Foresight TM Carrier Screen (UCS) Build info

Synonyms

  • UNIVERSAL CARRIER SCREEN
  • LAB11566

Short Name

UNIVERSAL CARRIER SCREEN

Procedure Master Number

LAB11566

Procedure ID

115447

Clinical Info

Screen measures 176 conditions associated with serious and prevalent inherited conditions

Specimen Type

Blood

Container

Lavender Top Tube

Collection Instructions

Container/Tube:  Lavender top tube(s)
Specimen: Whole Blood 3 ml's
Transport Temperature: Room Temperature
 
Note:
Requires Ethnicity (required for interpretation)
 Choices are:
Northern European (British, German) Southern European (Italian, Greek) French Canadian Ashkenazi Jewish Finnish Other/Mixed Caucasian East Asian (Chinese, Japanese) South Asian (Indian, Pakistani) Southeast Asian (Filipino, Vietnamese) African or African American Hispanic Middle Eastern Native American Pacific Islander Unknown

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Full-exon sequencing with panel-wide deletion calling

Turnaround time: 2 -3 weeks

Days Performed

Performing Laboratory

Myriad Women's Health

CPT

81479, 81405, 81258, 81257, 81404,
81408, 81406, 81250, 81290, 81412
81161, 81400

PDM

145000601

Results
Component Name Base Name Common Name External Name
WALKER-WARBURG SYNDROME RESULT WWSYND WWSYND, RESULT Walker-Warburg Syndrome Result
SULFATE TRANSPORTER-RELATED OSTEOCHONDRO SULTRAOSTEO SULFATE TRANSPORTER RELATED OSTEOCHONDRO Sulfate Transporter-Related Osteochondro
X-LINKED ALPORT SYNDROME XLIALSYN X LINKED ALPORT SYNDROME X-Linked Alport Syndrome
NORTHERN EPILEPSY EPILEPSY NORTHERN EPILEPSY Northern Epilepsy
X-LINKED JUVENILE RETINOSCHISIS XLIJUVRET X LINKED JUVENILE RETINOSCHISIS X-Linked Juvenile Retinoschisis
LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2D MUSCDYST2D LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2D Limb-Girdle Muscular Dystrophy Type 2D
SALLA DISEASE RESULT SALLADIS SALLADIS, RESULT Salla Disease Result
HEREDITARY FRUCTOSE INTOLERANCE RESULT HEREDFRUC HEREDITARY FRUCTOSE INTOLERANCE RESULT Hereditary Fructose Intolerance Result
HJE BULLOSA, LAMC2-RELATED JUEPIBULAMC2 HJE BULLOSA, LAMC2 RELATED Hje Bullosa, Lamc2-Related
PYCNODYSOSTOSIS RESULT PYCNODY PYCNODY, RESULT Pycnodysostosis Result
TYROSINEMIA TYPE I TYROTY1 TYROSINEMIA TYPE I Tyrosinemia Type I
MUCOPOLYSACCHARIDOSIS TYPE IIIB MUCOPOLYSAC MUCOPOLYSACCHARIDOSIS TYPE IIIB Mucopolysaccharidosis Type Iiib
TPP1-RELATED NEURONAL CEROID LIPOFUSCINO TPP1NEURCER TPP1 RELATED NEURONAL CEROID LIPOFUSCINO Tpp1-Related Neuronal Ceroid Lipofuscino
BLOOM SYNDROME RESULT BLOOMSYN BLOOM SYNDROME RESULT Bloom Syndrome Result
CITRULLINEMIA TYPE 1 CITRULLINEMI CITRULLINEMIA TYPE 1 Citrullinemia Type 1
