Horizon 274 Carrier Screen (Pan-Ethnic Panel) Build info

Synonyms

  • HORIZON 274 (PAN-ETHNIC EXTENDED)
  • HCS
  • WOMEN'S HEALTH
  • CARRIER SCREENING
  • NATERA
  • LAB10144

Short Name

HORIZON 274 (PAN-ETHNIC EXTENDED)

Procedure Master Number

LAB10144

Procedure ID

172953

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

Results
Component Name Base Name Common Name External Name
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A MUSCDYST2A LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2A
CHOROIDEREMIA CHOROIDEREM CHOROIDEREMIA
ADRENOLEUKODYSTROPHY ADRENOLEUK ADRENOLEUKODYSTROPHY
ETHYLMALONIC ENCEPHALOPATHY ETHYLMALENC ETHYLMALONIC ENCEPHALOPATHY
MULTIPLE SULPHATASE DEFICIENCY MULTSUPHDEF MULTIPLE SULPHATASE DEFICIENCY
CYSTIC FIBROSIS CYSTICFIB CYSTIC FIBROSIS
WILSON DISEASE WILSONDIS WILSONDIS, DISEASE Wilson Disease
DUCHENNE/BECKER MUSCULAR DYSTROPHY DUCHBECKMD DUCHENNE BECKER MUSCULAR DYSTROPHY Duchenne/Becker Muscular Dystrophy
DEAFNESS, AUTOSOMAL RECESSIVE 77 DEAFAUTORE77 DEAFNESS, AUTOSOMAL RECESSIVE 77
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 LCCS LETHAL CONGENITAL CONTRACTURE SYNDROME 1
BARDET-BIEDL SYNDROME, BBS10-RELATED BBS10 BARDET BIEDL SYNDROME, BBS10 RELATED Bardet-Biedl Syndrome, Bbs10-Related
ALSTROM SYNDROME ALSTROM ALSTROM SYNDROME
BARE LYMPHOCYTE SYNDROME, CIITA BARELYMPH BARE LYMPHOCYTE SYNDROME, CIITA Bare Lymphocyte Syndrome, Ciita
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2E MUSCDYST2E LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2E
CREATINE TRANSPORTER DEFECT CREATTRANDE CREATINE TRANSPORTER DEFECT Creatine Transporter Defect
KRABBE DISEASE KRABBE KRABBE DISEASE
MAPLE SYRUP URINE DISEASE, TYPE 1A MAPLEUR MAPLE SYRUP URINE DISEASE, TYPE 1A
MUCOPOLYSACCHARIDOSIS, TYPE IVB MUCOPOLYSAC MUCOPOLYSACCHARIDOSIS, TYPE IVB Mucopolysaccharidosis, Type Ivb
METHYLMALONIC ACIDURIA, MMAB-RELATED METHYLACID METHYLMALONIC ACIDURIA, MMAB RELATED Methylmalonic Aciduria, Mmab-Related
CONGENITAL DISORDER OF GLYCOSYLATION 1A CONDOGLYC1A CONGENITAL DISORDER OF GLYCOSYLATION 1A Congenital Disorder Of Glycosylation 1A
CHARCOT-MARIE-TOOTH DISEASE WITH DEAFNES CHARCOTMARIE CHARCOT MARIE TOOTH DISEASE WITH DEAFNES Charcot-Marie-Tooth Disease With Deafnes
OSTEOPETROSIS, INFANTILE MALIGNANT OSTPETROSIS OSTEOPETROSIS, INFANTILE MALIGNANT
GUANIDINOACETATE METHYLTRANSFERASE DEFIC NTRAGUANIDIN GUANIDINOACETATE METHYLTRANSFERASE DEFIC Guanidinoacetate Methyltransferase Defic
CARNITINE PALMITOYLTRANSFERASE IA DEF CPTDEF CARNITINE PALMITOYLTRANSFERASE IA DEF Carnitine Palmitoyltransferase Ia Def
BETA-HEMOGLOBINOPATHIES BHEMOGLOB BETA HEMOGLOBINOPATHIES Beta-Hemoglobinopathies
