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Foresight Universal PLUS Carrier with Fragile X

Test Catalog Information

Test Catalog Synonyms
EPIC Synonyms	UCSPFRX Universal PLUS Carrier w/FRX
Cerner Primary Mnemonic	Universal PLUS Carrier w/FRX
EPIC Display Name	Foresight Universal PLUS Carrier with Fragile X
Allscripts (AEHR) Order Name	Universal Carrier Screen Plus with Fragile X
Sunrise Clinical Manager (SCM) Order Name	Foresight TM Carrier Scr with FRX (UCSFR)
EPIC Inpatient Orderable	Yes
EPIC Outpatient Orderable	Yes
Cerner Results	Fanconi anemia type C Primary hyperoxaluria type 2 Sulfate transporter-related osteochondro Cartilage-hair hypoplasia Pendred syndrome Isovaleric acidemia HJE bullosa, LAMB3-related cerebrotendinous xanthomatosis hydrolethalus syndrome mucolipidosis III gamma mucopolysaccharidosis type IIIC MUT-related methylmalonic acidemia peroxisome biogenesis disorder type 3 peroxisome biogenesis disorder type 4 spastic paraplegia type 15 spondylothoracic dysostosis Rhizomelic chondrodysplasia punctata typ Bardet-Biedl syndrome, BBS1-related Polyglandular autoimmune syndrome type 1 Carnitine palmitoyltransferase II defici GJB2-related DFNB1 nonsyndromic hearing Lipoamide dehydrogenase deficiency Metachromatic leukodystrophy Nijmegen breakage syndrome Sjogren-Larsson syndrome TPP1-related neuronal ceroid lipofuscino Biotinidase deficiency Canavan disease ARSACS PEX1-related Zellweger syndrome spectrum adenosine deaminase deficiency argininemia autosomal recessive osteopetrosis type 1 dysferlinopathy dystrophinopathy (including Duchenne/Bec ERCC8-related disorders EVC2-related Ellis-van Creveld syndrome Fanconi anemia complementation group A Leigh syndrome, French-Canadian type maple syrup urine disease type II methylmalonic acidemia, cblA type mucopolysaccharidosis type II pyruvate carboxylase deficiency Krabbe disease Hexosaminidase A deficiency Bardet-Biedl syndrome, BBS10-related Ataxia with vitamin E deficiency Primary hyperoxaluria type 1 Smith-Lemli-Opitz syndrome D-bifunctional protein deficiency 6-pyruvoyl-tetrahydropterin synthase def EVC-related Ellis-van Creveld syndrome FKRP-related disorders GLB1-related disorders HMG-CoA lyase deficiency MYO7A-related disorders Niemann-Pick disease type C2 ornithine transcarbamylase deficiency PCCB-related propionic acidemia peroxisome biogenesis disorder type 6 RTEL1-related disorders Muscle-eye-brain disease GRACILE syndrome Aspartylglycosaminuria Salla disease Maple syrup urine disease type 1B HJE bullosa, LAMC2-related NEB-related nemaline myopathy Bloom syndrome Glycogen storage disease type III Pompe disease Medium chain acyl-CoA dehydrogenase defi argininosuccinic aciduria carbamoylphosphate synthetase I deficien congenital disorder of glycosylation typ gamma-sarcoglycanopathy USH2A-related disorders xeroderma pigmentosum group A X-linked congenital adrenal hypoplasia Walker-Warburg syndrome Cystic fibrosis Northern epilepsy Short chain acyl-CoA dehydrogenase defic Usher syndrome type 3 X-linked juvenile retinoschisis Megalencephalic