CONGENITAL DISORDER OF GLYCOSYLATION LA CONDOGLYCLA CONGENITAL DISORDER OF GLYCOSYLATION LA Congenital Disorder Of Glycosylation La
GLYCOGEN STORAGE DISEASE TYPE III NTRAGSDT3 GLYCOGEN STORAGE DISEASE TYPE III Glycogen Storage Disease Type Iii
LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E MUSCDYST2E LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2E Limb-Girdle Muscular Dystrophy Type 2E
MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFI ACYLCOA MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFI Medium Chain Acyl-Coa Dehydrogenase Defi
BARDET-BIEDL SYNDROME, BBS2-RELATED RESULT BBS2 BARDET BIEDL SYNDROME, BBS2 RELATED RESULT Bardet-Biedl Syndrome, Bbs2-Related Result
NIEMANN-PICK DISEASE TYPE C2 NIEMPICKC2 NIEMANN PICK DISEASE, TYPE C2 Niemann-Pick Disease, Type C2
MKS1-RELATED DISORDERS MKS1 MKS1 RELATED DISORDERS Mks1-Related Disorders
COL4A3-RELATED ALPORT SYNDROME COLRAS COL4A3 RELATED ALPORT SYNDROME Col4A3-Related Alport Syndrome
CYSTINOSIS RESULT CYSTINOSIS CYSTINOSIS RESULT Cystinosis Result
SHORT CHAIN ACYL-COA DEHYDROGENASE DEFIC SHCHACYLCOA SHORT CHAIN ACYL COA DEHYDROGENASE DEFIC Short Chain Acyl-Coa Dehydrogenase Defic
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DI AUTORPKD AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DI Autosomal Recessive Polycystic Kidney Di
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH MEGLEUKENCE MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH Megalencephalic Leukoencephalopathy With
HEXOSAMINIDASE A DEFICIENCY HEXOADEF HEXOSAMINIDASE A DEFICIENCY Hexosaminidase A Deficiency
SPINAL MUSCULAR ATROPHY SMA SMA, ATROPHY Spinal Muscular Atrophy
POLYGLANDULAR AUTOIMMUNE SYNDROME TYPE 1 POLYGLANDTY1 POLYGLANDULAR AUTOIMMUNE SYNDROME TYPE 1 Polyglandular Autoimmune Syndrome Type 1
USHER SYNDROME TYPE 1F RESULT USHERSYND USHERSYND, RESULT Usher Syndrome Type 1F Result
ALPHA THALASSEMIA ATHALASS ALPHA THALASSEMIA Alpha Thalassemia
PEX1-RELATED ZELLWEGER SYNDROME SPECTRUM NTRAZELLWEGE PEX1 RELATED ZELLWEGER SYNDROME SPECTRUM Pex1-Related Zellweger Syndrome Spectrum
MAPLE SYRUP URINE DISEASE TYPE II MAPLEUR MAPLE SYRUP URINE DISEASE TYPE II Maple Syrup Urine Disease Type Ii
X-LINKED SEVERE COMBINED IMMUNODEFICIENC XLISECCOMIMM X LINKED SEVERE COMBINED IMMUNODEFICIENC X-Linked Severe Combined Immunodeficienc
ALSTROM SYNDROME RESULT ALSTROM ALSTROM SYNDROME RESULT Alstrom Syndrome Result
ATP7A-RELATED DISORDERS ATP7ARD ATP7A RELATED DISORDERS Atp7A-Related Disorders
AUTOSOMAL RECESSIVE OSTEOPETROSIS TYPE 1 AUTOROT1 AUTOSOMAL RECESSIVE OSTEOPETROSIS TYPE 1 Autosomal Recessive Osteopetrosis Type 1
DELTA-SARCOGLYCANOPATHY DELTASARCO DELTA SARCOGLYCANOPATHY Delta-Sarcoglycanopathy
FKRP-RELATED DISORDERS FKRPRTDO FKRP RELATED DISORDERS Fkrp-Related Disorders
