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Horizon 274 Carrier Screen (Pan-Ethnic Panel)

Test Catalog Information

Test Catalog Synonyms
EPIC Synonyms	HCS WOMEN'S HEALTH CARRIER SCREENING NATERA
Cerner Primary Mnemonic	Horizon 274 Carrier Screen
EPIC Display Name	Horizon 274 Carrier Screen (Pan-Ethnic Panel)
Allscripts (AEHR) Order Name	Horizon 274 Carrier Screen
Sunrise Clinical Manager (SCM) Order Name	Horizon 274 Carrier Screen
EPIC Inpatient Orderable	Yes
EPIC Outpatient Orderable	Yes
Cerner Results	CAPN3 COL4A4 MKS1 SLC25A13 SMN1 MUT DCLRE1C RAPSN PEX10 FKTN GLA SLC26A2 CYP11B2 TGM1 RTEL1 AQP2 GLDC CEP290 ETFA HYAL1 SCGC NEB ALPL FH CLN8 ADA FANCG MESP2 DLD GAA BBS2 NDUFAF5 NPC1 MLC1 TMEM216 LIPA ALDOB ATP6V1B1 NAGLU TECPR2 APT7A CLN3 GNPTG TFR2 SGSH SLC7A7 MCCC1 RPGRIP1L DYSF LDLR CPS1 USH1C PYGM BBS1 ABCC8 FOOTNTE REPORTNOTE MPI FAM161A NBN ACAD9 ASNS AMT RAB23 LCA5 SAMHD1 HEXA ETFDH DNAH5 SMPD1 RDH12 POMGNT1 LIFR VPS13B GNS RARS2 SLC39A4 ACADM PEX7 FANCC RMRP EDA DNAI1 HFE2 MYO7A PPT1 SMARCAL1 AGA IDS GNE HLCS CYP19A1 MTHFR NAT CYP17A1 MED17 HOGA1 BLM PAH GPR56 CYP27A1 CBS ACADVL MPL FMR1 ACSF3 SLC12A3 FANCA CDH23 PSAP DHDDS LPL BTD GJB2 SLC12A6 WNT10A PEX1 AIRE FAH GCDH NPC2 HBA1/HBA2 GRHPR LHX3 SLC37A4 MMACHC SLC25A15 CTNS ARSB REPORT SUM RS1 SLC17A5 CPT2 ATM ALG6 NAGS EMD EIF2B5 PEX2 LDLRAP1 CERKL BSND BBS12 TTPA NTRK1 STAR MPV17 CNGB3 CRB1 NR2E3 PHGDH PROP1 SGCA ASPA TRMU PCCB MTRR HYLS1 SEPSECS MTM1 DHCR7 HMGCL NDUFS6 SLC35A3 HGSNAT SLC22A5 PUS1 GALT HEXB USH2A MEFV KCNJ11 LRPPRC OAT CYBA IVD GLB1 HSD3B2 ABCD1 ETHE1 SUMF1 CFTR ATP7B DMD LOXHD1 GLE1 BBS10 ALMS1 CIITA SGCB SLC6A8 GALC CHM BCKDHA ACOX1 ASL HADHA RAG2 HPS1 GBE1 EVC NAT PTS MMAB HBB CPT1A GAMT TCIRG1 GJB1 PMM2 VPS13A AGXT GBA ADAMTS2 OPA3 NDRG1 NPHS1 MCOLN1 MMADHC CLN5 FKRP ARSA TH AGL CTSK VSX2 PANEL NOTES PDHA1 IDUA ASS1 CLN6 PDHB EYS CLRN1 SLC26A4 PFKM TYMP1 F9 ABCB11 ACAT1 RPE65 BCS1L TSFM MMAA TPP1 ATRX GALK1 SACS SLC4A11 PCCA COL7A1 BCKDHB MAN2B1 PEX6 MCCC2 PKHD1 IL2RG F11 AGPS PCDH15 NPHS2 HSD17B4 G6PC IKBKAP CYBB OTC HPS3 PDF NAT ALDH3A2 VPS45 VRK1 GNPTAB HAX1 CHRNE DNAI2 GFM1 COL4A5 MTTP COL4A3 ESCO2 MFSD8
Clinical Info	Horizon provides comprehensive screening using the latest technology, including next-generation sequencing. Horizon screens for genes associated with specific inherited genetic conditions. 274 genes and variants are tested
Specimen Type	Blood
Container	Lavender Top Tube
Collection Instructions	Container/Tube: Lavender (EDTA) Top Tube Specimen: 4 mL whole blood (3 mL min) Ask at order entry questors required: Patient Ethnicity Patient Pregnant Y/N)
Transport Instructions
Specimen Stability	14 Days Room Temperature
Methodology	Next Generation sequencing
Days Performed
Performing Laboratory	Natera, Inc.
CPT	81220 81222 81443 81243 81329 81257
PDM	225281

Desired Epic Build Horizon 274 Carrier Screen (Pan-Ethnic Panel)

Cerner Primary Mnemonic:

Horizon 274 Carrier Screen

PDM

225281

Informatics - Workgroup

Molecular-send outs

Synonyms *

HCS
WOMEN'S HEALTH
CARRIER SCREENING
NATERA

Display Name *

Horizon 274 Carrier Screen (Pan-Ethnic Panel)

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)

Horizon provides comprehensive screening using the latest technology, including next-generation sequencing. Horizon screens for genes associated with specific inherited genetic conditions. 274 genes and variants are tested

