive polycystic kidney di Megalencephalic leukoencephalopathy with Hexosaminidase A deficiency Spinal muscular atrophy Polyglandular autoimmune syndrome type 1 Usher syndrome type 1F Alpha Thalassemia Cystinosis PEX1-related Zellweger syndrome spectrum X-linked severe combined immunodeficienc Alstrom syndrome ATP7A-related disorders autosomal recessive osteopetrosis type 1 delta-sarcoglycanopathy FKRP-related disorders LAMA2-related muscular dystrophy Leigh syndrome, French-Canadian type maple syrup urine disease type II MKS1-related disorders mucopolysaccharidosis type IIIB Niemann-Pick disease type C2 X-linked Alport syndrome Northern epilepsy X-linked juvenile retinoschisis Limb-girdle muscular dystrophy type 2D Salla disease Hereditary fructose intolerance HJE bullosa, LAMC2-related Pycnodysostosis Sulfate transporter-related osteochondro Tyrosinemia type I TPP1-related neuronal ceroid lipofuscino Bloom syndrome Citrullinemia type 1 Congenital disorder of glycosylation la Glycogen storage disease type III Limb-girdle muscular dystrophy type 2E Medium chain acyl-CoA dehydrogenase defi Bardet-Biedl syndrome, BBS2-related calpainopathy COL4A3-related Alport syndrome COL4A4-related Alport syndrome dysferlinopathy mucopolysaccharidosis type IIIC spondylothoracic dysostosis USH1C-related disorders xeroderma pigmentosum group C X-linked adrenoleukodystrophy Hypophosphatasia, autosomal recessive Hb beta chain-related hemoglobinopathy ABCC8-related hyperinsulinism CLN5-related neuronal ceroid lipofuscino GJB2-related DFNB1 nonsyndromic hearing Primary hyperoxaluria type 2 Congenital Adrenal Hyperplasia Pendred syndrome D-bifunctional protein deficiency holocarboxylase synthetase deficiency hydrolethalus syndrome mucopolysaccharidosis type II MUT-related methylmalonic acidemia peroxisome biogenesis disorder type 4 Sandhoff disease tyrosinemia type II USH2A-related disorders Long chain 3-hydroxyacyl-CoA dehydrogena Niemann-Pick disease, SMPD1-associated Galactosemia Ataxia with vitamin E deficiency congenital disorder of glycosylation lb Steroid-resistant nephrotic syndrome Niemann-Pick disease type C HJE bullosa, LAMA3-related ARSACS Segawa syndrome 11-beta-hydroxylase-deficient congenital carbamoylphosphate synthetase I deficien ERCC8-related disorders GNPTAB-related disorders HMG-CoA lyase deficiency KCNJ11-related familial hyperinsulinism PCCA-related propionic acidemia PCCB-related propionic acidemia spastic paraplegia type 15
Clinical Info	Screen measures 176 conditions associated with serious and prevalent inherited conditions
Specimen Type	Blood
Container	Lavender Top Tube
Collection Instructions	Container/Tube: Lavender top tube(s) Specimen: Whole Blood 3 ml's Transport Temperature: Room Temperature Note: Requires Ethnicity (required for interpretation) Choices are: Northern European (British, German) Southern European (Italian, Greek) French Canadian Ashkenazi Jewish Finnish Other/Mixed Caucasian East Asian (Chinese, Japanese) South Asian (Indian, Pakistani) Southeast Asian (Filipino, Vietnamese) African or African American Hispanic Middle Eastern Native American Pacific Islander Unknown
Transport Instructions	Room Temperature
Specimen Stability
Methodology	Full-exon sequencing with panel-wide deletion calling Turnaround time: 2 -3 weeks
Days Performed
Performing Laboratory	Myriad Women's Health
CPT	81479, 81405, 81258, 81257, 81404, 81408, 81406, 81250, 81290, 81412 81161, 81400
PDM	145000601

Desired Epic Build Foresight TM Carrier Screen (UCS)