leukoencephalopathy with Galactosemia congenital disorder of glycosylation lb Glutaric acidemia type 1 Hurler syndrome Wilson disease very long chain acyl-CoA dehydrogenase d HJE bullosa, LAMA3-related Congenital disorder of glycosylation la Inclusion body myopathy 2 11-beta-hydroxylase-deficient congenital Bardet-Biedl syndrome, BBS2-related galactokinase deficiency MKS1-related disorders primary hyperoxaluria type 3 Sandhoff disease TGM1-related autosomal recessive congeni X-linked adrenoleukodystrophy Joubert syndrome 2 Hypophosphatasia, autosomal recessive Hb beta chain-related hemoglobinopathy Glycogen storage disease type Ia Long chain 3-hydroxyacyl-CoA dehydrogena Autosomal recessive polycystic kidney di Ataxia-telangiectasia Congenital finnish nephrosis Pycnodysostosis Usher syndrome type 1F Steroid-resistant nephrotic syndrome Niemann-Pick disease type C Andermann syndrome Cystinosis Citrullinemia type 1 Familial dysautonomia CLN3-related neuronal ceroid lipofuscino Segawa syndrome AMT-related glycine encephalopathy Bardet-Biedl syndrome, BBS12-related calpainopathy CLN6-related neuronal ceroid lipofuscino COL4A4-related Alport syndrome delta-sarcoglycanopathy ERCC6-related disorders KCNJ11-related familial hyperinsulinism lipoid congenital adrenal hyperplasia lysosomal acid lipase deficiency methylmalonic aciduria and homocystinuri mucopolysaccharidosis type IIIB PCCA-related propionic acidemia Phenylalanine hydroxylase deficiency Alpha-mannosidosis Limb-girdle muscular dystrophy type 2D Familial Mediterranean fever Tyrosinemia type I Alpha Thalassemia Congenital Adrenal Hyperplasia Fragile X syndrome Carnitine palmitoyltransferase IA defici Gaucher disease Cohen syndrome GNPTAB-related disorders holocarboxylase synthetase deficiency LAMA2-related muscular dystrophy mucopolysaccharidosis type IIIA X-linked myotubular myopathy PPT1-related neuronal ceroid lipofuscino PROP1-related combined pituitary hormone Costeff optic atrophy syndrome Mucolipidosis IV Niemann-Pick disease, SMPD1-associated Spinal muscular atrophy ABCC8-related hyperinsulinism CLN5-related neuronal ceroid lipofuscino Hereditary fructose intolerance Homocystinuria / Cystathionine beta-synt Glycogen storage disease type Ib Limb-girdle muscular dystrophy type 2E Primary carnitine deficiency X-linked severe combined immunodeficienc Alstrom syndrome ATP7A-related disorders COL4A3-related Alport syndrome Fabry disease GLDC-related glycine encephalopathy maple syrup urine disease type Ia methylmalonic acidemia, cblB type peroxisome biogenesis disorder type 5 tyrosinemia type II USH1C-related disorders xeroderma pigmentosum group C X-linked Alport syndrome
Clinical Info	The test can detect over 176 health conditions that can be passed unknowingly from parent to child plus Fragile X.
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
Specimen Stability
Methodology	Next-generation Sequencing
Days Performed	TAT: 2 Weeks
Performing Laboratory	Myriad Women's Health
CPT	81479, 81405, 81258, 81257, 81404, 81408, 81406, 81250, 81290, 81412 81161, 81400
PDM	1559071