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
CAPN3	CAPN3	225281EW
COL4A4	COL4A4	225281S
MKS1	MKS1	225281FJ
SLC25A13	SLC25A13	225281BE
SMN1	SMN1	225281IS
MUT	MUT	225281FS
DCLRE1C	DCLRE1C	225281IP
RAPSN	RAPSN	225281BT
PEX10	PEX10	225281JN
FKTN	FKTN	225281JF
GLA	GLA	225281CN
SLC26A2	SLC26A2	225281H
CYP11B2	CYP11B2	225281BX
TGM1	TGM1	225281EO
RTEL1	RTEL1	225281CG
AQP2	AQP2	225281CV
GLDC	GLDC	225281DJ
CEP290	CEP290	225281EQ
ETFA	ETFA	225281DF
HYAL1	HYAL1	225281GJ
SCGC	SCGC	225281EY
NEB	NEB	225281GP
ALPL	ALPL	225281EH
FH	FH	225281DA
CLN8	CLN8	225281GS
ADA	ADA	225281IO
FANCG	FANCG	225281CY
MESP2	MESP2	225281IT
DLD	DLD	225281FC
GAA	GAA	225281DM
BBS2	BBS2	225281AF
NDUFAF5	NDUFAF5	225281FU
NPC1	NPC1	225281GX
MLC1	MLC1	225281FL
TMEM216	TMEM216	225281EL
LIPA	LIPA	225281JH
ALDOB	ALDOB	225281DV
ATP6V1B1	ATP6V1B1	225281IB
NAGLU	NAGLU	225281GE
TECPR2	TECPR2	225281DW
APT7A	APT7A	225281HB
CLN3	CLN3	225281AK
GNPTG	GNPTG	225281FZ
TFR2	TFR2	225281DU
SGSH	SGSH	225281GD
SLC7A7	SLC7A7	225281FG
MCCC1	MCCC1	225281C
RPGRIP1L	RPGRIP1L	225281BD
DYSF	DYSF	225281EX
LDLR	LDLR	225281CR
CPS1	CPS1	225281AQ
USH1C	USH1C	225281IZ
PYGM	PYGM	225281DP
BBS1	BBS1	225281AE
ABCC8	ABCC8	225281CT
FOOTNTE	FOOTNTE	225043D
REPORTNOTE	REPORTNOTE	225043C
MPI	MPI	225281BO
FAM161A	FAM161A	225281IE
NBN	NBN	225281GZ
ACAD9	ACAD9	225281II
ASNS	ASNS	225281Y
AMT	AMT	225281DI
RAB23	RAB23	225281AU
LCA5	LCA5	225281ER
SAMHD1	SAMHD1	225281N
HEXA	HEXA	225281IW
ETFDH	ETFDH	225281DG
DNAH5	DNAH5	225281HO
SMPD1	SMPD1	225281GW
RDH12	RDH12	225281ES
POMGNT1	POMGNT1	225281GL
LIFR	LIFR	225281IV
VPS13B	VPS13B	225281BG
GNS	GNS	225281GG
RARS2	RARS2	225281HN
SLC39A4	SLC39A4	225281J
ACADM	ACADM	225281FK
PEX7	PEX7	225281IG
FANCC	FANCC	225281CX
RMRP	RMRP	225281AV
EDA	EDA	225281EG
DNAI1	DNAI1	225281HP
HFE2	HFE2	225281DT
MYO7A	MYO7A	225281IY
PPT1	PPT1	225281GU
SMARCAL1	SMARCAL1	225281IM
AGA	AGA	225281Z
IDS	IDS	225281GC
GNE	GNE	225281EI
HLCS	HLCS	225281DZ
CYP19A1	CYP19A1	225281X
MTHFR NAT	MTHFR NAT	225281EB
CYP17A1	CYP17A1	225281BL
MED17	MED17	225281EJ
HOGA1	HOGA1	225281HT
BLM	BLM	225281AO
PAH	PAH	225281HI
GPR56	GPR56	225281AM
CYP27A1	CYP27A1	225281AW
CBS	CBS	225281EA
ACADVL	ACADVL	225281JE
MPL	MPL	225281BM
FMR1	FMR1	225281CZ
ACSF3	ACSF3	225281BH
SLC12A3	SLC12A3	225281DE
FANCA	FANCA	225281CW
CDH23	CDH23	225281JA
PSAP	PSAP	225281FN
DHDDS	DHDDS	225281IF
LPL	LPL	225281FE
BTD	BTD	225281AN
GJB2	GJB2	225281HA
SLC12A6	SLC12A6	225281V
WNT10A	WNT10A	225281HC
PEX1	PEX1	225281JK
AIRE	AIRE	225281HL
FAH	FAH	225281IX
GCDH	GCDH	225281DH
NPC2	NPC2	225281GY
HBA1/HBA2	HBA1/HBA2	225281P
GRHPR	GRHPR	225281HS
LHX3	LHX3	225281HJ
SLC37A4	SLC37A4	225281DL
MMACHC	MMACHC	225281FO
SLC25A15	SLC25A15	225281EF
CTNS	CTNS	225281CC
ARSB	ARSB	225281GI
REPORT SUM	REPORT SUM	225043A
RS1	RS1	225281JI
SLC17A5	SLC17A5	225281IK
CPT2	CPT2	225281AT
ATM	ATM	225281AB
ALG6	ALG6	225281BP
NAGS	NAGS	225281GO
EMD	EMD	225281CK
EIF2B5	EIF2B5	225281EV
PEX2	PEX2	225281JL
LDLRAP1	LDLRAP1	225281CS
CERKL	CERKL	225281ID
BSND	BSND	225281AJ
BBS12	BBS12	225281AH
TTPA	TTPA	225281AA
NTRK1	NTRK1	225281BR
STAR	STAR	225281FD
MPV17	MPV17	225281FW
CNGB3	CNGB3	225281I
CRB1	CRB1	225281BZ
NR2E3	NR2E3	225281CL
PHGDH	PHGDH	225281E
PROP1	PROP1	225281BK
SGCA	SGCA	225281EZ
ASPA	ASPA	225281AP
TRMU	TRMU	225281K
PCCB	PCCB	225281HX
MTRR	MTRR	225281EC
HYLS1	HYLS1	225281ED
SEPSECS	SEPSECS	225281HU
MTM1	MTM1	225281GN
DHCR7	DHCR7	225281IR
HMGCL	HMGCL	225281B
NDUFS6	NDUFS6	225281FV
SLC35A3	SLC35A3	225281AC
HGSNAT	HGSNAT	225281GF
SLC22A5	SLC22A5	225281AR
PUS1	PUS1	225281FX
GALT	GALT	225281DC
HEXB	HEXB	225281IL
USH2A	USH2A	225281JC
MEFV	MEFV	225281CU
KCNJ11	KCNJ11	225281EE
LRPPRC	LRPPRC	225281ET
OAT	OAT	225281HE
CYBA	CYBA	225281BB
IVD	IVD	225281EK
GLB1	GLB1	225281GH
HSD3B2	HSD3B2	225281A
ABCD1	ABCD1	225281M
ETHE1	ETHE1	225281CM
SUMF1	SUMF1	225281GK
CFTR	CFTR	225281CB
ATP7B	ATP7B	225281JG
DMD	DMD	225281CF
LOXHD1	LOXHD1	225281CE
GLE1	GLE1	225281EU
BBS10	BBS10	225281AG
ALMS1	ALMS1	225281U
CIITA	CIITA	225281AI
SGCB	SGCB	225281FA
SLC6A8	SLC6A8	225281CA
GALC	GALC	225281EN
CHM	CHM	225281BA
BCKDHA	BCKDHA	225281FH
ACOX1	ACOX1	225281L
ASL	ASL	225281W
HADHA	HADHA	225281FF
RAG2	RAG2	225281HD
HPS1	HPS1	225281DX
GBE1	GBE1	225281DO
EVC NAT	EVC NAT	225281CJ
PTS	PTS	225281F
MMAB	MMAB	225281FR
HBB	HBB	225281AL
CPT1A	CPT1A	225281AS
GAMT	GAMT	225281DS
TCIRG1	TCIRG1	225281HG
GJB1	GJB1	225281AX
PMM2	PMM2	225281BN
VPS13A	VPS13A	225281AZ
AGXT	AGXT	225281HR
GBA	GBA	225281DD
ADAMTS2	ADAMTS2	225281CI
OPA3	OPA3	225281BY
NDRG1	NDRG1	225281AY
NPHS1	NPHS1	225281BQ
MCOLN1	MCOLN1	225281GA
MMADHC	MMADHC	225281FP
CLN5	CLN5	225281GQ
FKRP	FKRP	225281FB
ARSA	ARSA	225281FM
TH	TH	225281IN
AGL	AGL	225281DN
CTSK	CTSK	225281HY
VSX2	VSX2	225281FT
PANEL NOTES	PANEL NOTES	225043B
PDHA1	PDHA1	225281IA
IDUA	IDUA	225281GB
ASS1	ASS1	225281BF
CLN6	CLN6	225281GR
PDHB	PDHB	225281HZ
EYS	EYS	225281IC
CLRN1	CLRN1	225281JD
SLC26A4	SLC26A4	225281HH
PFKM	PFKM	225281DQ
TYMP1	TYMP1	225281GM
F9	F9	225281CO
ABCB11	ABCB11	225281HV
ACAT1	ACAT1	225281EM
RPE65	RPE65	225281EP
BCS1L	BCS1L	225281DR
TSFM	TSFM	225281BI
MMAA	MMAA	225281FQ
TPP1	TPP1	225281GV
ATRX	ATRX	225281Q
GALK1	GALK1	225281DB
SACS	SACS	225281AD
SLC4A11	SLC4A11	225281BW
PCCA	PCCA	225281HW
COL7A1	COL7A1	225281CH
BCKDHB	BCKDHB	225281FI
MAN2B1	MAN2B1	225281O
PEX6	PEX6	225281JM
MCCC2	MCCC2	225281D
PKHD1	PKHD1	225281HK
IL2RG	IL2RG	225281JJ
F11	F11	225281CP
AGPS	AGPS	225281IH
PCDH15	PCDH15	225281JB
NPHS2	NPHS2	225281IU
HSD17B4	HSD17B4	225281CD
G6PC	G6PC	225281DK
IKBKAP	IKBKAP	225281CQ
CYBB	CYBB	225281BC
OTC	OTC	225281HF
HPS3	HPS3	225281DY
PDF NAT	PDF NAT	225043E
ALDH3A2	ALDH3A2	225281IQ
VPS45	VPS45	225281BV
VRK1	VRK1	225281HM
GNPTAB	GNPTAB	225281FY
HAX1	HAX1	225281BU
CHRNE	CHRNE	225281BS
DNAI2	DNAI2	225281HQ
GFM1	GFM1	225281BJ
COL4A5	COL4A5	225281T
MTTP	MTTP	225281G
COL4A3	COL4A3	225281R
ESCO2	ESCO2	225281IJ
MFSD8	MFSD8	225281GT