LAMA2-RELATED MUSCULAR DYSTROPHY MUSCDYST LAMA2 RELATED MUSCULAR DYSTROPHY Lama2-Related Muscular Dystrophy
LEIGH SYNDROME, FRENCH-CANADIAN TYPE RESULT LEIGHSYN LEIGH SYNDROME, FRENCH CANADIAN TYPE RESULT Leigh Syndrome, French-Canadian Type Result
CALPAINOPATHY CALPAIN CALPAINOPATHY Calpainopathy
COL4A4-RELATED ALPORT SYNDROME COLRAS COL4A4 RELATED ALPORT SYNDROME Col4A4-Related Alport Syndrome
MUCOLIPIDOSIS III GAMMA RESULT MUCOLIPGAM MUCOLIPGAM, RESULT Mucolipidosis Iii Gamma Result
ARSACS ARSACS ARSACS Arsacs
LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENA RESULT LONGCHAIN3 LONG CHAIN 3 HYDROXYACYL COA DEHYDROGENA RESULT Long Chain 3-Hydroxyacyl-Coa Dehydrogena Result
NIEMANN-PICK DISEASE, SMPD1-ASSOCIATED NIEMPICKSMPD NIEMANN PICK DISEASE, SMPD1 Niemann-Pick Disease, SMPD1-Associated
GALACTOSEMIA RESULT GALACTOSEMIA GALACTOSEMIA RESULT Galactosemia Result
ATAXIA WITH VITAMIN E DEFICIENCY RESULT ATAXIAVITE ATAXIA WITH VITAMIN E DEFIENCY RESULT Ataxia With Vitamin E Deficiency Result
CONGENITAL DISORDER OF GLYCOSYLATION LB CONDOGLYCLB CONGENITAL DISORDER OF GLYCOSYLATION LB Congenital Disorder Of Glycosylation Lb
STEROID-RESISTANT NEPHROTIC SYNDROME RESULT SRNS SRNS, RESULT Steroid-Resistant Nephrotic Syndrome Result
NIEMANN-PICK DISEASE TYPE C NIEMPICKC NIEMANN PICK DISEASE, TYPE C Niemann-Pick Disease, Type C
HJE BULLOSA, LAMA3-RELATED JUNEPIBULAM3 HJE BULLOSA, LAMA3 RELATED Hje Bullosa, Lama3-Related
SEGAWA SYNDROME SEGSYND SEGAWA SYNDROME Segawa Syndrome
TYROSINEMIA TYPE II TYROTY2 TYROSINEMIA TYPE II Tyrosinemia Type Ii
11-BETA-HYDROXYLASE-DEFICIENT CONGENITAL 11BETAHYDECO 11 BETA HYDROXYLASE DEFICIENT CONGENITAL 11-Beta-Hydroxylase-Deficient Congenital
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY CPSDEF CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIEN Carbamoyl Phosphate Synthetase I Deficiency
ERCC8-RELATED DISORDERS ERCC8 ERCC8 RELATED DISORDERS Ercc8-Related Disorders
GNPTAB-RELATED DISORDERS GNPTABREDIS GNPTAB RELATED DISORDERS Gnptab-Related Disorders
HMG-COA LYASE DEFICIENCY HMGCOLYDEF HMG COA LYASE DEFICIENCY Hmg-Coa Lyase Deficiency
KCNJ11-RELATED FAMILIAL HYPERINSULINISM HYPERINSUL KCNJ11 RELATED FAMILIAL HYPERINSULINISM Kcnj11-Related Familial Hyperinsulinism
PCCA-RELATED PROPIONIC ACIDEMIA PCCAPROACI PCCA RELATED PROPIONIC ACIDEMIA Pcca-Related Propionic Acidemia
PCCB-RELATED PROPIONIC ACIDEMIA PCCBPROACI PCCB RELATED PROPIONIC ACIDEMIA Pccb-Related Propionic Acidemia
USH2A-RELATED DISORDERS USH2ADIS USH2A RELATED DISORDERS Ush2A-Related Disorders
SANDHOFF DISEASE RESULT SANDHOFF SANDHOFF, RESULT Sandhoff Disease Result
DYSFERLINOPATHY DYSKERATCON DYSFERLINOPATHY Dysferlinopathy
CLN5-RELATED NEURONAL CEROID LIPOFUSCINO CLNRNCL CLN5 RELATED NEURONAL CEROID LIPOFUSCINO Cln5-Related Neuronal Ceroid Lipofuscino