Cerner Primary Mnemonic:

Foresight TM Carrier Screen (UCS)

PDM

145000601

Informatics - Workgroup

Molecular-send outs

Synonyms *

Display Name *

Foresight TM Carrier Screen (UCS)

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)

Screen measures 176 conditions associated with serious and prevalent inherited conditions

IP Orderable

Yes

OP Orderable

Yes

AOEs *

AP AOEs

Special History

Build Comments

Filter *

genetics

Procedure Category Change

Cerner Results

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

Current Actual EPIC Build as of 10/28/2024

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

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

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)

Component ID	Component Name	Base Name	Common Name	External Name	Cerner Result PDM
3047805688	WALKER-WARBURG SYNDROME RESULT	WWSYND	WWSYND, RESULT		7901118
3047805545	KRABBE DISEASE RESULT	KRABBE	KRABBE DISEASE RESULT		7901050
3047805392	BARDET-BIEDL SYNDROME, BBS10-RELATED RESULT	BBS10	BARDET BIEDL SYNDROME, BBS10 RELATED RESULT		7901084
3047805386	ASPARTYLGLYCOSAMINURIA RESULT	ASPARTYLGLYO	ASPARTYLGLYCOSAMINURIA RESULT		7901008
3047801646	CARNITINE PALMITOYLTRANSFERASE II DEFICI	CPTDEF	CARNITINE PALMITOYLTRANSFERASE II DEFICI		7901017
3047805482	FAMILIAL MEDITERRANEAN FEVER RESULT	FAMMED	FAMILIAL MEDITERRANEAN FEVER		7901031
3047805549	LIPOAMIDE DEHYDROGENASE DEFICIENCY RESULT	LDD	LIPOAMIDE DEHYDROGENASE DEFICIENCY RESULT		7901051
3047805583	NIJMEGEN BREAKAGE SYNDROME RESULT	NIJMEGEN	NIJMEGEN, RESULT		7901061
3047805648	SJOGREN-LARSSON SYNDROME RESULT	SJOG	SJOG, RESULT		7901071
3047805417	CARTILAGE-HAIR HYPOPLASIA RESULT	CARTHYPO	CARTILAGE HAIR HYPOPLASIA RESULT		7901018
3047805403	BIOTINIDASE DEFICIENCY RESULT	BIOTINIDASE	BIOTINIDASE DEFICIENCY RESULT		7901013
3047805525	INCLUSION BODY MYOPATHY 2 RESULT	IBM2	INCLUSION BODY MYOPATHY 2 RESULT		7901042
3047801972	CONGENITAL DISORDER OF GLYCOSYLATION TYP	CONDOGLYCTYP	CONGENITAL DISORDER OF GLYCOSYLATION TYP		7901196
3047802416	FANCONI ANEMIA COMPLEMENTATION GROUP A	FANCONIANC	FANCONI ANEMIA COMPLEMENTATION GROUP A		7901143
3047803364	LYSOSOMAL ACID LIPASE DEFICIENCY	LYSOSOMALAC	LYSOSOMAL ACID LIPASE DEFICIENCY		7901137
3047803501	METHYLMALONIC ACIDEMIA, CBLB TYPE	MEACCBLBTY	MEACCBLBTY		7901158
3047805596	ORNITHINE TRANSCARBAMYLASE DEFICIENCY RESULT	OTD	OTD, RESULT		7901167
3047804255	PRIMARY HYPEROXALURIA TYPE 3	PRHYTY3	PRIMARY HYPEROXALURIA TYPE 3		7901169
