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.

Foresight Universal PLUS Carrier with Fragile X Epic Compendium

▶ Desired Epic Build * = editable field

Cerner Primary Mnemonic:

Universal PLUS Carrier w/FRX

PDM

1559071

Informatics - Workgroup

Molecular-send outs

Synonyms *

UCSPFRX
Universal PLUS Carrier w/FRX

Display Name *

Foresight Universal PLUS Carrier with Fragile X

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)

The test can detect over 176 health conditions that can be passed unknowingly from parent to child plus Fragile X.

IP Orderable (inpatient)

Yes

OP Orderable (outpatient)

Yes

AOEs *

AOE PDM	AOE Display	AOE Description	Prompt
1659837D	Pt completed Consent?	Pt completed Consent?	X
5302680A	Pregnancy Status	Pregnancy Status	X
AOE000001	Family History or Prior Testing	Family History or Prior Testing	X
AOE000002	Partner's full name	Partner's full name	X
AOE000003	Partner's date of birth	Partner's date of birth	X
AOE000004	Patient's Email Address	Patient's Email Address	X

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 Lab
Hofstra University POC
Huntington Hospital Laboratory
Illumina Laboratories
Int Med At 440 S Riverside Ave
Internal Medicine At 440 Mamaroneck Ave
Internal Medicine At 691 E Main St
Jet Blue Terminal 5 POC
Jones Beach Theater
LIJ Valley Stream Hospital Laboratory
LabCorp
Lenox Hill Laboratory
Long Island Ducks POC
Long Island Jewish Med Ctr

Manhattan Eye
Ear & Throat Hospital Lab
Mayo Medical Labs
Mfm At 480 Bedford Rd
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 Greenwich Village Hospital
Northwell Health Best Health Center
Northwell Health Direct-Special Events
Northwell Health Laboratories
Northwell Health System
PRL Laboratory
Peconic Bay Medical Center Laboratory
Pediatrics At 1015 Madison Ave
Phelps Memorial Hospital Labs
Pine Care Center
Plainview Hospital Laboratory
Point Of Care Testing
SIUH North Laboratory
SIUH Pouch Terminal Laboratory
SIUH Prince’s Bay Division Laboratory
SSUH Laboratory
South Oaks Hospital POC Lab
South Shore Family Practice POC
Syosset Hospital Laboratory
WHA Peds Allergy Rt 100
WHA Peds Commerce St
WHA Peds Elm Street
WHA Peds Smith Avenue
WHA Peds Westchester Avenue
Wellbridge Addiction Treatment POC