MUCOPOLYSACCHARIDOSIS TYPE IIIC MUCOPOLYSAC MUCOPOLYSACCHARIDOSIS TYPE IIIC Mucopolysaccharidosis Type Iiic
SPONDYLOTHORACIC DYSOSTOSIS RESULT SPONDDYS SPONDDYS, RESULT Spondylothoracic Dysostosis Result
USH1C-RELATED DISORDERS USH1CDIS USH1C RELATED DISORDERS Ush1C-Related Disorders
XERODERMA PIGMENTOSUM GROUP C XEPIGGRPC XERODERMA PIGMENTOSUM GROUP C Xeroderma Pigmentosum Group C
X-LINKED ADRENOLEUKODYSTROPHY XLIADRENO X LINKED ADRENOLEUKODYSTROPHY X-Linked Adrenoleukodystrophy
HYPOPHOSPHATASIA, AUTOSOMAL RECESSIVE HYPOPHOSREC HYPOPHOSPHATASIA, AUTOSOMAL RECESSIVE
HB BETA CHAIN-RELATED HEMOGLOBINOPATHY HEMOGBETHB HB BETA CHAIN RELATED HEMOGLOBINOPATHY Hb Beta Chain-Related Hemoglobinopathy
ABCC8-RELATED HYPERINSULINISM ABCC8RHYP ABCC8 RELATED HYPERINSULINISM Abcc8-Related Hyperinsulinism
GJB2-RELATED DFNB1 NONSYNDROMIC HEARING GJBREDNON GJB2 RELATED DFNB1 NONSYNDROMIC HEARING Gjb2-Related Dfnb1 Nonsyndromic Hearing
PEROXISOME BIOGENESIS DISORDER TYPE 4 PEBIDISTY4 PEBIDISTY4 Peroxisome Biogenesis Disorder Type 4
PRIMARY HYPEROXALURIA TYPE 2 PRHYTY2 PRIMARY HYPEROXALURIA TYPE 2 Primary Hyperoxaluria Type 2
CONGENITAL ADRENAL HYPERPLASIA CONGADNHY CONGENITAL ADRENAL HYPERPLASIA Congenital Adrenal Hyperplasia
PENDRED SYNDROME RESULT PENDREDSYN PENDREDSYN, RESULT Pendred Syndrome Result
D-BIFUNCTIONAL PROTEIN DEFICIENCY RESULT DBIFUNCPROT D BIFUNCTIONAL PROTEIN DEFICIENCY RESULT D-Bifunctional Protein Deficiency Result
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY RESULT HSD HOLOCARBOXYLASE SYNTHETASE DEFICIENCY RESULT Holocarboxylase Synthetase Deficiency Result
HYDROLETHALUS SYNDROME RESULT HYDROSYN HYDROLETHALUS SYNDROME RESULT Hydrolethalus Syndrome Result
MUCOPOLYSACCHARIDOSIS TYPE II MUCOPOLYSAC MUCOPOLYSACCHARIDOSIS TYPE II Mucopolysaccharidosis Type Ii
MUT-RELATED METHYLMALONIC ACIDEMIA METHYLMALAC MUT RELATED METHYLMALONIC ACIDEMIA Mut-Related Methylmalonic Acidemia
PROP1-RELATED COMBINED PITUITARY HORMONE COPIHODEFPR1 PROP1 RELATED COMBINED PITUITARY HORMONE Prop1-Related Combined Pituitary Hormone
MAPLE SYRUP URINE DISEASE TYPE IA MAPLEUR MAPLE SYRUP URINE DISEASE TYPE IA Maple Syrup Urine Disease Type Ia
KRABBE DISEASE RESULT KRABBE KRABBE DISEASE RESULT Krabbe Disease Result
DYSTROPHINOPATHY (INCLUDING DUCHENNE/BEC DYSTRODUCH DYSTROPHINOPATHY Dystrophinopathy (Including Duchenne/Bec
MAPLE SYRUP URINE DISEASE TYPE 1B MAPLEUR MAPLE SYRUP URINE DISEASE TYPE 1B Maple Syrup Urine Disease Type 1B
WILSON DISEASE RESULT WILSONDIS WILSONDIS, RESULT Wilson Disease Result
NEB-RELATED NEMALINE MYOPATHY NEMALMYO NEB RELATED NEMALINE MYOPATHY Neb-Related Nemaline Myopathy
ANDERMANN SYNDROME RESULT ANDERMANN ANDERMANN SYNDROME RESULT Andermann Syndrome Result