Desired Epic Build Foresight Universal PLUS Carrier with Fragile X

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

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)

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

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

Current Actual EPIC Build as of 10/28/2024

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

Orderable

Performable

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

Op Lab Test Components For Report

Order Questions

["3048500036", "3048500003", "3048500004", "3045300090", "3045300091", "3045300092", "3048500000"]

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", "3048500000"]

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

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
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
3048500000	NH IP PATIENT COMPLETED CONSENT	Patient completed consent?	Yes/No		Yes
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
3048500000	NH IP PATIENT COMPLETED CONSENT	Patient completed consent?	Yes/No		Yes
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)

Component ID	Component Name	Base Name	Common Name	External Name	Cerner Result PDM
3047802417	FANCONI ANEMIA TYPE C	FANCONIANTPC	FANCONI ANEMIA TYPE C		7901032
3047804254	PRIMARY HYPEROXALURIA TYPE 2	PRHYTY2	PRIMARY HYPEROXALURIA TYPE 2		7901048
3047804872	SULFATE TRANSPORTER-RELATED OSTEOCHONDRO	SULTRAOSTEO	SULFATE TRANSPORTER RELATED OSTEOCHONDRO		7901073
3047805417	CARTILAGE-HAIR HYPOPLASIA RESULT	CARTHYPO	CARTILAGE HAIR HYPOPLASIA RESULT		7901018
3047805611	PENDRED SYNDROME RESULT	PENDREDSYN	PENDREDSYN, RESULT		7901062
3047805540	ISOVALERIC ACIDEMIA RESULT	ISOVALERIC	ISOVALERIC ACIDEMIA RESULT		7901049
3047802849	HJE BULLOSA, LAMB3-RELATED	JUEPBULLAMB3	HJE BULLOSA, LAMB3 RELATED		7901086
3047805419	CEREBROTENDINOUS XANTHOMATOSIS RESULT	CERBROTEND	CEREBROTENDINOUS XANTHOMATOSIS RESULT		7901136
3047805521	HYDROLETHALUS SYNDROME RESULT	HYDROSYN	HYDROLETHALUS SYNDROME RESULT		7901149
3047805575	MUCOLIPIDOSIS III GAMMA RESULT	MUCOLIPGAM	MUCOLIPGAM, RESULT		7901163
3047803635	MUCOPOLYSACCHARIDOSIS TYPE IIIC	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS TYPE IIIC		7901175
3047803663	MUT-RELATED METHYLMALONIC ACIDEMIA	METHYLMALAC	MUT RELATED METHYLMALONIC ACIDEMIA		7901161
3047804029	PEROXISOME BIOGENESIS DISORDER TYPE 3	PEBIODISTY3	PEBIODISTY3	Peroxisome Biogenesis Disorder Type 3	7901187
3047804030	PEROXISOME BIOGENESIS DISORDER TYPE 4	PEBIDISTY4	PEBIDISTY4	Peroxisome Biogenesis Disorder Type 4	7901186
3047804790	SPASTIC PARAPLEGIA TYPE 15	SPASPARA15	SPASTIC PARAPLEGIA TYPE 15		7901177
3047805658	SPONDYLOTHORACIC DYSOSTOSIS RESULT	SPONDDYS	SPONDDYS, RESULT		7901178
3047804567	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYP	RHCHPUTY	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYP		7901069
3047805396	BARDET-BIEDL SYNDROME, BBS1-RELATED RESULT	BBS1	BARDET BIEDL SYNDROME, BBS1 RELATED RESULT		7901083