Cerner Results

Result Desc	Result display	Result PDM
Fanconi anemia type C	CSYL59	7901032
Primary hyperoxaluria type 2	CSYL91	7901048
Sulfate transporter-related osteochondrodysplasia	CSYL145	7901073
Cartilage-hair hypoplasia	CSYL33	7901018
Pendred syndrome	CSYL126	7901062
Isovaleric acidemia	CSYL96	7901049
Herlitz junctional epidermolysis bullosa, LAMB3-related	CSYL192	7901086
cerebrotendinous xanthomatosis	CSYL1100	7901136
hydrolethalus syndrome	CSYL1141	7901149
mucolipidosis III gamma	CSYL1165	7901163
mucopolysaccharidosis type IIIC	CSYL1197	7901175
MUT-related methylmalonic acidemia	CSYL1159	7901161
peroxisome biogenesis disorder type 3	CSYL1216	7901187
peroxisome biogenesis disorder type 4	CSYL1215	7901186
spastic paraplegia type 15	CSYL1201	7901177
spondylothoracic dysostosis	CSYL1203	7901178
Rhizomelic chondrodysplasia punctata type 1	CSYL139	7901069
Bardet-Biedl syndrome, BBS1-related	CSYL189	7901083
Polyglandular autoimmune syndrome type 1	CSYL19	7901011
Carnitine palmitoyltransferase II deficiency	CSYL32	7901017
GJB2-related DFNB1 nonsyndromic hearing loss and deafness	CSYL69	7901035
Lipoamide dehydrogenase deficiency	CSYL101	7901051
Metachromatic leukodystrophy	CSYL109	7901056
Nijmegen breakage syndrome	CSYL124	7901061
Sjogren-Larsson syndrome	CSYL142	7901071
TPP1-related neuronal ceroid lipofuscinosis	CSYL148	7901074
Biotinidase deficiency	CSYL25	7901013
Canavan disease	CSYL30	7901015
ARSACS	CSYL15	7901007
PEX1-related Zellweger syndrome spectrum	CSYL156	7901081
adenosine deaminase deficiency	CSYL1082	7901127
argininemia	CSYL1089	7901133
autosomal recessive osteopetrosis type 1	CSYL1180	7901168
dysferlinopathy	CSYL1006	7901123
dystrophinopathy (including Duchenne/Becker muscular dystrop	CSYL1115	7901139
ERCC8-related disorders	CSYL1268	7901195
EVC2-related Ellis-van Creveld syndrome	CSYL1233	7901191
Fanconi anemia complementation group A	CSYL1127	7901143
Leigh syndrome, French-Canadian type	CSYL99	7901199
maple syrup urine disease type II	CSYL1153	7901155
methylmalonic acidemia, cblA type	CSYL1158	7901160
mucopolysaccharidosis type II	CSYL1140	7901148
pyruvate carboxylase deficiency	CSYL1191	7901172
Krabbe disease	CSYL97	7901050
Hexosaminidase A deficiency	CSYL1025	7901099
Bardet-Biedl syndrome, BBS10-related	CSYL190	7901084
Ataxia with vitamin E deficiency	CSYL17	7901009
Primary hyperoxaluria type 1	CSYL90	7901047
Smith-Lemli-Opitz syndrome	CSYL143	7901072
D-bifunctional protein deficiency	CSYL127	7901063
6-pyruvoyl-tetrahydropterin synthase deficiency	CSYL1078	7901126
EVC-related Ellis-van Creveld syndrome	CSYL1232	7901190
FKRP-related disorders	CSYL100	7901121
GLB1-related disorders	CSYL1134	7901146
HMG-CoA lyase deficiency	CSYL1076	7901125
MYO7A-related disorders	CSYL1208	7901181
Niemann-Pick disease type C2	CSYL1173	7901165
ornithine transcarbamylase deficiency	CSYL1179	7901167
PCCB-related propionic acidemia	CSYL1189	7901171
peroxisome biogenesis disorder type 6	CSYL1214	7901185
RTEL1-related disorders	CSYL1116	7901140
Muscle-eye-brain disease	CSYL120	7901059
GRACILE syndrome	CSYL78	7901043
Aspartylglycosaminuria	CSYL16	7901008
Salla disease	CSYL63	7901033
Maple syrup urine disease type 1B	CSYL103	7901053
Herlitz junctional epidermolysis bullosa, LAMC2-related	CSYL193	7901087
NEB-related nemaline myopathy	CSYL1008	7901091
Bloom syndrome	CSYL27	7901014
Glycogen storage disease type III	CSYL75	7901040
Pompe disease	CSYL74	7901039
Medium chain acyl-CoA dehydrogenase deficiency	CSYL105	7901054
argininosuccinic aciduria	CSYL14	7901198
carbamoylphosphate synthetase I deficiency	CSYL1227	7901189
congenital disorder of glycosylation type Ic	CSYL1338	7901196
gamma-sarcoglycanopathy	CSYL1148	7901152
USH2A-related disorders	CSYL1207	7901180
xeroderma pigmentosum group A	CSYL1213	7901184
X-linked congenital adrenal hypoplasia	CSYL1259	7901193
Walker-Warburg syndrome	CSYL1024	7901118
Cystic fibrosis	CSYL34	7901019
Northern epilepsy	CSYL38	7901023
Short chain acyl-CoA dehydrogenase deficiency	CSYL140	7901070
Usher syndrome type 3	CSYL152	7901077
X-linked juvenile retinoschisis	CSYL155	7901080
Megalencephalic leukoencephalopathy with subcortical cysts	CSYL106	7901055
Galactosemia	CSYL187	7901082
Congenital disorder of glycosylation type Ib	CSYL42	7901026
Glutaric acidemia type 1	CSYL71	7901036
Hurler syndrome	CSYL116	7901058
Wilson disease	CSYL154	7901079
Very long chain acyl-CoA dehydrogenase deficiency	CSYL1019	7901095
Herlitz junctional epidermolysis bullosa, LAMA3-related	CSYL191	7901085
Congenital disorder of glycosylation type Ia	CSYL41	7901025
Inclusion body myopathy 2	CSYL77	7901042
11-beta-hydroxylase-deficient congenital adrenal hyperplasia	CSYL1073	7901124
Bardet-Biedl syndrome, BBS2-related	CSYL1095	7901134
galactokinase deficiency	CSYL1237	7901192
MKS1-related disorders	CSYL1155	7901157
primary hyperoxaluria type 3	CSYL1185	7901169
Sandhoff disease	CSYL1194	7901173
TGM1-related autosomal recessive congenital ichthyosis	CSYL1145	7901151
X-linked adrenoleukodystrophy	CSYL1083	7901128
Joubert syndrome 2	CSYL1016	7901092
Hypophosphatasia, autosomal recessive	CSYL196	7901088
Hb beta chain-related hemoglobinopathy	CSYL1026	7901100
Glycogen storage disease type Ia	CSYL72	7901037
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	CSYL102	7901052
Autosomal recessive polycystic kidney disease	CSYL131	7901065
Ataxia-telangiectasia	CSYL18	7901010
Congenital Finnish nephrosis	CSYL43	7901027
Pycnodysostosis	CSYL136	7901068
Usher syndrome type 1F	CSYL153	7901078
Steroid-resistant nephrotic syndrome	CSYL1020	7901096
Niemann-Pick disease type C	CSYL123	7901060
Andermann syndrome	CSYL7	7901002
Cystinosis	CSYL45	7901028
Citrullinemia type 1	CSYL1017	7901093
Familial dysautonomia	CSYL56	7901030
CLN3-related neuronal ceroid lipofuscinosis	CSYL36	7901021
Segawa syndrome	CSYL150	7901075
AMT-related glycine encephalopathy	CSYL1130	7901144
Bardet-Biedl syndrome, BBS12-related	CSYL1096	7901135
calpainopathy	CSYL1149	7901153
CLN6-related neuronal ceroid lipofuscinosis	CSYL1172	7901164
COL4A4-related Alport syndrome	CSYL1085	7901129
delta-sarcoglycanopathy	CSYL1150	7901154
ERCC6-related disorders	CSYL1267	7901194
KCNJ11-related familial hyperinsulinism	CSYL1125	7901142
lipoid congenital adrenal hyperplasia	CSYL1108	7901138
lysosomal acid lipase deficiency	CSYL1101	7901137
methylmalonic aciduria and homocystinuria, cblC type	CSYL1157	7901159
mucopolysaccharidosis type IIIB	CSYL1196	7901174
PCCA-related propionic acidemia	CSYL1188	7901170
Phenylalanine hydroxylase deficiency	CSYL130	7901064
Alpha-mannosidosis	CSYL10	7901005
Limb-girdle muscular dystrophy type 2D	CSYL11	7901006
Familial Mediterranean fever	CSYL58	7901031
Tyrosinemia type I	CSYL151	7901076
Alpha Thalassemia	CSYL12	7901120
Congenital Adrenal Hyperplasia	CSYL1	7901119
Fragile X Syndrome	CSYL1023	7901108
Carnitine palmitoyltransferase IA deficiency	CSYL31	7901016
Gaucher disease	CSYL67	7901034
Cohen syndrome	CSYL39	7901024
GNPTAB-related disorders	CSYL1164	7901162
holocarboxylase synthetase deficiency	CSYL1139	7901147
LAMA2-related muscular dystrophy	CSYL1144	7901150
mucopolysaccharidosis type IIIA	CSYL117	7901122
X-linked myotubular myopathy	CSYL1340	7901197
PPT1-related neuronal ceroid lipofuscinosis	CSYL132	7901066
PROP1-related combined pituitary hormone deficiency	CSYL133	7901067
Costeff optic atrophy syndrome	CSYL1021	7901097
Mucolipidosis IV	CSYL115	7901057
Niemann-Pick disease, SMPD1-associated	CSYL1022	7901098
Spinal muscular atrophy	CSYL1001	7901089
ABCC8-related hyperinsulinism	CSYL2	7901000
CLN5-related neuronal ceroid lipofuscinosis	CSYL37	7901022
Hereditary fructose intolerance	CSYL80	7901044
homocystinuria / cystathionine beta-synthase deficiency	CSYL87	7901046
Glycogen storage disease type Ib	CSYL73	7901038
Limb-girdle muscular dystrophy type 2E	CSYL23	7901012
Primary carnitine deficiency	CSYL1018	7901094
X-linked severe combined immunodeficiency	CSYL1199	7901176
Alstrom syndrome	CSYL1088	7901132
ATP7A-related disorders	CSYL1175	7901166
COL4A3-related Alport syndrome	CSYL1086	7901130
Fabry disease	CSYL1122	7901141
GLDC-related glycine encephalopathy	CSYL1131	7901145
maple syrup urine disease type Ia	CSYL1154	7901156
methylmalonic acidemia, cblB type	CSYL1156	7901158
peroxisome biogenesis disorder type 5	CSYL1217	7901188
tyrosinemia type II	CSYL1205	7901179
USH1C-related disorders	CSYL1209	7901182
xeroderma pigmentosum group C	CSYL1212	7901183
X-linked Alport syndrome	CSYL1087	7901131