CARNITINE PALMITOYLTRANSFERASE IA DEFICI CPTDEF CARNITINE PALMITOYLTRANSFERASE IA DEFICI Carnitine Palmitoyltransferase Ia Defici
CARRIER SCREEN CARRIERSCRN CARRIER SCREEN Carrier Screen
GAUCHER DISEASE RESULT GAUCHER GAUCHER DISEASE RESULT Gaucher Disease Result
ADENOSINE DEAMINASE DEFICIENCY ADDEF ADDEF
EVC-RELATED ELLIS-VAN CREVELD SYNDROME EVC EVC RELATED ELLIS VAN CREVELD SYNDROME Evc-Related Ellis-Van Creveld Syndrome
ATAXIA-TELANGIECTASIA RESULT ATAXIATELAN ATAXIA TELANGIECTASIA RESULT Ataxia-Telangiectasia Result
FABRY DISEASE RESULT FABRY FABRY DISEASE RESULT Fabry Disease Result
GAMMA-SARCOGLYCANOPATHY GAMSARC GAMMA SARCOGLYCANOPATHY Gamma-Sarcoglycanopathy
GLB1-RELATED DISORDERS GLBREDIS GLB1 RELATED DISORDERS Glb1-Related Disorders
METHYLMALONIC ACIDURIA AND HOMOCYSTINURI METHYLACID METHYLMALONIC ACIDURIA AND HOMOCYSTINURI Methylmalonic Aciduria And Homocystinuri
MUCOPOLYSACCHARIDOSIS TYPE IIIA MUCOPOLYSAC MUCOPOLYSACCHARIDOSIS TYPE IIIA Mucopolysaccharidosis Type Iiia
MYO7A-RELATED DISORDERS MYO7A MYO7A RELATED DISORDERS Myo7A-Related Disorders
PEROXISOME BIOGENESIS DISORDER TYPE 3 PEBIODISTY3 PEBIODISTY3 Peroxisome Biogenesis Disorder Type 3
PEROXISOME BIOGENESIS DISORDER TYPE 5 PEBIODITY5 PEBIODITY5 Peroxisome Biogenesis Disorder Type 5
CONGENITAL FINNISH NEPHROSIS RESULT CONGFINNISH CONGENITAL FINNISH NEPHROSIS RESULT Congenital Finnish Nephrosis Result
BARDET-BIEDL SYNDROME, BBS1-RELATED RESULT BBS1 BARDET BIEDL SYNDROME, BBS1 RELATED RESULT Bardet-Biedl Syndrome, Bbs1-Related Result
XERODERMA PIGMENTOSUM GROUP A XEPIGGRPA XERODERMA PIGMENTOSUM GROUP A Xeroderma Pigmentosum Group A
BIOTINIDASE DEFICIENCY RESULT BIOTINIDASE BIOTINIDASE DEFICIENCY RESULT Biotinidase Deficiency Result
BARDET-BIEDL SYNDROME, BBS10-RELATED RESULT BBS10 BARDET BIEDL SYNDROME, BBS10 RELATED RESULT Bardet-Biedl Syndrome, Bbs10-Related Result
ASPARTYLGLYCOSAMINURIA RESULT ASPARTYLGLYO ASPARTYLGLYCOSAMINURIA RESULT Aspartylglycosaminuria Result
CARNITINE PALMITOYLTRANSFERASE II DEFICI CPTDEF CARNITINE PALMITOYLTRANSFERASE II DEFICI Carnitine Palmitoyltransferase Ii Defici
FAMILIAL MEDITERRANEAN FEVER RESULT FAMMED FAMILIAL MEDITERRANEAN FEVER
LIPOAMIDE DEHYDROGENASE DEFICIENCY RESULT LDD LIPOAMIDE DEHYDROGENASE DEFICIENCY RESULT Lipoamide Dehydrogenase Deficiency Result
NIJMEGEN BREAKAGE SYNDROME RESULT NIJMEGEN NIJMEGEN, RESULT Nijmegen Breakage Syndrome Result
SJOGREN-LARSSON SYNDROME RESULT SJOG SJOG, RESULT Sjogren-Larsson Syndrome Result
CARTILAGE-HAIR HYPOPLASIA RESULT CARTHYPO CARTILAGE HAIR HYPOPLASIA RESULT Cartilage-Hair Hypoplasia Result
INCLUSION BODY MYOPATHY 2 RESULT IBM2 INCLUSION BODY MYOPATHY 2 RESULT Inclusion Body Myopathy 2 Result