3047804209	POLYGLANDULAR AUTOIMMUNE SYNDROME TYPE 1	POLYGLANDTY1	POLYGLANDULAR AUTOIMMUNE SYNDROME TYPE 1		7901011
3047801646	CARNITINE PALMITOYLTRANSFERASE II DEFICI	CPTDEF	CARNITINE PALMITOYLTRANSFERASE II DEFICI		7901017
3047802591	GJB2-RELATED DFNB1 NONSYNDROMIC HEARING	GJBREDNON	GJB2 RELATED DFNB1 NONSYNDROMIC HEARING		7901035
3047805549	LIPOAMIDE DEHYDROGENASE DEFICIENCY RESULT	LDD	LIPOAMIDE DEHYDROGENASE DEFICIENCY RESULT		7901051
3047803444	METACHROMATIC LEUKODYSTROPHY	METALEUKO	METACHROMATIC LEUKODYSTROPHY		7901056
3047805583	NIJMEGEN BREAKAGE SYNDROME RESULT	NIJMEGEN	NIJMEGEN, RESULT		7901061
3047805648	SJOGREN-LARSSON SYNDROME RESULT	SJOG	SJOG, RESULT		7901071
3047805044	TPP1-RELATED NEURONAL CEROID LIPOFUSCINO	TPP1NEURCER	TPP1 RELATED NEURONAL CEROID LIPOFUSCINO		7901074
3047805403	BIOTINIDASE DEFICIENCY RESULT	BIOTINIDASE	BIOTINIDASE DEFICIENCY RESULT		7901013
3047805413	CANAVAN DISEASE RESULT	CANAVAN	CANAVAN DISEASE RESULT		7901015
3047801179	ARSACS	ARSACS	ARSACS		7901007
3047804037	PEX1-RELATED ZELLWEGER SYNDROME SPECTRUM	NTRAZELLWEGE	PEX1 RELATED ZELLWEGER SYNDROME SPECTRUM		7901081
3047800873	ADENOSINE DEAMINASE DEFICIENCY	ADDEF	ADDEF		7901127
3047801172	ARGININEMIA	ARGININEMIA	ARGININEMIA		7901133
3047801222	AUTOSOMAL RECESSIVE OSTEOPETROSIS TYPE 1	AUTOROT1	AUTOSOMAL RECESSIVE OSTEOPETROSIS TYPE 1		7901168
3047802246	DYSFERLINOPATHY	DYSKERATCON	DYSFERLINOPATHY		7901123
3047802249	DYSTROPHINOPATHY (INCLUDING DUCHENNE/BEC	DYSTRODUCH	DYSTROPHINOPATHY		7901139
3047802336	ERCC8-RELATED DISORDERS	ERCC8	ERCC8 RELATED DISORDERS		7901195
3047802376	EVC2-RELATED ELLIS-VAN CREVELD SYNDROME	EVC2	EVC2 RELATED ELLIS VAN CREVELD SYNDROME		7901191
3047802416	FANCONI ANEMIA COMPLEMENTATION GROUP A	FANCONIANC	FANCONI ANEMIA COMPLEMENTATION GROUP A		7901143
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
3047803500	METHYLMALONIC ACIDEMIA, CBLA TYPE	MEACCBLATY	MEACCBLATY		7901160
3047803632	MUCOPOLYSACCHARIDOSIS TYPE II	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS TYPE II		7901148
3047804392	PYRUVATE CARBOXYLASE DEFICIENCY	PYCARDEF	PYRUVATE CARBOXYLASE DEFICIENCY		7901172
3047805545	KRABBE DISEASE RESULT	KRABBE	KRABBE DISEASE RESULT		7901050
3047802801	HEXOSAMINIDASE A DEFICIENCY	HEXOADEF	HEXOSAMINIDASE A DEFICIENCY		7901099
3047805392	BARDET-BIEDL SYNDROME, BBS10-RELATED RESULT	BBS10	BARDET BIEDL SYNDROME, BBS10 RELATED RESULT		7901084
3047805388	ATAXIA WITH VITAMIN E DEFICIENCY RESULT	ATAXIAVITE	ATAXIA WITH VITAMIN E DEFIENCY RESULT		7901009
3047804253	PRIMARY HYPEROXALURIA TYPE 1	PRHYTY1	PRIMARY HYPEROXALURIA TYPE 1		7901047
3047805650	SMITH-LEMLI-OPITZ SYNDROME RESULT	SLOS	SLOS, RESULT		7901072
3047805458	D-BIFUNCTIONAL PROTEIN DEFICIENCY RESULT	DBIFUNCPROT	D BIFUNCTIONAL PROTEIN DEFICIENCY RESULT		7901063
3047800805	6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEF	6PYRUTETASYD	6 PYRUVOYL TETRAHYDROPTERIN SYNTHASE PTPS DEFICIENCY		7901126