3047804392	PYRUVATE CARBOXYLASE DEFICIENCY	PYCARDEF	PYRUVATE CARBOXYLASE DEFICIENCY		7901172
3047802000	COSTEFF OPTIC ATROPHY SYNDROME	COSTEFFOP	COSTEFF OPTIC ATROPHY SYNDROME		7901097
3047802631	GLYCOGEN STORAGE DISEASE TYPE IA	GLYSTODITYLA	GLYCOGEN STORAGE DISEASE TYPE IA		7901037
3047805396	BARDET-BIEDL SYNDROME, BBS1-RELATED RESULT	BBS1	BARDET BIEDL SYNDROME, BBS1 RELATED RESULT		7901083
3047805390	ATAXIA-TELANGIECTASIA RESULT	ATAXIATELAN	ATAXIA TELANGIECTASIA RESULT		7901010
3047805440	CONGENITAL FINNISH NEPHROSIS RESULT	CONGFINNISH	CONGENITAL FINNISH NEPHROSIS RESULT		7901027
3047803395	MAPLE SYRUP URINE DISEASE TYPE 1B	MAPLEUR	MAPLE SYRUP URINE DISEASE TYPE 1B		7901053
3047805693	WILSON DISEASE RESULT	WILSONDIS	WILSONDIS, RESULT		7901079
3047803707	NEB-RELATED NEMALINE MYOPATHY	NEMALMYO	NEB RELATED NEMALINE MYOPATHY		7901091
3047805382	ANDERMANN SYNDROME RESULT	ANDERMANN	ANDERMANN SYNDROME RESULT		7901002
3047801644	CARNITINE PALMITOYLTRANSFERASE IA DEFICI	CPTDEF	CARNITINE PALMITOYLTRANSFERASE IA DEFICI		7901016
3047801652	CARRIER SCREEN	CARRIERSCRN	CARRIER SCREEN		145000601
3047805504	GAUCHER DISEASE RESULT	GAUCHER	GAUCHER DISEASE RESULT		7901034
3047800873	ADENOSINE DEAMINASE DEFICIENCY	ADDEF	ADDEF		7901127
3047802249	DYSTROPHINOPATHY (INCLUDING DUCHENNE/BEC	DYSTRODUCH	DYSTROPHINOPATHY		7901139
3047802377	EVC-RELATED ELLIS-VAN CREVELD SYNDROME	EVC	EVC RELATED ELLIS VAN CREVELD SYNDROME		7901190
3047805473	FABRY DISEASE RESULT	FABRY	FABRY DISEASE RESULT		7901141
3047802546	GAMMA-SARCOGLYCANOPATHY	GAMSARC	GAMMA SARCOGLYCANOPATHY		7901152
3047802592	GLB1-RELATED DISORDERS	GLBREDIS	GLB1 RELATED DISORDERS		7901146
3047803504	METHYLMALONIC ACIDURIA AND HOMOCYSTINURI	METHYLACID	METHYLMALONIC ACIDURIA AND HOMOCYSTINURI		7901159
3047803633	MUCOPOLYSACCHARIDOSIS TYPE IIIA	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS TYPE IIIA		7901122
3047803687	MYO7A-RELATED DISORDERS	MYO7A	MYO7A RELATED DISORDERS		7901181
3047804029	PEROXISOME BIOGENESIS DISORDER TYPE 3	PEBIODISTY3	PEBIODISTY3	Peroxisome Biogenesis Disorder Type 3	7901187
3047804031	PEROXISOME BIOGENESIS DISORDER TYPE 5	PEBIODITY5	PEBIODITY5	Peroxisome Biogenesis Disorder Type 5	7901188
3047804032	PEROXISOME BIOGENESIS DISORDER TYPE 6	PEBIDISTY6	PEBIDISTY6	Peroxisome Biogenesis Disorder Type 6	7901185
3047805295	XERODERMA PIGMENTOSUM GROUP A	XEPIGGRPA	XERODERMA PIGMENTOSUM GROUP A		7901184
3047805304	X-LINKED CONGENITAL ADRENAL HYPOPLASIA	XLIADHYPCON	X LINKED CONGENITAL ADRENAL HYPOPLASIA		7901193