Current Actual EPIC Build as of 10/28/2024

Procedure Id

172953

Pdm

225281

Order Display Name

Horizon 274 Carrier Screen (Pan-Ethnic Panel)

Procedure Name

HORIZON 274 (PAN-ETHNIC EXTENDED)

Procedure Master Number

LAB10144

Short Procedure Name

HORIZON 274 (PAN-ETHNIC EXTENDED)

Category Code

21.0

Category Code Record Name

LAB MOLECULAR DIAGNOSTICS ORDERABLES

Synonyms

HCS WOMEN'S HEALTH CARRIER SCREENING NATERA

Clinically Active

Yes

Orderable

Yes

Performable

Yes

Filter Genomics

Generic Genomics Procedure

Reference Link Url

https://labs.northwell.edu/epic/test/172953

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

["3045300105", "3048500036", "3045300061", "3045300062"]

Order Questions Record Name

NH IP CONSENT ORDER COMMENT NH IP ETHNICITY CUSTOM LIST NH IP PAN ETHNIC ACKNOWLEDGEMENT NH IP PATIENT PREGNANT

Inpatient Order Questions

["3045300105", "3048500036", "3045300061", "3045300062"]

Inpatient Order Questions Record Name

NH IP CONSENT ORDER COMMENT NH IP ETHNICITY CUSTOM LIST NH IP PAN ETHNIC ACKNOWLEDGEMENT NH IP PATIENT PREGNANT

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

EPIC OP AOEs

Question ID	Question Name	Question	Response Type	Require Response
3045300061	NH IP PAN ETHNIC ACKNOWLEDGEMENT	H14 Pan-Ethnic Acknowledgement	Yes/No	No
3045300062	NH IP PATIENT PREGNANT	Patient Pregnant	Yes/No	No
3045300105	NH IP CONSENT ORDER COMMENT	Consent Order Comment	Free Text	Yes
3048500036	NH IP ETHNICITY CUSTOM LIST

EPIC IP AOEs

Question ID	Question Name	Question	Response Type	Require Response
3045300061	NH IP PAN ETHNIC ACKNOWLEDGEMENT	H14 Pan-Ethnic Acknowledgement	Yes/No	No
3045300062	NH IP PATIENT PREGNANT	Patient Pregnant	Yes/No	No
3045300105	NH IP CONSENT ORDER COMMENT	Consent Order Comment	Free Text	Yes
3048500036	NH IP ETHNICITY CUSTOM LIST

EPIC Components (results)