3047802377	EVC-RELATED ELLIS-VAN CREVELD SYNDROME	EVC	EVC RELATED ELLIS VAN CREVELD SYNDROME		7901190
3047802475	FKRP-RELATED DISORDERS	FKRPRTDO	FKRP RELATED DISORDERS		7901121
3047802592	GLB1-RELATED DISORDERS	GLBREDIS	GLB1 RELATED DISORDERS		7901146
3047802887	HMG-COA LYASE DEFICIENCY	HMGCOLYDEF	HMG COA LYASE DEFICIENCY		7901125
3047803687	MYO7A-RELATED DISORDERS	MYO7A	MYO7A RELATED DISORDERS		7901181
3047803743	NIEMANN-PICK DISEASE TYPE C2	NIEMPICKC2	NIEMANN PICK DISEASE, TYPE C2	Niemann-Pick Disease, Type C2	7901165
3047805596	ORNITHINE TRANSCARBAMYLASE DEFICIENCY RESULT	OTD	OTD, RESULT		7901167
3047803987	PCCB-RELATED PROPIONIC ACIDEMIA	PCCBPROACI	PCCB RELATED PROPIONIC ACIDEMIA		7901171
3047804032	PEROXISOME BIOGENESIS DISORDER TYPE 6	PEBIDISTY6	PEBIDISTY6	Peroxisome Biogenesis Disorder Type 6	7901185
3047804605	RTEL1-RELATED DISORDERS	RTEL1RELDIS	RTEL1 RELATED DISORDERS		7901140
3047803655	MUSCLE-EYE-BRAIN DISEASE	MUSEYEDIS	MUSCLE EYE BRAIN DISEASE		7901059
3047805508	GRACILE SYNDROME RESULT	GRACILE	GRACILE SYNDROME RESULT		7901043
3047805386	ASPARTYLGLYCOSAMINURIA RESULT	ASPARTYLGLYO	ASPARTYLGLYCOSAMINURIA RESULT		7901008
3047805642	SALLA DISEASE RESULT	SALLADIS	SALLADIS, RESULT		7901033
3047803395	MAPLE SYRUP URINE DISEASE TYPE 1B	MAPLEUR	MAPLE SYRUP URINE DISEASE TYPE 1B		7901053
3047802850	HJE BULLOSA, LAMC2-RELATED	JUEPIBULAMC2	HJE BULLOSA, LAMC2 RELATED		7901087
3047803707	NEB-RELATED NEMALINE MYOPATHY	NEMALMYO	NEB RELATED NEMALINE MYOPATHY		7901091
3047805406	BLOOM SYNDROME RESULT	BLOOMSYN	BLOOM SYNDROME RESULT		7901014
3047802633	GLYCOGEN STORAGE DISEASE TYPE III	NTRAGSDT3	GLYCOGEN STORAGE DISEASE TYPE III		7901040
3047804211	POMPE DISEASE	POMDIS	POMPE DISEASE		7901039
3047803419	MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFI	ACYLCOA	MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFI		7901054
3047801175	ARGININOSUCCINIC ACIDURIA	ARGINACI	ARGINACI	Argininosuccinic Aciduria	7901198
3047801624	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIEN	CPSDEF	CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIEN		7901189
3047801972	CONGENITAL DISORDER OF GLYCOSYLATION TYP	CONDOGLYCTYP	CONGENITAL DISORDER OF GLYCOSYLATION TYP		7901196
3047802546	GAMMA-SARCOGLYCANOPATHY	GAMSARC	GAMMA SARCOGLYCANOPATHY		7901152
3047805185	USH2A-RELATED DISORDERS	USH2ADIS	USH2A RELATED DISORDERS		7901180
3047805295	XERODERMA PIGMENTOSUM GROUP A	XEPIGGRPA	XERODERMA PIGMENTOSUM GROUP A		7901184
3047805304	X-LINKED CONGENITAL ADRENAL HYPOPLASIA	XLIADHYPCON	X LINKED CONGENITAL ADRENAL HYPOPLASIA		7901193
3047805688	WALKER-WARBURG SYNDROME RESULT	WWSYND	WWSYND, RESULT		7901118
3047805454	CYSTIC FIBROSIS RESULT	CYSTICFIB	CYSTIC FIBROSIS RESULT		7901019
3047803800	NORTHERN EPILEPSY	EPILEPSY	NORTHERN EPILEPSY		7901023
3047804727	SHORT CHAIN ACYL-COA DEHYDROGENASE DEFIC	SHCHACYLCOA	SHORT CHAIN ACYL COA DEHYDROGENASE DEFIC		7901070