3047805306	X-LINKED MYOTUBULAR MYOPATHY	XLIMYTUBMYO	X LINKED MYOTUBULAR MYOPATHY		7901197
3047805454	CYSTIC FIBROSIS RESULT	CYSTICFIB	CYSTIC FIBROSIS RESULT		7901019
3047804076	PHENYLALANINE HYDROXYLASE DEFICIENCY	PHHYDEF	PHENYLALANINE HYDROXYLASE DEFICIENCY		7901064
3047805686	USHER SYNDROME TYPE 3 RESULT	USHERSYND	USHERSYND, RESULT		7901077
3047803655	MUSCLE-EYE-BRAIN DISEASE	MUSEYEDIS	MUSCLE EYE BRAIN DISEASE		7901059
3047804567	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYP	RHCHPUTY	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYP		7901069
3047802417	FANCONI ANEMIA TYPE C	FANCONIANTPC	FANCONI ANEMIA TYPE C		7901032
3047802620	GLUTARIC ACIDEMIA TYPE 1	NTRAGLUCOADE	GLUTARIC ACIDEMIA TYPE 1		7901036
3047802896	HOMOCYSTINURIA / CYSTATHIONINE BETA-SYNT	HOMOCYSUR	HOMOCYSTINURIA CYSTATHIONINE BETA SYNT		7901046
3047804253	PRIMARY HYPEROXALURIA TYPE 1	PRHYTY1	PRIMARY HYPEROXALURIA TYPE 1		7901047
3047802960	HURLER SYNDROME	NTRAMUCTYPEI	HURLER SYNDROME		7901058
3047802632	GLYCOGEN STORAGE DISEASE TYPE IB	GLYSTODITYLB	GLYCOGEN STORAGE DISEASE TYPE IB		7901038
3047805413	CANAVAN DISEASE RESULT	CANAVAN	CANAVAN DISEASE RESULT		7901015
3047805540	ISOVALERIC ACIDEMIA RESULT	ISOVALERIC	ISOVALERIC ACIDEMIA RESULT		7901049
3047804211	POMPE DISEASE	POMDIS	POMPE DISEASE		7901039
3047804249	PRIMARY CARNITINE DEFICIENCY	PRCADEF	PRIMARY CARNITINE DEFICIENCY		7901094
3047802849	HJE BULLOSA, LAMB3-RELATED	JUEPBULLAMB3	HJE BULLOSA, LAMB3 RELATED		7901086
3047801034	AMT-RELATED GLYCINE ENCEPHALOPATHY	AMTRGE	AMT RELATED GLYCINE ENCEPHALOPATHY		7901144
3047801175	ARGININOSUCCINIC ACIDURIA	ARGINACI	ARGINACI	Argininosuccinic Aciduria	7901198
3047805500	GALACTOKINASE DEFICIENCY RESULT	GALACTODEF	GALACTOKINASE DEFICIENCY RESULT		7901192
3047802593	GLDC-RELATED GLYCINE ENCEPHALOPATHY	GLYENCGLDCRE	GLDC RELATED GLYCINE ENCEPHALOPATHY		7901145
3047803500	METHYLMALONIC ACIDEMIA, CBLA TYPE	MEACCBLATY	MEACCBLATY		7901160
3047804605	RTEL1-RELATED DISORDERS	RTEL1RELDIS	RTEL1 RELATED DISORDERS		7901140
3047804947	TGM1-RELATED AUTOSOMAL RECESSIVE CONGENI	TGM1	TGM1 RELATED AUTOSOMAL RECESSIVE CONGENI		7901151
3047804230	PPT1-RELATED NEURONAL CEROID LIPOFUSCINO	PPT1NECELI	PPT1 RELATED NEURONAL CEROID LIPOFUSCINO		7901066
3047805542	JOUBERT SYNDROME 2 RESULT	JOUBERTSY2	JOUBERT SYNDROME 2 RESULT		7901092
3047805508	GRACILE SYNDROME RESULT	GRACILE	GRACILE SYNDROME RESULT		7901043
3047803629	MUCOLIPIDOSIS IV	MUCOLIPID	MUCOLIPIDOSIS IV		7901057
3047805370	ALPHA-MANNOSIDOSIS RESULT	AMANNOSID	ALPHA MANNOSIDOSIS RESULT		7901005