6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE 6PYRUTETASY 6 PYRUVOYL TETRAHYDROPTERIN SYNTHASE 6-Pyruvoyl-Tetrahydropterin Synthase
ACYL-COA OXIDASE I DEFICIENCY ACYLCOAOX ACYL COA OXIDASE I DEFICIENCY Acyl-Coa Oxidase I Deficiency
ELLIS-VAN CREVELD SYNDOME ELLISVANCSYN ELLIS VAN CREVELD SYNDOME Ellis-Van Creveld Syndome
GLYCOGEN STORAGE DISEASE, TYPE 4 NTRAGSDT4 GLYCOGEN STORAGE DISEASE, TYPE 4
HERMANSKY-PUDLAK SYNDROME, HPS1-RELATED NTRAHERMANSK HERMANSKY PUDLAK SYNDROME, HPS1 RELATED Hermansky-Pudlak Syndrome, Hps1-Related
OMENN SYNDROME OMENSYN OMENN SYNDROME
LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENA LONGCHAIN3 LONG CHAIN 3 HYDROXYACYL COA DEHYDROGENA Long Chain 3-Hydroxyacyl-Coa Dehydrogena
ARGININOSUCCINATE LYASE DEFICIENCY ARGININOSULD ARGININOSUCCINATE LYASE DEFICIENCY
3-BETA-HYDROXYSTEROID DEHYDROGENASE II 3BETAHYDDEH 3 BETA HYDROXYSTEROID DEHYDROGENASE TYPE II DEFICIENCY 3-Beta-Hydroxysteroid Dehydrogenase Ii
ISOVALERIC ACIDEMIA ISOVALERIC ISOVALERIC ACIDEMIA
PRIMARY HYPEROXALURIA, TYPE 1 PRHYTY1 PRIMARY HYPEROXALURIA, TYPE 1
HYDROLETHALUS SYNDROME HYDROSYN HYDROLETHALUS SYNDROME
ATAXIA WITH VITAMIN E DEFICIENCY ATAXIAVITE ATAXIA WITH VITAMIN E DEFIENCY Ataxia With Vitamin E Deficiency
CONGENITAL INSENSIVITY TO PAIN WITH ANHI CONGINSPWA CONGENITAL INSENSIVITY TO PAIN WITH ANHI Congenital Insensivity To Pain With Anhi
LIPOID ADRENAL HYPERPLASIA LIPADRHYPER LIPOID ADRENAL HYPERPLASIA
HEPATOCEREBRAL MITOCHONDRIAL DNA DEPLETI NTRAMITOCHON HEPATOCEREBRAL MITOCHONDRIAL DNA DEPLETI Hepatocerebral Mitochondrial Dna Depleti
ACHROMATOPSIA ACHROMATOP ACHROMATOPSIA
CRB1-RELATED RETINAL DYSTROPHIES CRB1RERETDY CRB1 RELATED RETINAL DYSTROPHIES Crb1-Related Retinal Dystrophies
ENHANCED S-CONE SYNDROME ENHASCONSY ENHANCED S CONE SYNDROME Enhanced S-Cone Syndrome
3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIE 3PHOSPHODD 3 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY 3-Phosphoglycerate Dehydrogenase Deficie
COMBINED PITUITARY HORMONE DEFICIENCY-2 COMBPITHOD2 COMBINED PITUITARY HORMONE DEFICIENCY 2 Combined Pituitary Hormone Deficiency-2
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2D MUSCDYST2D LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2D
CANAVAN DISEASE CANAVAN CANAVAN DISEASE
ACUTE INFANTILE LIVER FAILURE ACINFLIVFAIL ACUTE INFANTILE LIVER FAILURE
PROPIONIC ACIDEMIA, PCCB-RELATED PCCBPROACI PROPIONIC ACIDEMIA, PCCB RELATED Propionic Acidemia, Pccb-Related
HOMOCYSTINURIA, TYPE CBLE NTRAHOMOCYS HOMOCYSTINURIA, TYPE CBLE
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D PONTYPE2D PONTOCEREBELLAR HYPOPLASIA, TYPE 2D Pontocerebellar Hypoplasia, Type 2D
CHRONIC GRANULOMATOUS DISEASE, CYBA-REL CGD CHRONIC GRANULOMATOUS DISEASE, CYBA REL Chronic Granulomatous Disease, Cyba-Rel
GALACTOSEMIA GALACTOSEMIA GALACTOSEMIA