Actual Epic Build 11/20/2025

PROCEDURE ID

115433

PDM

1559071

ORDER DISPLAY NAME

Foresight Universal PLUS Carrier with Fragile X

PROCEDURE NAME

UNIVERSAL PLUS CARRIER W/FRX

PROCEDURE MASTER NUMBER

LAB11559

SHORT PROCEDURE NAME

UNIVERSAL PLUS CARRIER W/FRX

CATEGORY CODE

15.0

CATEGORY CODE RECORD NAME

LAB CYTOGENETICS ORDERABLES

SYNONYMS

UCSPFRX
UNIVERSAL PLUS CARRIER W/FRX

CLINICALLY ACTIVE

Yes

ORDERABLE

Yes

PERFORMABLE

Yes

FILTER GENOMICS

Generic Genomics Procedure

REFERENCE LINK URL

https://labs.northwell.edu/epic/test/115433

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

11BETAHYDECO
6PYRUTETASYD
ABCC8RHYP
ACYLCOA
ADDEF
ALSTROM
AMANNOSID
AMTRGE
ANDERMANN
ARGINACI
ARGININEMIA
ARSACS
ASPARTYLGLYO
ATAXIATELAN
ATAXIAVITE
ATHALASS
ATP7ARD
AUTOROT1
AUTORPKD
BBS1
BBS10
BBS12
BBS2
BIOTINIDASE
BLOOMSYN
CALPAIN
CANAVAN
CARTHYPO
CERBROTEND
CITRULLINEMI
CLN3RNCL
CLN5RNCL
CLN6RNCL
COHENSYN
COLRAS
CONDOGLYCLA
CONDOGLYCLB
CONDOGLYCTYP
CONGADNHY
CONGFINNISH
COPIHODEFPR1
COSTEFFOP
CPSDEF
CPTDEF1A
CPTDEF2
CYSTICFIB
CYSTONOSIS
DBIFUNCPROT
DELTASARCO
DYSKERATCON
DYSTRODUCH
EPILEPSY
ERCC6
ERCC8
EVC
EVC2
FABRY
FAMDYSA
FAMMED
FANCONIANC
FANCONIANTPC
FKRPRTDO
FRAGILEX
GALACTODEF
GALACTOSEMIA
GAMSARC
GAUCHER
GJBREDNON
GLBREDIS
GLYENCGLDCRE
GLYSTODITYLA
GLYSTODITYLB
GNPTABREDIS
GRACILE
HEMOGBETHB
HEREDFRUC
HEXOADEF
HMGCOLYDEF
HOMOCYSUR
HSD
HYDROSYN
HYPERINSUL
HYPOPHOSREC
IBM2
ISOVALERIC
JOUBERTSY2
JUEPBULLAMB3
JUEPIBULAMC2
JUNEPIBULAM3
KRABBE
LDD
LEIGHSYN
LIPCONADRH
LONGCHAIN3
LYSOSOMALAC
MAPLEUR1A
MAPLEUR1B
MAPLEUR2
MEACCBLATY
MEACCBLBTY
MEGLEUKENCE
METALEUKO
METHYLACID
METHYLMALAC
MKS1
MUCOLIPGAM
MUCOLIPID
MUCOPOLYSA3A
MUCOPOLYSA3B
MUCOPOLYSA3C
MUCOPOLYSAC2
MUSCDYST
MUSCDYST2D
MUSCDYST2E
MUSEYEDIS
MYO7A
NEMALMYO
NIEMPICKC
NIEMPICKC2
NIEMPICKSMPD
NIJMEGEN
NTRAGLUCOADE
NTRAGSDT3
NTRAMUCTYPEI
NTRAZELLWEGE
OTD
PCCAPROACI
PCCBPROACI
PEBIDISTY4
PEBIDISTY6
PEBIODISTY3
PEBIODITY5
PENDREDSYN
PHHYDEF
POLYGLANDTY1
POMDIS
PPT1NECELI
PRCADEF
PRHYTY1
PRHYTY2
PRHYTY3
PYCARDEF
PYCNODY
RHCHPUTY
RTEL1RELDIS
SALLADIS
SANDHOFF
SEGSYND
SHCHACYLCOA
SJOG
SLOS
SMA
SPASPARA15
SPECAPPEAR
SPONDDYS
SRNS
SULTRAOSTEO
TGM1
TPP1NEURCER
TYROTY1
TYROTY2
USH1CDIS
USH2ADIS
USHERSYND
VERYLONG
WILSONDIS
WWSYND
XEPIGGRPA
XEPIGGRPC
XLIADHYPCON
XLIADRENO
XLIALSYN
XLIJUVRET
XLIMYTUBMYO
XLISECCOMIMM

OP LAB TEST COMPONENTS FOR REPORT

ORDER QUESTIONS

["3048500036", "3048500003", "3048500004", "3045300090", "3045300091", "3045300092"]

ORDER QUESTIONS RECORD NAME

NH IP ETHNICITY CUSTOM LIST
NH IP PREGNANCY STATUS
NH IP PATIENTS EMAIL ADDRESS
NH IP FAMILY HISTORY OR PRIOR TESTING (FREE TEXT)
NH IP PARTNERS FULL NAME
NH IP PARTNERS DATE OF BIRTH

INPATIENT ORDER QUESTIONS

["3048500036", "3048500003", "3048500004", "3045300090", "3045300091", "3045300092"]

INPATIENT ORDER QUESTIONS RECORD NAME

NH IP ETHNICITY CUSTOM LIST
NH IP PREGNANCY STATUS
NH IP PATIENTS EMAIL ADDRESS
NH IP FAMILY HISTORY OR PRIOR TESTING (FREE TEXT)
NH IP PARTNERS FULL NAME
NH IP PARTNERS DATE OF BIRTH

ORDER SPECIFIC QUESTION OVERRIDE

Yes

INPATIENT QUESTION OVERRIDE

Yes

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
3045300090	NH IP FAMILY HISTORY OR PRIOR TESTING (FREE TEXT)	Family History or Prior Testing	Free Text		No
3045300091	NH IP PARTNERS FULL NAME	Partner's Full Name	Free Text		No
3045300092	NH IP PARTNERS DATE OF BIRTH	Partner's Date of Birth	Date		No
3048500003	NH IP PREGNANCY STATUS	Pregnancy Status	Custom List	Yes No Probable	No
3048500004	NH IP PATIENTS EMAIL ADDRESS	Patient's Email Address	Free Text		No
3048500036	NH IP ETHNICITY CUSTOM LIST

EPIC IP AOEs

Question ID	Question Name	Question	Response Type	Response List	Require Response
3045300090	NH IP FAMILY HISTORY OR PRIOR TESTING (FREE TEXT)	Family History or Prior Testing	Free Text		No
3045300091	NH IP PARTNERS FULL NAME	Partner's Full Name	Free Text		No
3045300092	NH IP PARTNERS DATE OF BIRTH	Partner's Date of Birth	Date		No
3048500003	NH IP PREGNANCY STATUS	Pregnancy Status	Custom List	Yes No Probable	No
3048500004	NH IP PATIENTS EMAIL ADDRESS	Patient's Email Address	Free Text		No
3048500036	NH IP ETHNICITY CUSTOM LIST