3047803444	METACHROMATIC LEUKODYSTROPHY	METALEUKO	METACHROMATIC LEUKODYSTROPHY		7901056
3047805650	SMITH-LEMLI-OPITZ SYNDROME RESULT	SLOS	SLOS, RESULT		7901072
3047805226	VERY LONG CHAIN ACYL-COA DEHYDROGENASE D	VERYLONG	VERY LONG CHAIN ACYL COA DEHYDROGENASE D		7901095
3047805477	FAMILIAL DYSAUTONOMIA RESULT	FAMDYSA	FAMILIAL DYSAUTONOMIA RESULT		7901030
3047801847	CLN3-RELATED NEURONAL CEROID LIPOFUSCINO	CLNRNCL	CLN3 RELATED NEURONAL CEROID LIPOFUSCINO		7901021
3047805431	COHEN SYNDROME RESULT	COHENSYN	COHEN SYNDROME RESULT		7901024
3047800805	6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEF	6PYRUTETASYD	6 PYRUVOYL TETRAHYDROPTERIN SYNTHASE PTPS DEFICIENCY		7901126
3047801172	ARGININEMIA	ARGININEMIA	ARGININEMIA		7901133
3047805394	BARDET-BIEDL SYNDROME, BBS12-RELATED RESULT	BBS12	BARDET BIEDL SYNDROME, BBS12 RELATED RESULT		7901135
3047805419	CEREBROTENDINOUS XANTHOMATOSIS RESULT	CERBROTEND	CEREBROTENDINOUS XANTHOMATOSIS RESULT		7901136
3047801849	CLN6-RELATED NEURONAL CEROID LIPOFUSCINO	CLNRNCL	CLN6 RELATED NEURONAL CEROID LIPOFUSCINO		7901164
3047802335	ERCC6-RELATED DISORDERS	ERCC6	ERCC6 RELATED DISORDERS		7901194
3047802376	EVC2-RELATED ELLIS-VAN CREVELD SYNDROME	EVC2	EVC2 RELATED ELLIS VAN CREVELD SYNDROME		7901191
3047803302	LIPOID CONGENITAL ADRENAL HYPERPLASIA	LIPCONADRH	LIPOID CONGENITAL ADRENAL HYPERPLASIA		7901138
3047803396	MAPLE SYRUP URINE DISEASE TYPE IA	MAPLEUR	MAPLE SYRUP URINE DISEASE TYPE IA		7901156
3047805575	MUCOLIPIDOSIS III GAMMA RESULT	MUCOLIPGAM	MUCOLIPGAM, RESULT		7901163
3047804279	PROP1-RELATED COMBINED PITUITARY HORMONE	COPIHODEFPR1	PROP1 RELATED COMBINED PITUITARY HORMONE		7901067
3047804727	SHORT CHAIN ACYL-COA DEHYDROGENASE DEFIC	SHCHACYLCOA	SHORT CHAIN ACYL COA DEHYDROGENASE DEFIC		7901070
3047801223	AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DI	AUTORPKD	AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DI		7901065
3047803422	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH	MEGLEUKENCE	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH		7901055
3047802801	HEXOSAMINIDASE A DEFICIENCY	HEXOADEF	HEXOSAMINIDASE A DEFICIENCY		7901099
3047805656	SPINAL MUSCULAR ATROPHY	SMA	SMA, ATROPHY		7901089
3047804209	POLYGLANDULAR AUTOIMMUNE SYNDROME TYPE 1	POLYGLANDTY1	POLYGLANDULAR AUTOIMMUNE SYNDROME TYPE 1		7901011
3047805684	USHER SYNDROME TYPE 1F RESULT	USHERSYND	USHERSYND, RESULT		7901078
3047800948	ALPHA THALASSEMIA	ATHALASS	ALPHA THALASSEMIA		7901120
3047805456	CYSTINOSIS RESULT	CYSTINOSIS	CYSTINOSIS RESULT		7901028