GLYCOGEN STORAGE DISEASE TYPE IA GLYSTODITYLA GLYCOGEN STORAGE DISEASE TYPE IA Glycogen Storage Disease Type Ia
CONGENITAL DISORDER OF GLYCOSYLATION TYP CONDOGLYCTYP CONGENITAL DISORDER OF GLYCOSYLATION TYP Congenital Disorder Of Glycosylation Typ
FANCONI ANEMIA COMPLEMENTATION GROUP A FANCONIANC FANCONI ANEMIA COMPLEMENTATION GROUP A Fanconi Anemia Complementation Group A
LYSOSOMAL ACID LIPASE DEFICIENCY LYSOSOMALAC LYSOSOMAL ACID LIPASE DEFICIENCY Lysosomal Acid Lipase Deficiency
METHYLMALONIC ACIDEMIA, CBLB TYPE MEACCBLBTY MEACCBLBTY
ORNITHINE TRANSCARBAMYLASE DEFICIENCY RESULT OTD OTD, RESULT Ornithine Transcarbamylase Deficiency Result
PRIMARY HYPEROXALURIA TYPE 3 PRHYTY3 PRIMARY HYPEROXALURIA TYPE 3 Primary Hyperoxaluria Type 3
PYRUVATE CARBOXYLASE DEFICIENCY PYCARDEF PYRUVATE CARBOXYLASE DEFICIENCY Pyruvate Carboxylase Deficiency
COSTEFF OPTIC ATROPHY SYNDROME COSTEFFOP COSTEFF OPTIC ATROPHY SYNDROME Costeff Optic Atrophy Syndrome
PEROXISOME BIOGENESIS DISORDER TYPE 6 PEBIDISTY6 PEBIDISTY6 Peroxisome Biogenesis Disorder Type 6
X-LINKED CONGENITAL ADRENAL HYPOPLASIA XLIADHYPCON X LINKED CONGENITAL ADRENAL HYPOPLASIA X-Linked Congenital Adrenal Hypoplasia
LIPOID CONGENITAL ADRENAL HYPERPLASIA LIPCONADRH LIPOID CONGENITAL ADRENAL HYPERPLASIA Lipoid Congenital Adrenal Hyperplasia
FAMILIAL DYSAUTONOMIA RESULT FAMDYSA FAMILIAL DYSAUTONOMIA RESULT Familial Dysautonomia Result
PPT1-RELATED NEURONAL CEROID LIPOFUSCINO PPT1NECELI PPT1 RELATED NEURONAL CEROID LIPOFUSCINO Ppt1-Related Neuronal Ceroid Lipofuscino
JOUBERT SYNDROME 2 RESULT JOUBERTSY2 JOUBERT SYNDROME 2 RESULT Joubert Syndrome 2 Result
GRACILE SYNDROME RESULT GRACILE GRACILE SYNDROME RESULT Gracile Syndrome Result
MUCOLIPIDOSIS IV MUCOLIPID MUCOLIPIDOSIS IV Mucolipidosis Iv
ALPHA-MANNOSIDOSIS RESULT AMANNOSID ALPHA MANNOSIDOSIS RESULT Alpha-Mannosidosis Result
METACHROMATIC LEUKODYSTROPHY METALEUKO METACHROMATIC LEUKODYSTROPHY Metachromatic Leukodystrophy
SMITH-LEMLI-OPITZ SYNDROME RESULT SLOS SLOS, RESULT Smith-Lemli-Opitz Syndrome Result
VERY LONG CHAIN ACYL-COA DEHYDROGENASE D VERYLONG VERY LONG CHAIN ACYL COA DEHYDROGENASE D Very Long Chain Acyl-Coa Dehydrogenase D
CLN3-RELATED NEURONAL CEROID LIPOFUSCINO CLNRNCL CLN3 RELATED NEURONAL CEROID LIPOFUSCINO Cln3-Related Neuronal Ceroid Lipofuscino
RTEL1-RELATED DISORDERS RTEL1RELDIS RTEL1 RELATED DISORDERS Rtel1-Related Disorders
COHEN SYNDROME RESULT COHENSYN COHEN SYNDROME RESULT Cohen Syndrome Result
6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEF 6PYRUTETASYD 6 PYRUVOYL TETRAHYDROPTERIN SYNTHASE PTPS DEFICIENCY 6-Pyruvoyl-Tetrahydropterin Synthase Def
ARGININEMIA ARGININEMIA ARGININEMIA Argininemia
BARDET-BIEDL SYNDROME, BBS12-RELATED RESULT BBS12 BARDET BIEDL SYNDROME, BBS12 RELATED RESULT Bardet-Biedl Syndrome, Bbs12-Related Result