EPIC Components (results - crosswalked through Cerner)

Component ID	Component Name	Base Name	Common Name	External Name	Cerner Result PDM
3047802417.0	FANCONI ANEMIA TYPE C	FANCONIANTPC	FANCONI ANEMIA TYPE C	Fanconi Anemia Type C	7901032
3047804254.0	PRIMARY HYPEROXALURIA TYPE 2	PRHYTY2	PRIMARY HYPEROXALURIA TYPE 2	Primary Hyperoxaluria Type 2	7901048
3047804872.0	SULFATE TRANSPORTER-RELATED OSTEOCHONDRO	SULTRAOSTEO	SULFATE TRANSPORTER RELATED OSTEOCHONDRO	Sulfate Transporter-Related Osteochondro	7901073
3047805417.0	CARTILAGE-HAIR HYPOPLASIA RESULT	CARTHYPO	CARTILAGE HAIR HYPOPLASIA RESULT	Cartilage-Hair Hypoplasia Result	7901018
3047805611.0	PENDRED SYNDROME RESULT	PENDREDSYN	PENDREDSYN, RESULT	Pendred Syndrome	7901062
3047805540.0	ISOVALERIC ACIDEMIA RESULT	ISOVALERIC	ISOVALERIC ACIDEMIA RESULT	Isovaleric Acidemia	7901049
3047802849.0	HJE BULLOSA, LAMB3-RELATED	JUEPBULLAMB3	HJE BULLOSA, LAMB3 RELATED	HJE Bullosa, LAMB3-Related	7901086
3047805419.0	CEREBROTENDINOUS XANTHOMATOSIS RESULT	CERBROTEND	CEREBROTENDINOUS XANTHOMATOSIS RESULT	Cerebrotendinous Xanthomatosis	7901136
3047805521.0	HYDROLETHALUS SYNDROME RESULT	HYDROSYN	HYDROLETHALUS SYNDROME RESULT	Hydrolethalus Syndrome	7901149
3047805575.0	MUCOLIPIDOSIS III GAMMA RESULT	MUCOLIPGAM	MUCOLIPGAM, RESULT	Mucolipidosis III Gamma	7901163
3047803635.0	MUCOPOLYSACCHARIDOSIS TYPE IIIC	MUCOPOLYSA3C	MUCOPOLYSACCHARIDOSIS TYPE IIIC	Mucopolysaccharidosis Type IIIC	7901175
3047803663.0	MUT-RELATED METHYLMALONIC ACIDEMIA	METHYLMALAC	MUT RELATED METHYLMALONIC ACIDEMIA	MUT-Related Methylmalonic Acidemia	7901161
3047804029.0	PEROXISOME BIOGENESIS DISORDER TYPE 3	PEBIODISTY3	PEBIODISTY3	Peroxisome Biogenesis Disorder Type 3	7901187
3047804030.0	PEROXISOME BIOGENESIS DISORDER TYPE 4	PEBIDISTY4	PEBIDISTY4	Peroxisome Biogenesis Disorder Type 4	7901186
3047804790.0	SPASTIC PARAPLEGIA TYPE 15	SPASPARA15	SPASTIC PARAPLEGIA TYPE 15	Spastic Paraplegia Type 15	7901177
3047805658.0	SPONDYLOTHORACIC DYSOSTOSIS RESULT	SPONDDYS	SPONDDYS, RESULT	Spondylothoracic Dysostosis	7901178
3047804567.0	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYP	RHCHPUTY	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYP	Rhizomelic Chondrodysplasia Punctata Typ	7901069
3047805396.0	BARDET-BIEDL SYNDROME, BBS1-RELATED RESULT	BBS1	BARDET BIEDL SYNDROME, BBS1 RELATED RESULT	Bardet-Biedl Syndrome, BBS1-Related	7901083
3047804209.0	POLYGLANDULAR AUTOIMMUNE SYNDROME TYPE 1	POLYGLANDTY1	POLYGLANDULAR AUTOIMMUNE SYNDROME TYPE 1	Polyglandular Autoimmune Syndrome Type 1	7901011
3047801646.0	CARNITINE PALMITOYLTRANSFERASE II DEFICI	CPTDEF2	CARNITINE PALMITOYLTRANSFERASE II DEFICI	Carnitine Palmitoyltransferase II Defici	7901017
3047802591.0	GJB2-RELATED DFNB1 NONSYNDROMIC HEARING	GJBREDNON	GJB2 RELATED DFNB1 NONSYNDROMIC HEARING	GJB2-Related DFNB1 Nonsyndromic Hearing	7901035
3047805549.0	LIPOAMIDE DEHYDROGENASE DEFICIENCY RESULT	LDD	LIPOAMIDE DEHYDROGENASE DEFICIENCY RESULT	Lipoamide Dehydrogenase Deficiency	7901051
3047803444.0	METACHROMATIC LEUKODYSTROPHY	METALEUKO	METACHROMATIC LEUKODYSTROPHY	Metachromatic Leukodystrophy	7901056
3047805583.0	NIJMEGEN BREAKAGE SYNDROME RESULT	NIJMEGEN	NIJMEGEN, RESULT	Nijmegen Breakage Syndrome	7901061
3047805648.0	SJOGREN-LARSSON SYNDROME RESULT	SJOG	SJOG, RESULT	Sjogren-Larsson Syndrome	7901071
3047805044.0	TPP1-RELATED NEURONAL CEROID LIPOFUSCINO	TPP1NEURCER	TPP1 RELATED NEURONAL CEROID LIPOFUSCINO	TPP1-Related Neuronal Ceroid Lipofuscino	7901074
3047805403.0	BIOTINIDASE DEFICIENCY RESULT	BIOTINIDASE	BIOTINIDASE DEFICIENCY RESULT	Biotinidase Deficiency	7901013
3047805413.0	CANAVAN DISEASE RESULT	CANAVAN	CANAVAN DISEASE RESULT	Canavan Disease	7901015
3047801179.0	ARSACS	ARSACS	ARSACS	Arsacs	7901007
3047804037.0	PEX1-RELATED ZELLWEGER SYNDROME SPECTRUM	NTRAZELLWEGE	PEX1 RELATED ZELLWEGER SYNDROME SPECTRUM	PEX1-Related Zellweger Syndrome Spectrum	7901081
3047800873.0	ADENOSINE DEAMINASE DEFICIENCY	ADDEF	ADDEF	Adenosine Deaminase Deficiency	7901127
3047801172.0	ARGININEMIA	ARGININEMIA	ARGININEMIA	Argininemia	7901133
3047801222.0	AUTOSOMAL RECESSIVE OSTEOPETROSIS TYPE 1	AUTOROT1	AUTOSOMAL RECESSIVE OSTEOPETROSIS TYPE 1	Autosomal Recessive Osteopetrosis Type 1	7901168
3047802246.0	DYSFERLINOPATHY	DYSKERATCON	DYSFERLINOPATHY	Dysferlinopathy	7901123
3047802249.0	DYSTROPHINOPATHY (INCLUDING DUCHENNE/BEC	DYSTRODUCH	DYSTROPHINOPATHY	Dystrophinopathy (Including Duchenne/Bec	7901139