3047804037	PEX1-RELATED ZELLWEGER SYNDROME SPECTRUM	NTRAZELLWEGE	PEX1 RELATED ZELLWEGER SYNDROME SPECTRUM		7901081
3047805307	X-LINKED SEVERE COMBINED IMMUNODEFICIENC	XLISECCOMIMM	X LINKED SEVERE COMBINED IMMUNODEFICIENC		7901176
3047805374	ALSTROM SYNDROME RESULT	ALSTROM	ALSTROM SYNDROME RESULT		7901132
3047801214	ATP7A-RELATED DISORDERS	ATP7ARD	ATP7A RELATED DISORDERS		7901166
3047801222	AUTOSOMAL RECESSIVE OSTEOPETROSIS TYPE 1	AUTOROT1	AUTOSOMAL RECESSIVE OSTEOPETROSIS TYPE 1		7901168
3047802118	DELTA-SARCOGLYCANOPATHY	DELTASARCO	DELTA SARCOGLYCANOPATHY		7901154
3047802475	FKRP-RELATED DISORDERS	FKRPRTDO	FKRP RELATED DISORDERS		7901121
3047803210	LAMA2-RELATED MUSCULAR DYSTROPHY	MUSCDYST	LAMA2 RELATED MUSCULAR DYSTROPHY		7901150
3047805547	LEIGH SYNDROME, FRENCH-CANADIAN TYPE RESULT	LEIGHSYN	LEIGH SYNDROME, FRENCH CANADIAN TYPE RESULT		7901199
3047803397	MAPLE SYRUP URINE DISEASE TYPE II	MAPLEUR	MAPLE SYRUP URINE DISEASE TYPE II		7901155
3047803539	MKS1-RELATED DISORDERS	MKS1	MKS1 RELATED DISORDERS		7901157
3047803634	MUCOPOLYSACCHARIDOSIS TYPE IIIB	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS TYPE IIIB		7901174
3047803743	NIEMANN-PICK DISEASE TYPE C2	NIEMPICKC2	NIEMANN PICK DISEASE, TYPE C2	Niemann-Pick Disease, Type C2	7901165
3047805303	X-LINKED ALPORT SYNDROME	XLIALSYN	X LINKED ALPORT SYNDROME		7901131
3047803800	NORTHERN EPILEPSY	EPILEPSY	NORTHERN EPILEPSY		7901023
3047805305	X-LINKED JUVENILE RETINOSCHISIS	XLIJUVRET	X LINKED JUVENILE RETINOSCHISIS		7901080
3047803284	LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2D	MUSCDYST2D	LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2D		7901006
3047805642	SALLA DISEASE RESULT	SALLADIS	SALLADIS, RESULT		7901033
3047805512	HEREDITARY FRUCTOSE INTOLERANCE RESULT	HEREDFRUC	HEREDITARY FRUCTOSE INTOLERANCE RESULT		7901044
3047802850	HJE BULLOSA, LAMC2-RELATED	JUEPIBULAMC2	HJE BULLOSA, LAMC2 RELATED		7901087
3047805622	PYCNODYSOSTOSIS RESULT	PYCNODY	PYCNODY, RESULT		7901068
3047804872	SULFATE TRANSPORTER-RELATED OSTEOCHONDRO	SULTRAOSTEO	SULFATE TRANSPORTER RELATED OSTEOCHONDRO		7901073
3047805145	TYROSINEMIA TYPE I	TYROTY1	TYROSINEMIA TYPE I		7901076
3047805044	TPP1-RELATED NEURONAL CEROID LIPOFUSCINO	TPP1NEURCER	TPP1 RELATED NEURONAL CEROID LIPOFUSCINO		7901074
3047805406	BLOOM SYNDROME RESULT	BLOOMSYN	BLOOM SYNDROME RESULT		7901014
3047801811	CITRULLINEMIA TYPE 1	CITRULLINEMI	CITRULLINEMIA TYPE 1		7901093
3047801970	CONGENITAL DISORDER OF GLYCOSYLATION LA	CONDOGLYCLA	CONGENITAL DISORDER OF GLYCOSYLATION LA		7901025