Component ID	Component Name	Base Name	Common Name	External Name	Cerner Result PDM
3047803286	LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A	MUSCDYST2A	LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2A		225281EW
3047800963	ALPORT SYNDROME, COL4A4-RELATED	ALPORTSY	ALPORT SYNDROME, COL4A4 RELATED		225281S
3047803417	MECKEL-GRUBER SYNDROME, TYPE 1	MECGRUB	MECKEL GRUBER SYNDROME, TYPE 1		225281FJ
3047801808	CITRIN DEFICIENCY	CITRINDEF	CITRIN DEFICIENCY		225281BE
3047805657	HORIZON 274 CARRIER SCREEN SPINAL MUSCULAR ATROPHY	SMA	SMA, ATROPHY		225281IS
3047803507	METHYLMALONIC ACIDURIA, TYPE MUT(0)	METHYLACID	METHYLMALONIC ACIDURIA, TYPE MUT 0		225281FS
3047804716	SEVERE COMBINED IMMUNODEFICIENCY, TYPE A	SEVIMMTYA	SEVERE COMBINED IMMUNODEFICIENCY, TYPE A		225281IP
3047801976	CONGENITAL MYASTHENIC SYNDROME, RAPSN-RE	CONMYASYNRA	CONGENITAL MYASTHENIC SYNDROME, RAPSN RE		225281BT
3047805328	ZELLWEGER SPECTRUM DISORDERS, PEX10-RELA	ZELLWEGE	ZELLWEGER SPECTRUM DISORDERS, PEX10 RELA		225281JN
3047805689	WALKER-WARBURG SYNDROME	WWSYND	WWSYND, SYNDROME		225281JF
3047805474	FABRY DISEASE	FABRY	FABRY DISEASE		225281CN
3047800846	ACHONDROGENESIS, TYPE 1B	ACHONDROG1B	ACHONDROGENESIS, TYPE 1B		225281H
3047801993	CORTICOSTERONE METHYLOXIDASE DEFICIENCY	CORTMETHDEF	CORTICOSTERONE METHYLOXIDASE DEFICIENCY		225281BX
3047803212	LAMELLAR ICHTHYOSIS, TYPE 1	LAMELLAR	LAMELLAR ICHTHYOSIS, TYPE 1		225281EO
3047802247	DYSKERATOSIS CONGENITA	DYSKERCONG	DYSKERATOSIS CONGENITA		225281CG
3047802414	FAMILIAL NEUROPOPHYSEAL DIABETES INSIPID	NEURDIAINFAM	FAMILIAL NEUROPOPHYSEAL DIABETES INSIPID		225281CV
3047802630	GLYCINE ENCEPHALOPATHY, GLDC-REL	GLYENCGLDCRE	GLYCINE ENCEPHALOPATHY, GLDC REL		225281DJ
3047803247	LEBER CONGENITAL AMAUROSIS, TYPE CEP290	LECEP290	LEBER CONGENITAL AMAUROSIS, TYPE CEP290		225281EQ
3047802622	GLUTARIC ACIDEMIA, TYPE 2A	NTRAGLUTYP2A	GLUTARIC ACIDEMIA, TYPE 2A		225281DF
3047803643	MUCOPOLYSACCHARIDOSIS, TYPE IX	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE IX		225281GJ
3047803288	LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2C	MUSCDYST2C	LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2C		225281EY
3047805581	NEMALINE MYOPATHY	NEMALINEMYO	NEMALINEMYO, MYOPATHY		225281GP
3047802984	HYPOPHOSPHATASIA, ALPL-RELATED	HYPOPHOSALPL	HYPOPHOSPHATASIA, ALPL RELATED		225281EH
3047802527	FUMARASE DEFICIENCY	FUMARASEDEF	FUMARASE DEFICIENCY		225281DA
3047803731	NEURONAL CEROID LIPOFUSCINOSIS, CLN8	NEURONCERLIP	NEURONAL CEROID LIPOFUSCINOSIS, CLN8		225281GS
3047804715	SEVERE COMBINED IMMUNODEFICIENCY ADA-REL	SEVIMMAD	SEVERE COMBINED IMMUNODEFICIENCY ADA REL		225281IO
3047802420	FANCONI ANEMIA, GROUP G	FANCONIANGRG	FANCONI ANEMIA, GROUP G		225281CY
3047805659	SPONDYLOTHORACIC DYSOSTOSIS	SPONDDYS	SPONDDYS, DYSOSTOSIS		225281IT
3047805550	LIPOAMIDE DEHYDROGENASE DEFICIENCY	LDD	LIPOAMIDE DEHYDROGENASE DEFICIENCY		225281FC
3047802637	GLYCOGEN STORAGE DISEASE, TYPE 2	NTRAGSDT2	GLYCOGEN STORAGE DISEASE, TYPE 2		225281DM
3047805399	BARDET-BIEDL SYNDROME, BBS2-RELATED	BBS2	BARDET BIEDL SYNDROME, BBS2 RELATED		225281AF
3047803535	MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5	MITOCHONCOM	MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5		225281FU
3047803745	NIEMANN-PICK DISEASE, TYPE C1/D	NIEMPICKC1D	NIEMANN PICK DISEASE, TYPE C1 D	Niemann-Pick Disease, Type C1/D	225281GX
3047803421	MEGALENCEPHALIC LEUKOENCEPHALOPATHY	MEGLEUKENCE	MEGALENCEPHALIC LEUKOENCEPHALOPATHY		225281FL
3047805543	JOUBERT SYNDROME 2	JOUBERTSY2	JOUBERT SYNDROME 2		225281EL
3047805290	WOLMAN DISEASE	WOLDIS	WOLMAN DISEASE		225281JH
3047805513	HEREDITARY FRUCTOSE INTOLERANCE	HEREDFRUC	HEREDITARY FRUCTOSE INTOLERANCE		225281DV
3047804530	RENAL TUBULAR ACIDOSIS AND DEAFNESS	RENTUAC	RENAL TUBULAR ACIDOSIS AND DEAFNESS		225281IB
3047803639	MUCOPOLYSACCHARIDOSIS, TYPE IIIB	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE IIIB		225281GE
3047802774	HEREDITARY SPASTIC PARAPARESIS, TYPE 49	NTRAHSPT49	HEREDITARY SPASTIC PARAPARESIS, TYPE 49		225281DW
3047803427	MENKES SYNDROME	MENKES	MENKES SYNDROME		225281HB
3047801318	BATTEN DISEASE	BATTEN	BATTEN DISEASE		225281AK
3047805576	MUCOLIPIDOSIS III GAMMA	MUCOLIPGAM	MUCOLIPGAM, GAMMA		225281FZ
3047802741	HEMOCHROMATOSIS, TYPE 3, TFR2-RELATED	NTRAHEMT3	HEMOCHROMATOSIS, TYPE 3, TFR2 RELATED		225281DU
3047803638	MUCOPOLYSACCHARIDOSIS, TYPE IIIA	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE IIIA		225281GD
3047803362	LYSINURIC PROTEIN INTOLERANCE	LYSINURIC	LYSINURIC PROTEIN INTOLERANCE		225281FG
3047800784	3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFIC	3METHCOACAR1	3 METHYLCROTONYL COA CARBOXYLASE 1 DEFICIENCY		225281C
3047801800	CILIOPATHIES, RPGRIP1L-RELATED	CILLOPATH	CILIOPATHIES, RPGRIP1L RELATED		225281BD
3047803287	LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B	MUSCDYST2B	LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2B		225281EX
3047802411	FAMILIAL HYPERCHOLESTEROLEMIA, LDLR	HYPCHFALDLR	FAMILIAL HYPERCHOLESTEROLEMIA, LDLR		225281CR
3047801623	CARBAMOYL PHOSPHATE SYNTHETASE I DEF	CPSDEF	CARBAMOYL PHOSPHATE SYNTHETASE I DEF		225281AQ
3047805187	USHER SYNDROME, TYPE 1C	USHT1C	USHER SYNDROME, TYPE 1C		225281IZ
3047802640	GLYCOGEN STORAGE DISEASE, TYPE 5	NTRAGSDT5	GLYCOGEN STORAGE DISEASE, TYPE 5		225281DP
3047805397	BARDET-BIEDL SYNDROME, BBS1-RELATED	BBS1	BARDET BIEDL SYNDROME, BBS1 RELATED		225281AE
3047805481	HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM	FAMHYPER	HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM		225281CT