3047802336.0	ERCC8-RELATED DISORDERS	ERCC8	ERCC8 RELATED DISORDERS	ERCC8-Related Disorders	7901195
3047802376.0	EVC2-RELATED ELLIS-VAN CREVELD SYNDROME	EVC2	EVC2 RELATED ELLIS VAN CREVELD SYNDROME	EVC2-Related Ellis-Van Creveld Syndrome	7901191
3047802416.0	FANCONI ANEMIA COMPLEMENTATION GROUP A	FANCONIANC	FANCONI ANEMIA COMPLEMENTATION GROUP A	Fanconi Anemia Complementation Group A	7901143
3047805547.0	LEIGH SYNDROME, FRENCH-CANADIAN TYPE RESULT	LEIGHSYN	LEIGH SYNDROME, FRENCH CANADIAN TYPE RESULT	Leigh Syndrome, French-Canadian Type Result	7901199
3047803397.0	MAPLE SYRUP URINE DISEASE TYPE II	MAPLEUR2	MAPLE SYRUP URINE DISEASE TYPE II	Maple Syrup Urine Disease Type II	7901155
3047803500.0	METHYLMALONIC ACIDEMIA, CBLA TYPE	MEACCBLATY	MEACCBLATY	Methylmalonic Aciduria, cbIA Type	7901160
3047803632.0	MUCOPOLYSACCHARIDOSIS TYPE II	MUCOPOLYSAC2	MUCOPOLYSACCHARIDOSIS TYPE II	Mucopolysaccharidosis Type II	7901148
3047804392.0	PYRUVATE CARBOXYLASE DEFICIENCY	PYCARDEF	PYRUVATE CARBOXYLASE DEFICIENCY	Pyruvate Carboxylase Deficiency	7901172
3047805545.0	KRABBE DISEASE RESULT	KRABBE	KRABBE DISEASE RESULT	Krabbe Disease	7901050
3047802801.0	HEXOSAMINIDASE A DEFICIENCY	HEXOADEF	HEXOSAMINIDASE A DEFICIENCY	Hexosaminidase A Deficiency	7901099
3047805392.0	BARDET-BIEDL SYNDROME, BBS10-RELATED RESULT	BBS10	BARDET BIEDL SYNDROME, BBS10 RELATED RESULT	Bardet-Biedl Syndrome, BBS10-Related	7901084
3047805388.0	ATAXIA WITH VITAMIN E DEFICIENCY RESULT	ATAXIAVITE	ATAXIA WITH VITAMIN E DEFIENCY RESULT	Ataxia with Vitamin E Deficiency	7901009
3047804253.0	PRIMARY HYPEROXALURIA TYPE 1	PRHYTY1	PRIMARY HYPEROXALURIA TYPE 1	Primary Hyperoxaluria Type 1	7901047
3047805650.0	SMITH-LEMLI-OPITZ SYNDROME RESULT	SLOS	SLOS, RESULT	Smith-Lemli-Opitz Syndrome	7901072
3047805458.0	D-BIFUNCTIONAL PROTEIN DEFICIENCY RESULT	DBIFUNCPROT	D BIFUNCTIONAL PROTEIN DEFICIENCY RESULT	D-Bifunctional Protein Deficiency	7901063
3047800805.0	6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEF	6PYRUTETASYD	6 PYRUVOYL TETRAHYDROPTERIN SYNTHASE PTPS DEFICIENCY	6-Pyruvoyl-Tetrahydropterin Synthase Def	7901126
3047802377.0	EVC-RELATED ELLIS-VAN CREVELD SYNDROME	EVC	EVC RELATED ELLIS VAN CREVELD SYNDROME	EVC-Related Ellis-Van Creveld Syndrome	7901190
3047802475.0	FKRP-RELATED DISORDERS	FKRPRTDO	FKRP RELATED DISORDERS	FKRP-Related Disorders	7901121
3047802592.0	GLB1-RELATED DISORDERS	GLBREDIS	GLB1 RELATED DISORDERS	GLB1-Related Disorders	7901146
3047802887.0	HMG-COA LYASE DEFICIENCY	HMGCOLYDEF	HMG COA LYASE DEFICIENCY	HMG-CoA Lyase Deficiency	7901125
3047803687.0	MYO7A-RELATED DISORDERS	MYO7A	MYO7A RELATED DISORDERS	MYO7A-Related Disorders	7901181
3047803743.0	NIEMANN-PICK DISEASE TYPE C2	NIEMPICKC2	NIEMANN PICK DISEASE, TYPE C2	Niemann-Pick Disease, Type C2	7901165
3047805596.0	ORNITHINE TRANSCARBAMYLASE DEFICIENCY RESULT	OTD	OTD, RESULT	Ornithine Transcarbamylase Deficiency	7901167
3047803987.0	PCCB-RELATED PROPIONIC ACIDEMIA	PCCBPROACI	PCCB RELATED PROPIONIC ACIDEMIA	PCCB-Related Propionic Acidemia	7901171
3047804032.0	PEROXISOME BIOGENESIS DISORDER TYPE 6	PEBIDISTY6	PEBIDISTY6	Peroxisome Biogenesis Disorder Type 6	7901185
3047804605.0	RTEL1-RELATED DISORDERS	RTEL1RELDIS	RTEL1 RELATED DISORDERS	RTEL1-Related Disorders	7901140
3047803655.0	MUSCLE-EYE-BRAIN DISEASE	MUSEYEDIS	MUSCLE EYE BRAIN DISEASE	Muscle-Eye-Brain Disease	7901059
3047805508.0	GRACILE SYNDROME RESULT	GRACILE	GRACILE SYNDROME RESULT	GRACILE Syndrome	7901043
3047805386.0	ASPARTYLGLYCOSAMINURIA RESULT	ASPARTYLGLYO	ASPARTYLGLYCOSAMINURIA RESULT	Aspartylglycosaminuria	7901008
3047805642.0	SALLA DISEASE RESULT	SALLADIS	SALLADIS, RESULT	Salla Disease	7901033
3047803395.0	MAPLE SYRUP URINE DISEASE TYPE 1B	MAPLEUR1B	MAPLE SYRUP URINE DISEASE TYPE 1B	Maple Syrup Urine Disease Type 1B	7901053
3047802850.0	HJE BULLOSA, LAMC2-RELATED	JUEPIBULAMC2	HJE BULLOSA, LAMC2 RELATED	HJE Bullosa, LAMC2-Related	7901087
3047803707.0	NEB-RELATED NEMALINE MYOPATHY	NEMALMYO	NEB RELATED NEMALINE MYOPATHY	NEB-Related Nemaline Myopathy	7901091
3047805406.0	BLOOM SYNDROME RESULT	BLOOMSYN	BLOOM SYNDROME RESULT	Bloom Syndrome	7901014
3047802633.0	GLYCOGEN STORAGE DISEASE TYPE III	NTRAGSDT3	GLYCOGEN STORAGE DISEASE TYPE III	Glycogen Storage Disease Type III	7901040
3047804211.0	POMPE DISEASE	POMDIS	POMPE DISEASE	Pompe Disease	7901039
3047803419.0	MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFI	ACYLCOA	MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFI	Medium Chain Acyl-CoA Dehydrogenase Defi	7901054