3047802633	GLYCOGEN STORAGE DISEASE TYPE III	NTRAGSDT3	GLYCOGEN STORAGE DISEASE TYPE III		7901040
3047803285	LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E	MUSCDYST2E	LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2E		7901012
3047803419	MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFI	ACYLCOA	MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFI		7901054
3047805398	BARDET-BIEDL SYNDROME, BBS2-RELATED RESULT	BBS2	BARDET BIEDL SYNDROME, BBS2 RELATED RESULT		7901134
3047801603	CALPAINOPATHY	CALPAIN	CALPAINOPATHY		7901153
3047801914	COL4A3-RELATED ALPORT SYNDROME	COLRAS	COL4A3 RELATED ALPORT SYNDROME		7901130
3047801915	COL4A4-RELATED ALPORT SYNDROME	COLRAS	COL4A4 RELATED ALPORT SYNDROME		7901129
3047802246	DYSFERLINOPATHY	DYSKERATCON	DYSFERLINOPATHY		7901123
3047803635	MUCOPOLYSACCHARIDOSIS TYPE IIIC	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS TYPE IIIC		7901175
3047805658	SPONDYLOTHORACIC DYSOSTOSIS RESULT	SPONDDYS	SPONDDYS, RESULT		7901178
3047805184	USH1C-RELATED DISORDERS	USH1CDIS	USH1C RELATED DISORDERS		7901182
3047805296	XERODERMA PIGMENTOSUM GROUP C	XEPIGGRPC	XERODERMA PIGMENTOSUM GROUP C		7901183
3047805302	X-LINKED ADRENOLEUKODYSTROPHY	XLIADRENO	X LINKED ADRENOLEUKODYSTROPHY		7901128
3047802985	HYPOPHOSPHATASIA, AUTOSOMAL RECESSIVE	HYPOPHOSREC	HYPOPHOSPHATASIA, AUTOSOMAL RECESSIVE		7901088
3047802704	HB BETA CHAIN-RELATED HEMOGLOBINOPATHY	HEMOGBETHB	HB BETA CHAIN RELATED HEMOGLOBINOPATHY		7901100
3047800824	ABCC8-RELATED HYPERINSULINISM	ABCC8RHYP	ABCC8 RELATED HYPERINSULINISM		7901000
3047801848	CLN5-RELATED NEURONAL CEROID LIPOFUSCINO	CLNRNCL	CLN5 RELATED NEURONAL CEROID LIPOFUSCINO		7901022
3047802591	GJB2-RELATED DFNB1 NONSYNDROMIC HEARING	GJBREDNON	GJB2 RELATED DFNB1 NONSYNDROMIC HEARING		7901035
3047804254	PRIMARY HYPEROXALURIA TYPE 2	PRHYTY2	PRIMARY HYPEROXALURIA TYPE 2		7901048
3047801964	CONGENITAL ADRENAL HYPERPLASIA	CONGADNHY	CONGENITAL ADRENAL HYPERPLASIA		7901119
3047805611	PENDRED SYNDROME RESULT	PENDREDSYN	PENDREDSYN, RESULT		7901062
3047805458	D-BIFUNCTIONAL PROTEIN DEFICIENCY RESULT	DBIFUNCPROT	D BIFUNCTIONAL PROTEIN DEFICIENCY RESULT		7901063
3047805517	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY RESULT	HSD	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY RESULT		7901147
3047805521	HYDROLETHALUS SYNDROME RESULT	HYDROSYN	HYDROLETHALUS SYNDROME RESULT		7901149
3047803632	MUCOPOLYSACCHARIDOSIS TYPE II	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS TYPE II		7901148