3047805686	USHER SYNDROME TYPE 3 RESULT	USHERSYND	USHERSYND, RESULT		7901077
3047805305	X-LINKED JUVENILE RETINOSCHISIS	XLIJUVRET	X LINKED JUVENILE RETINOSCHISIS		7901080
3047803422	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH	MEGLEUKENCE	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH		7901055
3047805502	GALACTOSEMIA RESULT	GALACTOSEMIA	GALACTOSEMIA RESULT		7901082
3047801971	CONGENITAL DISORDER OF GLYCOSYLATION LB	CONDOGLYCLB	CONGENITAL DISORDER OF GLYCOSYLATION LB		7901026
3047802620	GLUTARIC ACIDEMIA TYPE 1	NTRAGLUCOADE	GLUTARIC ACIDEMIA TYPE 1		7901036
3047802960	HURLER SYNDROME	NTRAMUCTYPEI	HURLER SYNDROME		7901058
3047805693	WILSON DISEASE RESULT	WILSONDIS	WILSONDIS, RESULT		7901079
3047805226	VERY LONG CHAIN ACYL-COA DEHYDROGENASE D	VERYLONG	VERY LONG CHAIN ACYL COA DEHYDROGENASE D		7901095
3047802848	HJE BULLOSA, LAMA3-RELATED	JUNEPIBULAM3	HJE BULLOSA, LAMA3 RELATED		7901085
3047801970	CONGENITAL DISORDER OF GLYCOSYLATION LA	CONDOGLYCLA	CONGENITAL DISORDER OF GLYCOSYLATION LA		7901025
3047805525	INCLUSION BODY MYOPATHY 2 RESULT	IBM2	INCLUSION BODY MYOPATHY 2 RESULT		7901042
3047800757	11-BETA-HYDROXYLASE-DEFICIENT CONGENITAL	11BETAHYDECO	11 BETA HYDROXYLASE DEFICIENT CONGENITAL		7901124
3047805398	BARDET-BIEDL SYNDROME, BBS2-RELATED RESULT	BBS2	BARDET BIEDL SYNDROME, BBS2 RELATED RESULT		7901134
3047805500	GALACTOKINASE DEFICIENCY RESULT	GALACTODEF	GALACTOKINASE DEFICIENCY RESULT		7901192
3047803539	MKS1-RELATED DISORDERS	MKS1	MKS1 RELATED DISORDERS		7901157
3047804255	PRIMARY HYPEROXALURIA TYPE 3	PRHYTY3	PRIMARY HYPEROXALURIA TYPE 3		7901169
3047805644	SANDHOFF DISEASE RESULT	SANDHOFF	SANDHOFF, RESULT		7901173
3047804947	TGM1-RELATED AUTOSOMAL RECESSIVE CONGENI	TGM1	TGM1 RELATED AUTOSOMAL RECESSIVE CONGENI		7901151
3047805302	X-LINKED ADRENOLEUKODYSTROPHY	XLIADRENO	X LINKED ADRENOLEUKODYSTROPHY		7901128
3047805542	JOUBERT SYNDROME 2 RESULT	JOUBERTSY2	JOUBERT SYNDROME 2 RESULT		7901092
3047802985	HYPOPHOSPHATASIA, AUTOSOMAL RECESSIVE	HYPOPHOSREC	HYPOPHOSPHATASIA, AUTOSOMAL RECESSIVE		7901088
3047802704	HB BETA CHAIN-RELATED HEMOGLOBINOPATHY	HEMOGBETHB	HB BETA CHAIN RELATED HEMOGLOBINOPATHY		7901100
3047802631	GLYCOGEN STORAGE DISEASE TYPE IA	GLYSTODITYLA	GLYCOGEN STORAGE DISEASE TYPE IA		7901037
3047805551	LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENA RESULT	LONGCHAIN3	LONG CHAIN 3 HYDROXYACYL COA DEHYDROGENA RESULT		7901052
3047801223	AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DI	AUTORPKD	AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DI		7901065
3047805390	ATAXIA-TELANGIECTASIA RESULT	ATAXIATELAN	ATAXIA TELANGIECTASIA RESULT		7901010
3047805440	CONGENITAL FINNISH NEPHROSIS RESULT	CONGFINNISH	CONGENITAL FINNISH NEPHROSIS RESULT		7901027
3047805622	PYCNODYSOSTOSIS RESULT	PYCNODY	PYCNODY, RESULT		7901068
3047805684	USHER SYNDROME TYPE 1F RESULT	USHERSYND	USHERSYND, RESULT		7901078
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