3047805495	NATERA FOOTNOTES	FOOTNOTES	NATERA FOOTNOTES		225043D
3047805629	REPORT NOTES	REPORTNOTE	REPORTNOTE, NOTES		225043C
3047801968	CONGENITAL DISORDER OF GLYCOSYLATION 1B	CONDOGLYC1B	CONGENITAL DISORDER OF GLYCOSYLATION 1B		225281BO
3047804558	RETINITIS PIGMENTOSA 28	RETPIG28	RETINITIS PIGMENTOSA 28		225281IE
3047805584	NIJMEGEN BREAKAGE SYNDROME	NIJMEGEN	NIJMEGEN, SYNDROME		225281GZ
3047803534	MITOCHONDRIAL COMPLEX 1 DEFIC ACAD9	MITOCHCOM	MITOCHONDRIAL COMPLEX 1 DEFIC ACAD9		225281II
3047801196	ASPARAGINE SYNTHETASE DEFICIENCY	ASPARAGINESD	ASPARAGINE SYNTHETASE DEFICIENCY		225281Y
3047802629	GLYCINE ENCEPHALOPATHY, AMT-RELATED	GLYENCEAMTRE	GLYCINE ENCEPHALOPATHY, AMT RELATED		225281DI
3047801651	CARPENTER SYNDROME	CARPENTERSYN	CARPENTER SYNDROME		225281AU
3047803248	LEBER CONGENITAL AMAUROSIS, TYPE LCA5	LELCA5	LEBER CONGENITAL AMAUROSIS, TYPE LCA5		225281ER
3047800900	AICARDI-GOUTIÃˆRES SYNDROME	AICGOUTSYN	NTRA AICARDI GOUTIÃˆRES SYNDROME		225281N
3047804913	TAY-SACHS DISEASE	TAYSACHSDIS	TAY SACHS DISEASE		225281IW
3047802623	GLUTARIC ACIDEMIA, TYPE 2C	NTRAGLUTYP2C	GLUTARIC ACIDEMIA, TYPE 2C		225281DG
3047804250	PRIMARY CILIARY DYSKINESIA DNAH5-RELATED	PCDDNAH5	PRIMARY CILIARY DYSKINESIA, DNAH5 RELATED	Primary Ciliary Dyskinesia, DNAH5-Related	225281HO
3047803747	NIEMANN-PICK DISEASE, TYPES A/B	NIEMPICKAB	NIEMANN PICK DISEASE, TYPES A B	Niemann-Pick Disease, Types A/B	225281GW
3047803249	LEBER CONGENITAL AMAUROSIS, TYPE RDH12	LERDH12	LEBER CONGENITAL AMAUROSIS, TYPE RDH12		225281ES
3047803656	MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATE	MUSEYEDIS	MUSCLE EYE BRAIN DISEASE, POMGNT1 RELATE		225281GL
3047804868	STUVE-WIEDEMANN SYNDROME	STUVEWIE	STUVE WIEDEMANN SYNDROME		225281IV
3047805432	COHEN SYNDROME	COHENSYN	COHEN SYNDROME		225281BG
3047803641	MUCOPOLYSACCHARIDOSIS, TYPE IIID	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE IIID		225281GG
3047804212	PONTOCEREBELLAR HYPOPLASIA, RARS2-RELATE	PONRARS2	PONTOCEREBELLAR HYPOPLASIA, RARS2 RELATE		225281HN
3047800849	ACRODERMATITIS ENTEROPATHICA	ACRODERMENTE	ACRODERMATITIS ENTEROPATHICA		225281J
3047803418	MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEF	ACYLCOA	MEDIUM CHAIN ACYL COA DEHYDROGENASE DEF		225281FK
3047804565	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1	RHCHPUTY1	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1		225281IG
3047802419	FANCONI ANEMIA, GROUP C	FANCONIANGRC	FANCONI ANEMIA, GROUP C		225281CX
3047805418	CARTILAGE-HAIR HYPOPLASIA	CARTHYPO	CARTILAGE HAIR HYPOPLASIA		225281AV
3047802983	HYPOHIDROTIC ECTODERMAL DYSPLASIA X-LINK	HYPOHIDR	HYPOHIDROTIC ECTODERMAL DYSPLASIA X LINK		225281EG
3047804251	PRIMARY CILIARY DYSKINESIA DNAI1-RELATED	PCDDNAI1	PRIMARY CILIARY DYSKINESIA, DNAI1 RELATED	Primary Ciliary Dyskinesia, DNAI1-Related	225281HP
3047802740	HEMOCHROMATOSIS, TYPE 2A	NTRAHEMT2A	HEMOCHROMATOSIS, TYPE 2A		225281DT
3047805186	USHER SYNDROME, TYPE 1B	USHT1B	USHER SYNDROME, TYPE 1B		225281IY
3047803733	NEURONAL CEROID LIPOFUSCINOSIS, PPT1-REL	NEURONCERLIP	NEURONAL CEROID LIPOFUSCINOSIS, PPT1 REL		225281GU
3047804667	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	SCHIMMDYSP	SCHIMKE IMMUNOOSSEOUS DYSPLASIA		225281IM
3047805387	ASPARTYLGLYCOSAMINURIA	ASPARTYLGLYO	ASPARTYLGLYCOSAMINURIA		225281Z
3047803637	MUCOPOLYSACCHARIDOSIS, TYPE II	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE II		225281GC
3047805526	INCLUSION BODY MYOPATHY 2	IBM2	INCLUSION BODY MYOPATHY 2		225281EI
3047805518	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY	HSD	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY		225281DZ
3047801177	AROMATASE DEFICIENCY	AROMADEF	AROMATASE DEFICIENCY		225281X
3047802897	HOMOCYSTINURIA DUE TO DEFIC OF MTHFR	HOMOCYSURD	HOMOCYSTINURIA DUE TO DEFIC OF MTHFR		225281EB
3047801965	CONGENITAL ADRENAL HYPERPLASIA, 17-ALPHA	CONGADNHY17A	CONGENITAL ADRENAL HYPERPLASIA, 17 ALPHA		225281BL
3047803051	INFANTILE CEREBRAL AND CEREBELLAR ATROPH	CEREBRAL	INFANTILE CEREBRAL AND CEREBELLAR ATROPH		225281EJ
3047804258	PRIMARY HYPEROXALURIA, TYPE 3	PRHYTY3	PRIMARY HYPEROXALURIA, TYPE 3		225281HT
3047805407	HORIZON 274 CARRIER SCREEN BLOOM SYNDROME	HORBLOOMSYN	HORIZON 274 CARRIER SCREEN BLOOM SYNDROME		225281AO
3047804077	PHENYLKETONURIA	PHENYLKE	PHENYLKETONURIA		225281HI
3047801382	BILATERAL FRONTOPARIETAL POLYMICROGYRIA	BILATFRONT	BILATERAL FRONTOPARIETAL POLYMICROGYRIA		225281AM
3047805420	CEREBROTENDINOUS XANTHOMATOSIS	CERBROTEND	CEREBROTENDINOUS XANTHOMATOSIS		225281AW
3047802898	HOMOCYSTINURIA, CBS-RELATED	HOMOCBSRE	HOMOCYSTINURIA, CBS RELATED		225281EA
3047805225	VERY LONG CHAIN ACYL-COA DEHYDROGENASE	VERYLONG	VERY LONG CHAIN ACYL COA DEHYDROGENASE		225281JE
3047801966	CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE	CONGAMETRHO	CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE		225281BM
3047805497	FRAGILE X SYNDROME	FRAGILEX	FRAGILE X SYNDROME		225281CZ
3047801931	COMBINED MALONIC AND METHYLMALONIC ACIDU	CMMA	COMBINED MALONIC AND METHYLMALONIC ACIDU		225281BH
3047802590	GITELMAN SYNDROME	NTRAGITELSYN	GITELMAN SYNDROME		225281DE
3047802418	FANCONI ANEMIA, GROUP A	FANCONIANGRA	FANCONI ANEMIA, GROUP A		225281CW
3047805188	USHER SYNDROME, TYPE 1D	USHT1D	USHER SYNDROME, TYPE 1D		225281JA
3047803446	METACHROMATIC LEUKODYSTROPHY, PSAP	METALEUKO	METACHROMATIC LEUKODYSTROPHY, PSAP		225281FN
3047804559	RETINITIS PIGMENTOSA 59	RETPIG59	RETINITIS PIGMENTOSA 59		225281IF
3047803305	LIPOPROTEIN LIPASE DEFICIENCY	LIPOPROT	LIPOPROTEIN LIPASE DEFICIENCY		225281FE
3047805404	BIOTINIDASE DEFICIENCY	BIOTINIDASE	BIOTINIDASE DEFICIENCY		225281AN