3047801175.0	ARGININOSUCCINIC ACIDURIA	ARGINACI	ARGINACI	Argininosuccinic Aciduria	7901198
3047801624.0	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY	CPSDEF	CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIEN	Carbamoyl Phosphate Synthetase I Deficiency	7901189
3047801972.0	CONGENITAL DISORDER OF GLYCOSYLATION TYP	CONDOGLYCTYP	CONGENITAL DISORDER OF GLYCOSYLATION TYP	Congenital Disorder of Glycosylation Typ	7901196
3047802546.0	GAMMA-SARCOGLYCANOPATHY	GAMSARC	GAMMA SARCOGLYCANOPATHY	Gamma-Sarcoglycanopathy	7901152
3047805185.0	USH2A-RELATED DISORDERS	USH2ADIS	USH2A RELATED DISORDERS	USH2A-Related Disorders	7901180
3047805295.0	XERODERMA PIGMENTOSUM GROUP A	XEPIGGRPA	XERODERMA PIGMENTOSUM GROUP A	Xeroderma Pigmentosum Group A	7901184
3047805304.0	X-LINKED CONGENITAL ADRENAL HYPOPLASIA	XLIADHYPCON	X LINKED CONGENITAL ADRENAL HYPOPLASIA	X-Linked Congenital Adrenal Hypoplasia	7901193
3047805688.0	WALKER-WARBURG SYNDROME RESULT	WWSYND	WWSYND, RESULT	Walker-Warburg Syndrome	7901118
3047805454.0	CYSTIC FIBROSIS RESULT	CYSTICFIB	CYSTIC FIBROSIS RESULT	Cystic Fibrosis	7901019
3047803800.0	NORTHERN EPILEPSY	EPILEPSY	NORTHERN EPILEPSY	Northern Epilepsy	7901023
3047804727.0	SHORT CHAIN ACYL-COA DEHYDROGENASE DEFIC	SHCHACYLCOA	SHORT CHAIN ACYL COA DEHYDROGENASE DEFIC	Short Chain Acyl-CoA Dehydrogenase Defic	7901070
3047805686.0	USHER SYNDROME TYPE 3 RESULT	USHERSYND	USHERSYND, RESULT	Usher Syndrome Type 3	7901077
3047805305.0	X-LINKED JUVENILE RETINOSCHISIS	XLIJUVRET	X LINKED JUVENILE RETINOSCHISIS	X-Linked Juvenile Retinoschisis	7901080
3047803422.0	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH	MEGLEUKENCE	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH	Megalencephalic Leukoencephalopathy With	7901055
3047805502.0	GALACTOSEMIA RESULT	GALACTOSEMIA	GALACTOSEMIA RESULT	Galactosemia	7901082
3047801971.0	CONGENITAL DISORDER OF GLYCOSYLATION LB	CONDOGLYCLB	CONGENITAL DISORDER OF GLYCOSYLATION LB	Congenital Disorder of Glycosylation lb	7901026
3047802620.0	GLUTARIC ACIDEMIA TYPE 1	NTRAGLUCOADE	GLUTARIC ACIDEMIA TYPE 1	Glutaric Acidemia Type 1	7901036
3047802960.0	HURLER SYNDROME	NTRAMUCTYPEI	HURLER SYNDROME	Hurler Syndrome	7901058
3047805693.0	WILSON DISEASE RESULT	WILSONDIS	WILSONDIS, RESULT	Wilson Disease	7901079
3047805226.0	VERY LONG CHAIN ACYL-COA DEHYDROGENASE D	VERYLONG	VERY LONG CHAIN ACYL COA DEHYDROGENASE D	Very Long Chain Acyl-CoA Dehydrogenase D	7901095
3047802848.0	HJE BULLOSA, LAMA3-RELATED	JUNEPIBULAM3	HJE BULLOSA, LAMA3 RELATED	HJE Bullosa, LAMA3-Related	7901085
3047801970.0	CONGENITAL DISORDER OF GLYCOSYLATION LA	CONDOGLYCLA	CONGENITAL DISORDER OF GLYCOSYLATION LA	Congenital Disorder of Glycosylation la	7901025
3047805525.0	INCLUSION BODY MYOPATHY 2 RESULT	IBM2	INCLUSION BODY MYOPATHY 2 RESULT	Inclusion Body Myopathy 2	7901042
3047800757.0	11-BETA-HYDROXYLASE-DEFICIENT CONGENITAL	11BETAHYDECO	11 BETA HYDROXYLASE DEFICIENT CONGENITAL	11-Beta-Hydroxylase-Deficient Congenital	7901124
3047805398.0	BARDET-BIEDL SYNDROME, BBS2-RELATED RESULT	BBS2	BARDET BIEDL SYNDROME, BBS2 RELATED RESULT	Bardet-Biedl Syndrome, BBS2-Related	7901134
3047805500.0	GALACTOKINASE DEFICIENCY RESULT	GALACTODEF	GALACTOKINASE DEFICIENCY RESULT	Galactokinase Deficiency	7901192
3047803539.0	MKS1-RELATED DISORDERS	MKS1	MKS1 RELATED DISORDERS	MKS1-Related Disorders	7901157
3047804255.0	PRIMARY HYPEROXALURIA TYPE 3	PRHYTY3	PRIMARY HYPEROXALURIA TYPE 3	Primary Hyperoxaluria Type 3	7901169
3047805644.0	SANDHOFF DISEASE RESULT	SANDHOFF	SANDHOFF, RESULT	Sandhoff Disease	7901173
3047804947.0	TGM1-RELATED AUTOSOMAL RECESSIVE CONGENI	TGM1	TGM1 RELATED AUTOSOMAL RECESSIVE CONGENI	TGM1-Related Autosomal Recessive Congeni	7901151
3047805302.0	X-LINKED ADRENOLEUKODYSTROPHY	XLIADRENO	X LINKED ADRENOLEUKODYSTROPHY	X-Linked Adrenoleukodystrophy	7901128
3047805542.0	JOUBERT SYNDROME 2 RESULT	JOUBERTSY2	JOUBERT SYNDROME 2 RESULT	Joubert Syndrome 2	7901092
3047802985.0	HYPOPHOSPHATASIA, AUTOSOMAL RECESSIVE	HYPOPHOSREC	HYPOPHOSPHATASIA, AUTOSOMAL RECESSIVE	Hypophosphatasia, Autosomal Recessive	7901088
3047802704.0	HB BETA CHAIN-RELATED HEMOGLOBINOPATHY	HEMOGBETHB	HB BETA CHAIN RELATED HEMOGLOBINOPATHY	Hb Beta Chain-Related Hemoglobinopathy	7901100
3047802631.0	GLYCOGEN STORAGE DISEASE TYPE IA	GLYSTODITYLA	GLYCOGEN STORAGE DISEASE TYPE IA	Glycogen Storage Disease Type Ia	7901037