3047805382	ANDERMANN SYNDROME RESULT	ANDERMANN	ANDERMANN SYNDROME RESULT		7901002
3047805456	CYSTINOSIS RESULT	CYSTINOSIS	CYSTINOSIS RESULT		7901028
3047801811	CITRULLINEMIA TYPE 1	CITRULLINEMI	CITRULLINEMIA TYPE 1		7901093
3047805477	FAMILIAL DYSAUTONOMIA RESULT	FAMDYSA	FAMILIAL DYSAUTONOMIA RESULT		7901030
3047801847	CLN3-RELATED NEURONAL CEROID LIPOFUSCINO	CLNRNCL	CLN3 RELATED NEURONAL CEROID LIPOFUSCINO		7901021
3047804681	SEGAWA SYNDROME	SEGSYND	SEGAWA SYNDROME		7901075
3047801034	AMT-RELATED GLYCINE ENCEPHALOPATHY	AMTRGE	AMT RELATED GLYCINE ENCEPHALOPATHY		7901144
3047805394	BARDET-BIEDL SYNDROME, BBS12-RELATED RESULT	BBS12	BARDET BIEDL SYNDROME, BBS12 RELATED RESULT		7901135
3047801603	CALPAINOPATHY	CALPAIN	CALPAINOPATHY		7901153
3047801849	CLN6-RELATED NEURONAL CEROID LIPOFUSCINO	CLNRNCL	CLN6 RELATED NEURONAL CEROID LIPOFUSCINO		7901164
3047801915	COL4A4-RELATED ALPORT SYNDROME	COLRAS	COL4A4 RELATED ALPORT SYNDROME		7901129
3047802118	DELTA-SARCOGLYCANOPATHY	DELTASARCO	DELTA SARCOGLYCANOPATHY		7901154
3047802335	ERCC6-RELATED DISORDERS	ERCC6	ERCC6 RELATED DISORDERS		7901194
3047803182	KCNJ11-RELATED FAMILIAL HYPERINSULINISM	HYPERINSUL	KCNJ11 RELATED FAMILIAL HYPERINSULINISM		7901142
3047803302	LIPOID CONGENITAL ADRENAL HYPERPLASIA	LIPCONADRH	LIPOID CONGENITAL ADRENAL HYPERPLASIA		7901138
3047803364	LYSOSOMAL ACID LIPASE DEFICIENCY	LYSOSOMALAC	LYSOSOMAL ACID LIPASE DEFICIENCY		7901137
3047803504	METHYLMALONIC ACIDURIA AND HOMOCYSTINURI	METHYLACID	METHYLMALONIC ACIDURIA AND HOMOCYSTINURI		7901159
3047803634	MUCOPOLYSACCHARIDOSIS TYPE IIIB	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS TYPE IIIB		7901174
3047803986	PCCA-RELATED PROPIONIC ACIDEMIA	PCCAPROACI	PCCA RELATED PROPIONIC ACIDEMIA		7901170
3047804076	PHENYLALANINE HYDROXYLASE DEFICIENCY	PHHYDEF	PHENYLALANINE HYDROXYLASE DEFICIENCY		7901064
3047805370	ALPHA-MANNOSIDOSIS RESULT	AMANNOSID	ALPHA MANNOSIDOSIS RESULT		7901005
3047803284	LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2D	MUSCDYST2D	LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2D		7901006
3047805482	FAMILIAL MEDITERRANEAN FEVER RESULT	FAMMED	FAMILIAL MEDITERRANEAN FEVER		7901031
3047805145	TYROSINEMIA TYPE I	TYROTY1	TYROSINEMIA TYPE I		7901076
3047800948	ALPHA THALASSEMIA	ATHALASS	ALPHA THALASSEMIA		7901120
3047801964	CONGENITAL ADRENAL HYPERPLASIA	CONGADNHY	CONGENITAL ADRENAL HYPERPLASIA		7901119
3047805496	FRAGILE X SYNDROME RESULT	FRAGILEX	FRAGILE X SYNDROME RESULT		7901108
3047801644	CARNITINE PALMITOYLTRANSFERASE IA DEFICI	CPTDEF	CARNITINE PALMITOYLTRANSFERASE IA DEFICI		7901016
3047805504	GAUCHER DISEASE RESULT	GAUCHER	GAUCHER DISEASE RESULT		7901034
3047805431	COHEN SYNDROME RESULT	COHENSYN	COHEN SYNDROME RESULT		7901024
3047802644	GNPTAB-RELATED DISORDERS	GNPTABREDIS	GNPTAB RELATED DISORDERS		7901162
3047805517	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY RESULT	HSD	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY RESULT		7901147