CEREBROTENDINOUS XANTHOMATOSIS RESULT CERBROTEND CEREBROTENDINOUS XANTHOMATOSIS RESULT Cerebrotendinous Xanthomatosis Result
CLN6-RELATED NEURONAL CEROID LIPOFUSCINO CLNRNCL CLN6 RELATED NEURONAL CEROID LIPOFUSCINO Cln6-Related Neuronal Ceroid Lipofuscino
ERCC6-RELATED DISORDERS ERCC6 ERCC6 RELATED DISORDERS Ercc6-Related Disorders
EVC2-RELATED ELLIS-VAN CREVELD SYNDROME EVC2 EVC2 RELATED ELLIS VAN CREVELD SYNDROME Evc2-Related Ellis-Van Creveld Syndrome
TGM1-RELATED AUTOSOMAL RECESSIVE CONGENI TGM1 TGM1 RELATED AUTOSOMAL RECESSIVE CONGENI Tgm1-Related Autosomal Recessive Congeni
METHYLMALONIC ACIDEMIA, CBLA TYPE MEACCBLATY MEACCBLATY
X-LINKED MYOTUBULAR MYOPATHY XLIMYTUBMYO X LINKED MYOTUBULAR MYOPATHY X-Linked Myotubular Myopathy
PRIMARY HYPEROXALURIA TYPE 1 PRHYTY1 PRIMARY HYPEROXALURIA TYPE 1 Primary Hyperoxaluria Type 1
CYSTIC FIBROSIS RESULT CYSTICFIB CYSTIC FIBROSIS RESULT Cystic Fibrosis Result
PHENYLALANINE HYDROXYLASE DEFICIENCY PHHYDEF PHENYLALANINE HYDROXYLASE DEFICIENCY Phenylalanine Hydroxylase Deficiency
USHER SYNDROME TYPE 3 RESULT USHERSYND USHERSYND, RESULT
MUSCLE-EYE-BRAIN DISEASE MUSEYEDIS MUSCLE EYE BRAIN DISEASE Muscle-Eye-Brain Disease
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYP RHCHPUTY RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYP Rhizomelic Chondrodysplasia Punctata Typ
FANCONI ANEMIA TYPE C FANCONIANTPC FANCONI ANEMIA TYPE C Fanconi Anemia Type C
GLUTARIC ACIDEMIA TYPE 1 NTRAGLUCOADE GLUTARIC ACIDEMIA TYPE 1 Glutaric Acidemia Type 1
HOMOCYSTINURIA / CYSTATHIONINE BETA-SYNT HOMOCYSUR HOMOCYSTINURIA CYSTATHIONINE BETA SYNT Homocystinuria / Cystathionine Beta-Synt
HURLER SYNDROME NTRAMUCTYPEI HURLER SYNDROME Hurler Syndrome
GLDC-RELATED GLYCINE ENCEPHALOPATHY GLYENCGLDCRE GLDC RELATED GLYCINE ENCEPHALOPATHY Gldc-Related Glycine Encephalopathy
GLYCOGEN STORAGE DISEASE TYPE IB GLYSTODITYLB GLYCOGEN STORAGE DISEASE TYPE IB Glycogen Storage Disease Type Ib
CANAVAN DISEASE RESULT CANAVAN CANAVAN DISEASE RESULT Canavan Disease Result
ISOVALERIC ACIDEMIA RESULT ISOVALERIC ISOVALERIC ACIDEMIA RESULT Isovaleric Acidemia Result
POMPE DISEASE POMDIS POMPE DISEASE Pompe Disease
PRIMARY CARNITINE DEFICIENCY PRCADEF PRIMARY CARNITINE DEFICIENCY Primary Carnitine Deficiency
HJE BULLOSA, LAMB3-RELATED JUEPBULLAMB3 HJE BULLOSA, LAMB3 RELATED Hje Bullosa, Lamb3-Related
AMT-RELATED GLYCINE ENCEPHALOPATHY AMTRGE AMT RELATED GLYCINE ENCEPHALOPATHY Amt-Related Glycine Encephalopathy
ARGININOSUCCINIC ACIDURIA ARGINACI ARGINACI Argininosuccinic Aciduria
GALACTOKINASE DEFICIENCY RESULT GALACTODEF GALACTOKINASE DEFICIENCY RESULT Galactokinase Deficiency Result
SPASTIC PARAPLEGIA TYPE 15 SPASPARA15 SPASTIC PARAPLEGIA TYPE 15 Spastic Paraplegia Type 15