3047805551.0	LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENA RESULT	LONGCHAIN3	LONG CHAIN 3 HYDROXYACYL COA DEHYDROGENA RESULT	Long Chain 3-Hydroxyacyl-CoA Dehydrogena	7901052
3047801223.0	AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DI	AUTORPKD	AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DI	Autosomal Recessive Polycystic Kidney Di	7901065
3047805390.0	ATAXIA-TELANGIECTASIA RESULT	ATAXIATELAN	ATAXIA TELANGIECTASIA RESULT	Ataxia-Telangiectasia	7901010
3047805440.0	CONGENITAL FINNISH NEPHROSIS RESULT	CONGFINNISH	CONGENITAL FINNISH NEPHROSIS RESULT	Congenital Finnish Nephrosis	7901027
3047805622.0	PYCNODYSOSTOSIS RESULT	PYCNODY	PYCNODY, RESULT	Pycnodysostosis	7901068
3047805684.0	USHER SYNDROME TYPE 1F RESULT	USHERSYND	USHERSYND, RESULT	Usher Syndrome Type 1F	7901078
3047805660.0	STEROID-RESISTANT NEPHROTIC SYNDROME RESULT	SRNS	SRNS, RESULT	Steroid-Resistant Nephrotic Syndrome	7901096
3047803742.0	NIEMANN-PICK DISEASE TYPE C	NIEMPICKC	NIEMANN PICK DISEASE, TYPE C	Niemann-Pick Disease, Type C	7901060
3047805382.0	ANDERMANN SYNDROME RESULT	ANDERMANN	ANDERMANN SYNDROME RESULT	Andermann Syndrome	7901002
3047805456.0	CYSTINOSIS RESULT	CYSTONOSIS	CYSTINOSIS RESULT	Cystinosis	7901028
3047801811.0	CITRULLINEMIA TYPE 1	CITRULLINEMI	CITRULLINEMIA TYPE 1	Citrullinemia Type 1	7901093
3047805477.0	FAMILIAL DYSAUTONOMIA RESULT	FAMDYSA	FAMILIAL DYSAUTONOMIA RESULT	Familial Dysautonomia	7901030
3047801847.0	CLN3-RELATED NEURONAL CEROID LIPOFUSCINO	CLN3RNCL	CLN3 RELATED NEURONAL CEROID LIPOFUSCINO	CLN3-Related Neuronal Ceroid Lipofuscino	7901021
3047804681.0	SEGAWA SYNDROME	SEGSYND	SEGAWA SYNDROME	Segawa Syndrome	7901075
3047801034.0	AMT-RELATED GLYCINE ENCEPHALOPATHY	AMTRGE	AMT RELATED GLYCINE ENCEPHALOPATHY	AMT-Related Glycine Encephalopathy	7901144
3047805394.0	BARDET-BIEDL SYNDROME, BBS12-RELATED RESULT	BBS12	BARDET BIEDL SYNDROME, BBS12 RELATED RESULT	Bardet-Biedl Syndrome, BBS12-Related	7901135
3047801603.0	CALPAINOPATHY	CALPAIN	CALPAINOPATHY	Calpainopathy	7901153
3047801849.0	CLN6-RELATED NEURONAL CEROID LIPOFUSCINO	CLN6RNCL	CLN6 RELATED NEURONAL CEROID LIPOFUSCINO	CLN6-Related Neuronal Ceroid Lipofuscino	7901164
3047801915.0	COL4A4-RELATED ALPORT SYNDROME	COLRAS	COL4A4 RELATED ALPORT SYNDROME	COL4A4-Related Alport Syndrome	7901129
3047802118.0	DELTA-SARCOGLYCANOPATHY	DELTASARCO	DELTA SARCOGLYCANOPATHY	Delta-Sarcoglycanopathy	7901154
3047802335.0	ERCC6-RELATED DISORDERS	ERCC6	ERCC6 RELATED DISORDERS	ERCC6-Related Disorders	7901194
3047803182.0	KCNJ11-RELATED FAMILIAL HYPERINSULINISM	HYPERINSUL	KCNJ11 RELATED FAMILIAL HYPERINSULINISM	KCNJ11-Related Familial Hyperinsulinism	7901142
3047803302.0	LIPOID CONGENITAL ADRENAL HYPERPLASIA	LIPCONADRH	LIPOID CONGENITAL ADRENAL HYPERPLASIA	Lipoid Congenital Adrenal Hyperplasia	7901138
3047803364.0	LYSOSOMAL ACID LIPASE DEFICIENCY	LYSOSOMALAC	LYSOSOMAL ACID LIPASE DEFICIENCY	Lysosomal Acid Lipase Deficiency	7901137
3047803504.0	METHYLMALONIC ACIDURIA AND HOMOCYSTINURI	METHYLACID	METHYLMALONIC ACIDURIA AND HOMOCYSTINURI	Methylmalonic Aciduria and Homocystinuri	7901159
3047803634.0	MUCOPOLYSACCHARIDOSIS TYPE IIIB	MUCOPOLYSA3B	MUCOPOLYSACCHARIDOSIS TYPE IIIB	Mucopolysaccharidosis Type IIIB	7901174
3047803986.0	PCCA-RELATED PROPIONIC ACIDEMIA	PCCAPROACI	PCCA RELATED PROPIONIC ACIDEMIA	PCCA-Related Propionic Acidemia	7901170
3047804076.0	PHENYLALANINE HYDROXYLASE DEFICIENCY	PHHYDEF	PHENYLALANINE HYDROXYLASE DEFICIENCY	Phenylalanine Hydroxylase Deficiency	7901064
3047805370.0	ALPHA-MANNOSIDOSIS RESULT	AMANNOSID	ALPHA MANNOSIDOSIS RESULT	Alpha-Mannosidosis	7901005
3047803284.0	LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2D	MUSCDYST2D	LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2D	Limb-Girdle Muscular Dystrophy Type 2D	7901006
3047805482.0	FAMILIAL MEDITERRANEAN FEVER RESULT	FAMMED	FAMILIAL MEDITERRANEAN FEVER	Familial Mediterranean Fever	7901031
3047805145.0	TYROSINEMIA TYPE I	TYROTY1	TYROSINEMIA TYPE I	Tyrosinemia Type I	7901076
3047800948.0	ALPHA THALASSEMIA	ATHALASS	ALPHA THALASSEMIA	Alpha Thalassemia	7901120
3047801964.0	CONGENITAL ADRENAL HYPERPLASIA	CONGADNHY	CONGENITAL ADRENAL HYPERPLASIA	Congenital Adrenal Hyperplasia	7901119
3047805496.0	FRAGILE X SYNDROME RESULT	FRAGILEX	FRAGILE X SYNDROME RESULT	Fragile X Syndrome	7901108
3047801644.0	CARNITINE PALMITOYLTRANSFERASE IA DEFICI	CPTDEF1A	CARNITINE PALMITOYLTRANSFERASE IA DEFICI	Carnitine Palmitoyltransferase IA Defici	7901016