3047803210	LAMA2-RELATED MUSCULAR DYSTROPHY	MUSCDYST	LAMA2 RELATED MUSCULAR DYSTROPHY		7901150
3047803633	MUCOPOLYSACCHARIDOSIS TYPE IIIA	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS TYPE IIIA		7901122
3047805306	X-LINKED MYOTUBULAR MYOPATHY	XLIMYTUBMYO	X LINKED MYOTUBULAR MYOPATHY		7901197
3047804230	PPT1-RELATED NEURONAL CEROID LIPOFUSCINO	PPT1NECELI	PPT1 RELATED NEURONAL CEROID LIPOFUSCINO		7901066
3047804279	PROP1-RELATED COMBINED PITUITARY HORMONE	COPIHODEFPR1	PROP1 RELATED COMBINED PITUITARY HORMONE		7901067
3047802000	COSTEFF OPTIC ATROPHY SYNDROME	COSTEFFOP	COSTEFF OPTIC ATROPHY SYNDROME		7901097
3047803629	MUCOLIPIDOSIS IV	MUCOLIPID	MUCOLIPIDOSIS IV		7901057
3047803744	NIEMANN-PICK DISEASE, SMPD1-ASSOCIATED	NIEMPICKSMPD	NIEMANN PICK DISEASE, SMPD1	Niemann-Pick Disease, SMPD1-Associated	7901098
3047805656	SPINAL MUSCULAR ATROPHY	SMA	SMA, ATROPHY		7901089
3047800824	ABCC8-RELATED HYPERINSULINISM	ABCC8RHYP	ABCC8 RELATED HYPERINSULINISM		7901000
3047801848	CLN5-RELATED NEURONAL CEROID LIPOFUSCINO	CLNRNCL	CLN5 RELATED NEURONAL CEROID LIPOFUSCINO		7901022
3047805512	HEREDITARY FRUCTOSE INTOLERANCE RESULT	HEREDFRUC	HEREDITARY FRUCTOSE INTOLERANCE RESULT		7901044
3047802896	HOMOCYSTINURIA / CYSTATHIONINE BETA-SYNT	HOMOCYSUR	HOMOCYSTINURIA CYSTATHIONINE BETA SYNT		7901046
3047802632	GLYCOGEN STORAGE DISEASE TYPE IB	GLYSTODITYLB	GLYCOGEN STORAGE DISEASE TYPE IB		7901038
3047803285	LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E	MUSCDYST2E	LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2E		7901012
3047804249	PRIMARY CARNITINE DEFICIENCY	PRCADEF	PRIMARY CARNITINE DEFICIENCY		7901094
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
3047801914	COL4A3-RELATED ALPORT SYNDROME	COLRAS	COL4A3 RELATED ALPORT SYNDROME		7901130
3047805473	FABRY DISEASE RESULT	FABRY	FABRY DISEASE RESULT		7901141
3047802593	GLDC-RELATED GLYCINE ENCEPHALOPATHY	GLYENCGLDCRE	GLDC RELATED GLYCINE ENCEPHALOPATHY		7901145
3047803396	MAPLE SYRUP URINE DISEASE TYPE IA	MAPLEUR	MAPLE SYRUP URINE DISEASE TYPE IA		7901156
3047803501	METHYLMALONIC ACIDEMIA, CBLB TYPE	MEACCBLBTY	MEACCBLBTY		7901158
3047804031	PEROXISOME BIOGENESIS DISORDER TYPE 5	PEBIODITY5	PEBIODITY5	Peroxisome Biogenesis Disorder Type 5	7901188
3047805146	TYROSINEMIA TYPE II	TYROTY2	TYROSINEMIA TYPE II		7901179
3047805184	USH1C-RELATED DISORDERS	USH1CDIS	USH1C RELATED DISORDERS		7901182
3047805296	XERODERMA PIGMENTOSUM GROUP C	XEPIGGRPC	XERODERMA PIGMENTOSUM GROUP C		7901183
3047805303	X-LINKED ALPORT SYNDROME	XLIALSYN	X LINKED ALPORT SYNDROME		7901131

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Foresight Universal PLUS Carrier with Fragile X

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Desired Epic Build Foresight Universal PLUS Carrier with Fragile X

Current Actual EPIC Build as of 10/28/2024

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.