3047803765	NON-SYNDROMIC HEARING LOSS, GJB2-RELATED	NONSYNDRHL	NON SYNDROMIC HEARING LOSS, GJB2 RELATED		225281HA
3047805383	ANDERMANN SYNDROME	ANDERMANN	ANDERMANN SYNDROME		225281V
3047803848	ODONTO-ONYCHO-DERMAL DYSPLASIA	ONONDERDYS	ODONTO ONYCHO DERMAL DYSPLASIA		225281HC
3047805329	ZELLWEGER SPECTRUM DISORDERS, PEX1-RELAT	ZELLWEGE	ZELLWEGER SPECTRUM DISORDERS, PEX1 RELAT		225281JK
3047801220	AUTOIMMUNE POLYGLANDULAR SYNDROME	AUTOPOLYSYN	AUTOIMMUNE POLYGLANDULAR SYNDROME		225281HL
3047805148	TYROSINEMIA, TYPE I	TYROTY1	TYROSINEMIA, TYPE I		225281IX
3047802621	GLUTARIC ACIDEMIA, TYPE 1	NTRAGLUCOADE	GLUTARIC ACIDEMIA, TYPE 1		225281DH
3047803746	NIEMANN-PICK DISEASE, TYPE C2	NIEMPICKC2	NIEMANN PICK DISEASE, TYPE C2	Niemann-Pick Disease, Type C2	225281GY
3047800961	ALPHA-THALASSEMIA	ATHALASS	ALPHA THALASSEMIA		225281P
3047804257	PRIMARY HYPEROXALURIA, TYPE 2	PRHYTY2	PRIMARY HYPEROXALURIA, TYPE 2		225281HS
3047804099	PITUITARY HORMONE DEFICIENCY, COMBINED 3	PITUITARY	PITUITARY HORMONE DEFICIENCY, COMBINED 3		225281HJ
3047802636	GLYCOGEN STORAGE DISEASE, TYPE 1B	GLYCSD1B	GLYCOGEN STORAGE DISEASE, TYPE 1B		225281DL
3047803502	METHYLMALONIC ACIDURIA AND HOMOCYST CBIC	MEACHOCBLC	MEACHOCBLC		225281FO
3047802978	HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCIT	HHHSYNDR	HYPERORNITHINEMIA HYPERAMMONEMIA HOMOCIT		225281EF
3047805457	CYSTINOSIS	CYSTINOSIS	CYSTINOSIS		225281CC
3047803644	MUCOPOLYSACCHARIDOSIS, TYPE VI	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE VI		225281GI
3047804538	REPORT SUMMARY	REPRTSUM	REPORT SUMMARY		225043A
3047803163	JUVENILE RETINOSCHISIS, X-LINKED	RETINOSCH	JUVENILE RETINOSCHISIS, X LINKED		225281JI
3047805643	SALLA DISEASE	SALLADIS	SALLADIS, DISEASE		225281IK
3047801645	CARNITINE PALMITOYLTRANSFERASE II DEF	CPTDEF	CARNITINE PALMITOYLTRANSFERASE II DEF		225281AT
3047805391	ATAXIA-TELANGIECTASIA	ATAXIATELAN	ATAXIA TELANGIECTASIA		225281AB
3047801969	CONGENITAL DISORDER OF GLYCOSYLATION 1C	CONDOGLYC1C	CONGENITAL DISORDER OF GLYCOSYLATION 1C		225281BP
3047803696	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	NACETGLUTSYN	N ACETYLGLUTAMATE SYNTHASE DEFICIENCY		225281GO
3047802300	EMERY-DREIFUSS MUSCULAR DYSTROPHY 1 X-LI	EMERYDMD	EMERY DREIFUSS MUSCULAR DYSTROPHY 1 X LI		225281CK
3047803271	LEUKOENCEPHALOPATHY WITH VANISHING WHITE	LEUKOENCEPH	LEUKOENCEPHALOPATHY WITH VANISHING WHITE		225281EV
3047805330	ZELLWEGER SPECTRUM DISORDERS, PEX2-RELAT	ZELLWEGE	ZELLWEGER SPECTRUM DISORDERS, PEX2 RELAT		225281JL
3047802412	FAMILIAL HYPERCHOLESTEROLEMIA, LDLRAP1	HYPCHFALDLRA	FAMILIAL HYPERCHOLESTEROLEMIA, LDLRAP1		225281CS
3047804557	RETINITIS PIGMENTOSA 26	RETPIG26	RETINITIS PIGMENTOSA 26		225281ID
3047801310	BARTTER SYNDROME	BARTTER	BARTTER SYNDROME		225281AJ
3047805395	BARDET-BIEDL SYNDROME, BBS12-RELATED	BBS12	BARDET BIEDL SYNDROME, BBS12 RELATED		225281AH
3047805389	ATAXIA WITH VITAMIN E DEFICIENCY	ATAXIAVITE	ATAXIA WITH VITAMIN E DEFIENCY		225281AA
3047801974	CONGENITAL INSENSIVITY TO PAIN WITH ANHI	CONGINSPWA	CONGENITAL INSENSIVITY TO PAIN WITH ANHI		225281BR
3047803301	LIPOID ADRENAL HYPERPLASIA	LIPADRHYPER	LIPOID ADRENAL HYPERPLASIA		225281FD
3047802766	HEPATOCEREBRAL MITOCHONDRIAL DNA DEPLETI	NTRAMITOCHON	HEPATOCEREBRAL MITOCHONDRIAL DNA DEPLETI		225281FW
3047805367	ACHROMATOPSIA	ACHROMATOP	ACHROMATOPSIA		225281I
3047802018	CRB1-RELATED RETINAL DYSTROPHIES	CRB1RERETDY	CRB1 RELATED RETINAL DYSTROPHIES		225281BZ
3047802307	ENHANCED S-CONE SYNDROME	ENHASCONSY	ENHANCED S CONE SYNDROME		225281CL
3047800786	3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIE	3PHOSPHODD	3 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY		225281E
3047801935	COMBINED PITUITARY HORMONE DEFICIENCY-2	COMBPITHOD2	COMBINED PITUITARY HORMONE DEFICIENCY 2		225281BK
3047803289	LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2D	MUSCDYST2D	LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2D		225281EZ
3047805414	CANAVAN DISEASE	CANAVAN	CANAVAN DISEASE		225281AP
3047800852	ACUTE INFANTILE LIVER FAILURE	ACINFLIVFAIL	ACUTE INFANTILE LIVER FAILURE		225281K
3047804282	PROPIONIC ACIDEMIA, PCCB-RELATED	PCCBPROACI	PROPIONIC ACIDEMIA, PCCB RELATED		225281HX
3047802899	HOMOCYSTINURIA, TYPE CBLE	NTRAHOMOCYS	HOMOCYSTINURIA, TYPE CBLE		225281EC
3047805522	HYDROLETHALUS SYNDROME	HYDROSYN	HYDROLETHALUS SYNDROME		225281ED
3047804214	PONTOCEREBELLAR HYPOPLASIA, TYPE 2D	PONTYPE2D	PONTOCEREBELLAR HYPOPLASIA, TYPE 2D		225281HU
3047803692	MYOTUBULAR MYOPATHY, X-LINKED	MYOTUBMYO	MYOTUBULAR MYOPATHY, X LINKED		225281GN
3047805651	SMITH-LEMLI-OPITZ SYNDROME	SLOS	SLOS, SYNDROME		225281IR
3047800783	3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEF	3HYDRO3METH	3 HYDROXY 3 METHYLGLUTARYL COA LYASE DEFICIENCY		225281B
3047803536	MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6	MITOCHONCOM	MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6		225281FV
3047801217	AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP	AUTISMSPEC	AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP		225281AC
3047803640	MUCOPOLYSACCHARIDOSIS, TYPE IIIC	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE IIIC		225281GF
3047801641	CARNITINE DEFICIENCY	CARNITINE	CARNITINE DEFICIENCY		225281AR
3047803537	MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC	MITOMYOSID	MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC		225281FX
3047805503	GALACTOSEMIA	GALACTOSEMIA	GALACTOSEMIA		225281DC
3047805645	SANDHOFF DISEASE	SANDHOFF	SANDHOFF, DISEASE		225281IL