3047803663	MUT-RELATED METHYLMALONIC ACIDEMIA	METHYLMALAC	MUT RELATED METHYLMALONIC ACIDEMIA		7901161
3047804030	PEROXISOME BIOGENESIS DISORDER TYPE 4	PEBIDISTY4	PEBIDISTY4	Peroxisome Biogenesis Disorder Type 4	7901186
3047805644	SANDHOFF DISEASE RESULT	SANDHOFF	SANDHOFF, RESULT		7901173
3047805146	TYROSINEMIA TYPE II	TYROTY2	TYROSINEMIA TYPE II		7901179
3047805185	USH2A-RELATED DISORDERS	USH2ADIS	USH2A RELATED DISORDERS		7901180
3047805551	LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENA RESULT	LONGCHAIN3	LONG CHAIN 3 HYDROXYACYL COA DEHYDROGENA RESULT		7901052
3047803744	NIEMANN-PICK DISEASE, SMPD1-ASSOCIATED	NIEMPICKSMPD	NIEMANN PICK DISEASE, SMPD1	Niemann-Pick Disease, SMPD1-Associated	7901098
3047805502	GALACTOSEMIA RESULT	GALACTOSEMIA	GALACTOSEMIA RESULT		7901082
3047805388	ATAXIA WITH VITAMIN E DEFICIENCY RESULT	ATAXIAVITE	ATAXIA WITH VITAMIN E DEFIENCY RESULT		7901009
3047801971	CONGENITAL DISORDER OF GLYCOSYLATION LB	CONDOGLYCLB	CONGENITAL DISORDER OF GLYCOSYLATION LB		7901026
3047805660	STEROID-RESISTANT NEPHROTIC SYNDROME RESULT	SRNS	SRNS, RESULT		7901096
3047803742	NIEMANN-PICK DISEASE TYPE C	NIEMPICKC	NIEMANN PICK DISEASE, TYPE C	Niemann-Pick Disease, Type C	7901060
3047802848	HJE BULLOSA, LAMA3-RELATED	JUNEPIBULAM3	HJE BULLOSA, LAMA3 RELATED		7901085
3047801179	ARSACS	ARSACS	ARSACS		7901007
3047804681	SEGAWA SYNDROME	SEGSYND	SEGAWA SYNDROME		7901075
3047800757	11-BETA-HYDROXYLASE-DEFICIENT CONGENITAL	11BETAHYDECO	11 BETA HYDROXYLASE DEFICIENT CONGENITAL		7901124
3047801624	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIEN	CPSDEF	CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIEN		7901189
3047802336	ERCC8-RELATED DISORDERS	ERCC8	ERCC8 RELATED DISORDERS		7901195
3047802644	GNPTAB-RELATED DISORDERS	GNPTABREDIS	GNPTAB RELATED DISORDERS		7901162
3047802887	HMG-COA LYASE DEFICIENCY	HMGCOLYDEF	HMG COA LYASE DEFICIENCY		7901125
3047803182	KCNJ11-RELATED FAMILIAL HYPERINSULINISM	HYPERINSUL	KCNJ11 RELATED FAMILIAL HYPERINSULINISM		7901142
3047803986	PCCA-RELATED PROPIONIC ACIDEMIA	PCCAPROACI	PCCA RELATED PROPIONIC ACIDEMIA		7901170
3047803987	PCCB-RELATED PROPIONIC ACIDEMIA	PCCBPROACI	PCCB RELATED PROPIONIC ACIDEMIA		7901171
3047804790	SPASTIC PARAPLEGIA TYPE 15	SPASPARA15	SPASTIC PARAPLEGIA TYPE 15		7901177

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EPIC Test Compendium Alpha
Welcome to the new Northwell Health Labs Test Directory, please call our Client Services Department at 1-800-472-5757 with any typos, corrections or issues.