3047805504.0	GAUCHER DISEASE RESULT	GAUCHER	GAUCHER DISEASE RESULT	Gaucher Disease	7901034
3047805431.0	COHEN SYNDROME RESULT	COHENSYN	COHEN SYNDROME RESULT	Cohen Syndrome	7901024
3047802644.0	GNPTAB-RELATED DISORDERS	GNPTABREDIS	GNPTAB RELATED DISORDERS	GNPTAB-Related Disorders	7901162
3047805517.0	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY RESULT	HSD	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY RESULT	Holocarboxylase Synthetase Deficiency	7901147
3047803210.0	LAMA2-RELATED MUSCULAR DYSTROPHY	MUSCDYST	LAMA2 RELATED MUSCULAR DYSTROPHY	LAMA2-Related Muscular Dystrophy	7901150
3047803633.0	MUCOPOLYSACCHARIDOSIS TYPE IIIA	MUCOPOLYSA3A	MUCOPOLYSACCHARIDOSIS TYPE IIIA	Mucopolysaccharidosis Type IIIA	7901122
3047805306.0	X-LINKED MYOTUBULAR MYOPATHY	XLIMYTUBMYO	X LINKED MYOTUBULAR MYOPATHY	X-Linked Myotubular Myopathy	7901197
3047804230.0	PPT1-RELATED NEURONAL CEROID LIPOFUSCINO	PPT1NECELI	PPT1 RELATED NEURONAL CEROID LIPOFUSCINO	PPT1-Related Neuronal Ceroid Lipofuscino	7901066
3047804279.0	PROP1-RELATED COMBINED PITUITARY HORMONE	COPIHODEFPR1	PROP1 RELATED COMBINED PITUITARY HORMONE	PROP1-Related Combined Pituitary Hormone	7901067
3047802000.0	COSTEFF OPTIC ATROPHY SYNDROME	COSTEFFOP	COSTEFF OPTIC ATROPHY SYNDROME	Costeff Optic Atrophy Syndrome	7901097
3047803629.0	MUCOLIPIDOSIS IV	MUCOLIPID	MUCOLIPIDOSIS IV	Mucolipidosis IV	7901057
3047803744.0	NIEMANN-PICK DISEASE, SMPD1-ASSOCIATED	NIEMPICKSMPD	NIEMANN PICK DISEASE, SMPD1	Niemann-Pick Disease, SMPD1-Associated	7901098
3047805656.0	SPINAL MUSCULAR ATROPHY	SMA	SMA, ATROPHY	Spinal Muscular Atrophy	7901089
3047800824.0	ABCC8-RELATED HYPERINSULINISM	ABCC8RHYP	ABCC8 RELATED HYPERINSULINISM	ABCC8-Related Hyperinsulinism	7901000
3047801848.0	CLN5-RELATED NEURONAL CEROID LIPOFUSCINO	CLN5RNCL	CLN5 RELATED NEURONAL CEROID LIPOFUSCINO	CLN5-Related Neuronal Ceroid Lipofuscino	7901022
3047805512.0	HEREDITARY FRUCTOSE INTOLERANCE RESULT	HEREDFRUC	HEREDITARY FRUCTOSE INTOLERANCE RESULT	Hereditary Fructose Intolerance	7901044
3047802896.0	HOMOCYSTINURIA / CYSTATHIONINE BETA-SYNT	HOMOCYSUR	HOMOCYSTINURIA CYSTATHIONINE BETA SYNT	Homocystinuria / Cystathionine Beta-Synt	7901046
3047802632.0	GLYCOGEN STORAGE DISEASE TYPE IB	GLYSTODITYLB	GLYCOGEN STORAGE DISEASE TYPE IB	Glycogen Storage Disease Type Ib	7901038
3047803285.0	LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E	MUSCDYST2E	LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2E	Limb-Girdle Muscular Dystrophy Type 2E	7901012
3047804249.0	PRIMARY CARNITINE DEFICIENCY	PRCADEF	PRIMARY CARNITINE DEFICIENCY	Primary Carnitine Deficiency	7901094
3047805307.0	X-LINKED SEVERE COMBINED IMMUNODEFICIENC	XLISECCOMIMM	X LINKED SEVERE COMBINED IMMUNODEFICIENC	X-Linked Severe Combined Immunodeficienc	7901176
3047805374.0	ALSTROM SYNDROME RESULT	ALSTROM	ALSTROM SYNDROME RESULT	Alstrom Syndrome	7901132
3047801214.0	ATP7A-RELATED DISORDERS	ATP7ARD	ATP7A RELATED DISORDERS	ATP7A-Related Disorders	7901166
3047801914.0	COL4A3-RELATED ALPORT SYNDROME	COLRAS	COL4A3 RELATED ALPORT SYNDROME	COL4A3-Related Alport Syndrome	7901130
3047805473.0	FABRY DISEASE RESULT	FABRY	FABRY DISEASE RESULT	Fabry Disease	7901141
3047802593.0	GLDC-RELATED GLYCINE ENCEPHALOPATHY	GLYENCGLDCRE	GLDC RELATED GLYCINE ENCEPHALOPATHY	GLDC-Related Glycine Encephalopathy	7901145
3047803396.0	MAPLE SYRUP URINE DISEASE TYPE IA	MAPLEUR1A	MAPLE SYRUP URINE DISEASE TYPE IA	Maple Syrup Urine Disease Type Ia	7901156
3047803501.0	METHYLMALONIC ACIDEMIA, CBLB TYPE	MEACCBLBTY	MEACCBLBTY	Methylmalonic Aciduria, cbIB Type	7901158
3047804031.0	PEROXISOME BIOGENESIS DISORDER TYPE 5	PEBIODITY5	PEBIODITY5	Peroxisome Biogenesis Disorder Type 5	7901188
3047805146.0	TYROSINEMIA TYPE II	TYROTY2	TYROSINEMIA TYPE II	Tyrosinemia Type II	7901179
3047805184.0	USH1C-RELATED DISORDERS	USH1CDIS	USH1C RELATED DISORDERS	USH1C-Related Disorders	7901182
3047805296.0	XERODERMA PIGMENTOSUM GROUP C	XEPIGGRPC	XERODERMA PIGMENTOSUM GROUP C	Xeroderma Pigmentosum Group C	7901183
3047805303.0	X-LINKED ALPORT SYNDROME	XLIALSYN	X LINKED ALPORT SYNDROME	X-Linked Alport Syndrome	7901131

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.

Search

Foresight Universal PLUS Carrier with Fragile X Epic Compendium

▶ Desired Epic Build * = editable field

Actual Epic Build 11/20/2025 Save Test to CSV

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 11/20/2025