3047805190	USHER SYNDROME, TYPE 2A	USHT2A	USHER SYNDROME, TYPE 2A		225281JC
3047805483	FAMILIAL MEDITERRANEAN FEVER	FAMMED	FAMILIAL MEDITERRANEAN FEVER		225281CU
3047801973	CONGENITAL HYPERINSULINISM	CONHYPINS	CONGENITAL HYPERINSULINISM		225281EE
3047805548	LEIGH SYNDROME, FRENCH-CANADIAN TYPE	LEIGHSYN	LEIGH SYNDROME, FRENCH CANADIAN TYPE		225281ET
3047803886	ORNITHINE AMINOTRANSFERASE DEFICIENCY	ORNITHAMDEF	ORNITHINE AMINOTRANSFERASE DEFICIENCY		225281HE
3047801794	CHRONIC GRANULOMATOUS DISEASE, CYBA-REL	CGD	CHRONIC GRANULOMATOUS DISEASE, CYBA REL		225281BB
3047805541	ISOVALERIC ACIDEMIA	ISOVALERIC	ISOVALERIC ACIDEMIA		225281EK
3047803642	MUCOPOLYSACCHARIDOSIS, TYPE IVB	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE IVB		225281GH
3047800782	3-BETA-HYDROXYSTEROID DEHYDROGENASE II	3BETAHYDDEH	3 BETA HYDROXYSTEROID DEHYDROGENASE TYPE II DEFICIENCY		225281A
3047800891	ADRENOLEUKODYSTROPHY	ADRENOLEUK	ADRENOLEUKODYSTROPHY		225281M
3047802366	ETHYLMALONIC ENCEPHALOPATHY	ETHYLMALENC	ETHYLMALONIC ENCEPHALOPATHY		225281CM
3047803650	MULTIPLE SULPHATASE DEFICIENCY	MULTSUPHDEF	MULTIPLE SULPHATASE DEFICIENCY		225281GK
3047805455	CYSTIC FIBROSIS	CYSTICFIB	CYSTIC FIBROSIS		225281CB
3047805694	WILSON DISEASE	WILSONDIS	WILSONDIS, DISEASE		225281JG
3047802242	DUCHENNE/BECKER MUSCULAR DYSTROPHY	DUCHBECKMD	DUCHENNE BECKER MUSCULAR DYSTROPHY		225281CF
3047802112	DEAFNESS, AUTOSOMAL RECESSIVE 77	DEAFAUTORE77	DEAFNESS, AUTOSOMAL RECESSIVE 77		225281CE
3047803266	LETHAL CONGENITAL CONTRACTURE SYNDROME 1	LCCS	LETHAL CONGENITAL CONTRACTURE SYNDROME 1		225281EU
3047805393	BARDET-BIEDL SYNDROME, BBS10-RELATED	BBS10	BARDET BIEDL SYNDROME, BBS10 RELATED		225281AG
3047805375	ALSTROM SYNDROME	ALSTROM	ALSTROM SYNDROME		225281U
3047801301	BARE LYMPHOCYTE SYNDROME, CIITA	BARELYMPH	BARE LYMPHOCYTE SYNDROME, CIITA		225281AI
3047803290	LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2E	MUSCDYST2E	LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2E		225281FA
3047802020	CREATINE TRANSPORTER DEFECT	CREATTRANDE	CREATINE TRANSPORTER DEFECT		225281CA
3047805546	KRABBE DISEASE	KRABBE	KRABBE DISEASE		225281EN
3047805425	CHOROIDEREMIA	CHOROIDEREM	CHOROIDEREMIA		225281BA
3047803398	MAPLE SYRUP URINE DISEASE, TYPE 1A	MAPLEUR	MAPLE SYRUP URINE DISEASE, TYPE 1A		225281FH
3047806892	ACYL-COA OXIDASE I DEFICIENCY	ACYLCOAOX	ACYL COA OXIDASE I DEFICIENCY		225281L
3047801174	ARGININOSUCCINATE LYASE DEFICIENCY	ARGININOSULD	ARGININOSUCCINATE LYASE DEFICIENCY		225281W
3047805552	LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENA	LONGCHAIN3	LONG CHAIN 3 HYDROXYACYL COA DEHYDROGENA		225281FF
3047803857	OMENN SYNDROME	OMENSYN	OMENN SYNDROME		225281HD
3047802778	HERMANSKY-PUDLAK SYNDROME, HPS1-RELATED	NTRAHERMANSK	HERMANSKY PUDLAK SYNDROME, HPS1 RELATED		225281DX
3047802639	GLYCOGEN STORAGE DISEASE, TYPE 4	NTRAGSDT4	GLYCOGEN STORAGE DISEASE, TYPE 4		225281DO
3047802295	ELLIS-VAN CREVELD SYNDOME	ELLISVANCSYN	ELLIS VAN CREVELD SYNDOME		225281CJ
3047800804	6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE	6PYRUTETASY	6 PYRUVOYL TETRAHYDROPTERIN SYNTHASE		225281F
3047803506	METHYLMALONIC ACIDURIA, MMAB-RELATED	METHYLACID	METHYLMALONIC ACIDURIA, MMAB RELATED		225281FR
3047801369	BETA-HEMOGLOBINOPATHIES	BHEMOGLOB	BETA HEMOGLOBINOPATHIES		225281AL
3047801643	CARNITINE PALMITOYLTRANSFERASE IA DEF	CPTDEF	CARNITINE PALMITOYLTRANSFERASE IA DEF		225281AS
3047802675	GUANIDINOACETATE METHYLTRANSFERASE DEFIC	NTRAGUANIDIN	GUANIDINOACETATE METHYLTRANSFERASE DEFIC		225281DS
3047803894	OSTEOPETROSIS, INFANTILE MALIGNANT	OSTPETROSIS	OSTEOPETROSIS, INFANTILE MALIGNANT		225281HG
3047801731	CHARCOT-MARIE-TOOTH DISEASE WITH DEAFNES	CHARCOTMARIE	CHARCOT MARIE TOOTH DISEASE WITH DEAFNES		225281AX
3047801967	CONGENITAL DISORDER OF GLYCOSYLATION 1A	CONDOGLYC1A	CONGENITAL DISORDER OF GLYCOSYLATION 1A		225281BN
3047801780	CHOREOACANTHOCYTOSIS	CHOREOACAN	CHOREOACANTHOCYTOSIS		225281AZ
3047804256	PRIMARY HYPEROXALURIA, TYPE 1	PRHYTY1	PRIMARY HYPEROXALURIA, TYPE 1		225281HR
3047805505	GAUCHER DISEASE	GAUCHER	GAUCHER DISEASE		225281DD
3047802281	EHLERS-DANLOS SYNDROME, TYPE VIIC	EHLDANSYNT93	EHLERS DANLOS SYNDROME, TYPE VIIC		225281CI
3047802001	COSTEFF SYNDROME	COSTEFFSYN	COSTEFF SYNDROME		225281BY
3047801732	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D	CHARCOTMARIE	CHARCOT MARIE TOOTH DISEASE, TYPE 4D		225281AY
3047805441	CONGENITAL FINNISH NEPHROSIS	CONGFINNISH	CONGENITAL FINNISH NEPHROSIS		225281BQ
3047803631	MUCOLIPIDOSIS, TYPE IV	MUCOLIPID	MUCOLIPIDOSIS, TYPE IV		225281GA
3047803503	METHYLMALONIC ACIDURIA AND HOMOCYST CBID	METHYLACID	METHYLMALONIC ACIDURIA AND HOMOCYST CBID		225281FP
3047803729	NEURONAL CEROID LIPOFUSCINOSIS, CLN5	NEURONCERLIP	NEURONAL CEROID LIPOFUSCINOSIS, CLN5		225281GQ
3047803291	LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2I	MUSCDYST2I	LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2I		225281FB
3047803445	METACHROMATIC LEUKODYSTROPHY, ARSA	METALEUKO	METACHROMATIC LEUKODYSTROPHY, ARSA		225281FM
3047804682	SEGAWA SYNDROME, TH-RELATED	SEGSYND	SEGAWA SYNDROME, TH RELATED		225281IN
3047802638	GLYCOGEN STORAGE DISEASE, TYPE 3	NTRAGSDT3	GLYCOGEN STORAGE DISEASE, TYPE 3		225281DN
3047805623	PYCNODYSOSTOSIS	PYCNODY	PYCNODY, PYCNODYSOSTOSIS		225281HY
3047803518	MICROPHTHALMIA/ANOPHTHALMIA	MICROPHANO	MICROPHTHALMIA ANOPHTHALMIA		225281FT
3047803954	PANEL NOTES	PANELNOTE	PANEL NOTES		225043B
3047804394	PYRUVATE DEHYDROGENASE DEFICIENCY X-LINK	PYDEHDEFX	PYRUVATE DEHYDROGENASE DEFICIENCY X LINK		225281IA
3047803636	MUCOPOLYSACCHARIDOSIS, TYPE I	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE I		225281GB
3047801812	CITRULLINEMIA, TYPE 1	CITRULLINEMI	CITRULLINEMIA, TYPE 1		225281BF
3047803730	NEURONAL CEROID LIPOFUSCINOSIS, CLN6	NEURONCERLIP	NEURONAL CEROID LIPOFUSCINOSIS, CLN6		225281GR
3047804393	PYRUVATE DEHYDROGENASE DEFICIENCY AUTOSO	PYDEHDEFA	PYRUVATE DEHYDROGENASE DEFICIENCY AUTOSO		225281HZ
3047804556	RETINITIS PIGMENTOSA 25	RETPIG25	RETINITIS PIGMENTOSA 25		225281IC
3047805191	USHER SYNDROME, TYPE 3	USHT3	USHER SYNDROME, TYPE 3		225281JD
3047805612	PENDRED SYNDROME	PENDREDSYN	PENDREDSYN, SYNDROME		225281HH
3047802641	GLYCOGEN STORAGE DISEASE, TYPE 7	NTRAGSDT7	GLYCOGEN STORAGE DISEASE, TYPE 7		225281DQ
3047803691	MYONEUROGASTROINTESTINAL ENCEPHALOPATHY	MYPGASINTENC	MYONEUROGASTROINTESTINAL ENCEPHALOPATHY		225281GM
3047802392	FACTOR IX DEFICIENCY	FACTORIXDEF	FACTOR IX DEFICIENCY		225281CO
3047804266	PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLES	PROFAMINTRA	PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLES		225281HV
3047801370	BETA-KETOTHIOLASE DEFICIENCY	BKETODEF	BETA KETOTHIOLASE DEFICIENCY		225281EM
3047803246	LEBER CONGENITAL AMAUROSIS 2	LEBER	LEBER CONGENITAL AMAUROSIS 2		225281EP
3047805509	GRACILE SYNDROME	GRACILE	GRACILE SYNDROME		225281DR
3047801934	COMBINED OXIDATIVE PHOSPHORYLATION DEF 3	COMBOXIPHD3	COMBINED OXIDATIVE PHOSPHORYLATION DEF 3		225281BI
3047803505	METHYLMALONIC ACIDURIA, MMAA-RELATED	METHYLACID	METHYLMALONIC ACIDURIA, MMAA RELATED		225281FQ
3047803734	NEURONAL CEROID LIPOFUSCINOSIS, TPP1-REL	NEURONCERLIP	NEURONAL CEROID LIPOFUSCINOSIS, TPP1 REL		225281GV
3047800949	ALPHA THALASSEMIA INTELLECTUAL DIS SYNDR	ATHALASSINTD	ALPHA THALASSEMIA INTELLECTUAL DIS SYNDROME		225281Q
3047805501	GALACTOKINASE DEFICIENCY	GALACTODEF	GALACTOKINASE DEFICIENCY		225281DB
3047801224	AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CH	AUTORSAC	AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CH		225281AD
3047801991	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNES	CORNDYSPERDF	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNES		225281BW
3047804281	PROPIONIC ACIDEMIA, PCCA-RELATED	PCCAREPROACI	PROPIONIC ACIDEMIA, PCCA RELATED		225281HW
3047802248	DYSTROPHIC EPIDERMOLYSIS BULLOSA	DYSTEPICBU	DYSTROPHIC EPIDERMOLYSIS BULLOSA		225281CH
3047803399	MAPLE SYRUP URINE DISEASE, TYPE 1B	MAPLEUR	MAPLE SYRUP URINE DISEASE, TYPE 1B		225281FI
3047805371	ALPHA-MANNOSIDOSIS	AMANNOSID	ALPHA MANNOSIDOSIS		225281O
3047805331	ZELLWEGER SPECTRUM DISORDERS, PEX6-RELAT	ZELLWEGE	ZELLWEGER SPECTRUM DISORDERS, PEX6 RELAT		225281JM
3047800785	3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFIC	3METHCOACAR2	3 METHYLCROTONYL COA CARBOXYLASE 2 DEFICIENCY		225281D
3047804208	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC	POLYCYSKID	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC		225281HK
3047804717	SEVERE COMBINED IMMUNODEFICIENCY, X-LINK	SEVIMMXL	SEVERE COMBINED IMMUNODEFICIENCY, X LINK		225281JJ
3047805476	FACTOR XI DEFICIENCY	FACTORXI	FACTOR XI DEFICIENCY		225281CP
3047804566	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 3	RHCHPUTY3	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 3		225281IH
3047805189	USHER SYNDROME, TYPE 1F	USHT1F	USHER SYNDROME, TYPE 1F		225281JB
3047805661	STEROID-RESISTANT NEPHROTIC SYNDROME	SRNS	SRNS, SYNDROME		225281IU
3047805459	D-BIFUNCTIONAL PROTEIN DEFICIENCY	DBIFUNCPROT	D BIFUNCTIONAL PROTEIN DEFICIENCY		225281CD
3047802635	GLYCOGEN STORAGE DISEASE, TYPE 1A	GLYCSD1A	GLYCOGEN STORAGE DISEASE, TYPE 1A		225281DK
3047805478	HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA	FAMDYSA	HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA		225281CQ
3047801795	CHRONIC GRANULOMATOUS DISEASE, X-LINKED	CGD	CHRONIC GRANULOMATOUS DISEASE, X LINKED		225281BC
3047805597	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OTD	OTD, DEFICIENCY		225281HF
3047802779	HERMANSKY-PUDLAK SYNDROME, HPS3-RELATED	NTRAHERPUD	HERMANSKY PUDLAK SYNDROME, HPS3 RELATED		225281DY
3047805609	PDF REPORT	PDF	PDF, REPORT		225043E
3047805649	SJOGREN-LARSSON SYNDROME	SJOG	SJOG, SYNDROME		225281IQ
3047801978	CONGENITAL NEUTROPENIA, VPS45-RELATED	CONGNEUTRVP	CONGENITAL NEUTROPENIA, VPS45 RELATED		225281BV
3047804213	PONTOCEREBELLAR HYPOPLASIA, TYPE 1A	PONTYPE1A	PONTOCEREBELLAR HYPOPLASIA, TYPE 1A		225281HM
3047803628	MUCOLIPIDOSIS II/IIIA	MUCOLIPID	MUCOLIPIDOSIS II IIIA		225281FY
3047801977	CONGENITAL NEUTROPENIA, HAX1-RELATED	CONGNEUHAX	CONGENITAL NEUTROPENIA, HAX1 RELATED		225281BU
3047801975	CONGENITAL MYASTHENIC SYNDROME, CHRNE	CONGMYASNCH	CONGENITAL MYASTHENIC SYNDROME, CHRNE		225281BS
3047804252	PRIMARY CILIARY DYSKINESIA DNAI2-RELATED	PCDDNAI2	PRIMARY CILIARY DYSKINESIA, DNAI2 RELATED	Primary Ciliary Dyskinesia, DNAI2-Related	225281HQ
3047801933	COMBINED OXIDATIVE PHOSPHORYLATION DEF 1	COMBOXIPHD1	COMBINED OXIDATIVE PHOSPHORYLATION DEF 1		225281BJ
3047800964	ALPORT SYNDROME, X-LINKED	ALPORTSY	ALPORT SYNDROME, X LINKED		225281T
3047805363	ABETALIPOPROTEINEMIA	ABETALIPO	ABETALIPOPROTEINEMIA		225281G
3047800962	ALPORT SYNDROME, COL4A3-RELATED	ALPORTSY	ALPORT SYNDROME, COL4A3 RELATED		225281R
3047804587	ROBERTS SYNDROME	ROBSYN	ROBERTS SYNDROME		225281IJ
3047803732	NEURONAL CEROID LIPOFUSCINOSIS, MFSD8	NEURONCERLIP	NEURONAL CEROID LIPOFUSCINOSIS, MFSD8		225281GT

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Horizon 274 Carrier Screen (Pan-Ethnic Panel)

Test Catalog Information

Desired Epic Build Horizon 274 Carrier Screen (Pan-Ethnic Panel)

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.