ORNITHINE AMINOTRANSFERASE DEFICIENCY ORNITHAMDEF ORNITHINE AMINOTRANSFERASE DEFICIENCY
LEIGH SYNDROME, FRENCH-CANADIAN TYPE LEIGHSYN LEIGH SYNDROME, FRENCH CANADIAN TYPE Leigh Syndrome, French-Canadian Type
CONGENITAL HYPERINSULINISM CONHYPINS CONGENITAL HYPERINSULINISM Congenital Hyperinsulinism
FAMILIAL MEDITERRANEAN FEVER FAMMED FAMILIAL MEDITERRANEAN FEVER
USHER SYNDROME, TYPE 2A USHT2A USHER SYNDROME, TYPE 2A
SANDHOFF DISEASE SANDHOFF SANDHOFF, DISEASE Sandhoff Disease
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC MITOMYOSID MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC Mitochondrial Myopathy And Sideroblastic
MYOTUBULAR MYOPATHY, X-LINKED MYOTUBMYO MYOTUBULAR MYOPATHY, X LINKED Myotubular Myopathy, X-Linked
CARNITINE DEFICIENCY CARNITINEDEF CARNITINE DEFICIENCY
MUCOPOLYSACCHARIDOSIS, TYPE IIIC MUCOPOLYSAC MUCOPOLYSACCHARIDOSIS, TYPE IIIC Mucopolysaccharidosis, Type Iiic
AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP AUTISMSPEC AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP Autism Spectrum, Epilepsy And Arthrogryp
MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6 MITOCHONCOM MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6 Mitochondrial Complex 1 Defic Ndufs6
3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEF 3HYDRO3METH 3 HYDROXY 3 METHYLGLUTARYL COA LYASE DEFICIENCY 3-Hydroxy-3-Methylglutaryl-Coa Lyase Def
SMITH-LEMLI-OPITZ SYNDROME SLOS SLOS, SYNDROME Smith-Lemli-Opitz Syndrome
CHOREOACANTHOCYTOSIS CHOREOACAN CHOREOACANTHOCYTOSIS
GAUCHER DISEASE GAUCHER GAUCHER DISEASE
BARTTER SYNDROME BARTTER BARTTER SYNDROME
HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA FAMDYSA HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA Horizon 274 Carrier Screen Familial Dysautonomia
PROPIONIC ACIDEMIA, PCCA-RELATED PCCAREPROACI PROPIONIC ACIDEMIA, PCCA RELATED Propionic Acidemia, Pcca-Related
DYSTROPHIC EPIDERMOLYSIS BULLOSA DYSTEPICBU DYSTROPHIC EPIDERMOLYSIS BULLOSA Dystrophic Epidermolysis Bullosa
MAPLE SYRUP URINE DISEASE, TYPE 1B MAPLEUR MAPLE SYRUP URINE DISEASE, TYPE 1B
ALPHA-MANNOSIDOSIS AMANNOSID ALPHA MANNOSIDOSIS Alpha-Mannosidosis
ZELLWEGER SPECTRUM DISORDERS, PEX6-RELAT ZELLWEGE ZELLWEGER SPECTRUM DISORDERS, PEX6 RELAT Zellweger Spectrum Disorders, Pex6-Relat
3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFIC 3METHCOACAR2 3 METHYLCROTONYL COA CARBOXYLASE 2 DEFICIENCY 3-Methylcrotonyl-Coa Carboxylase 2 Defic
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC POLYCYSKID POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC Polycystic Kidney Disease, Autosomal Rec
SEVERE COMBINED IMMUNODEFICIENCY, X-LINK SEVIMMXL SEVERE COMBINED IMMUNODEFICIENCY, X LINK Severe Combined Immunodeficiency, X-Link
FACTOR XI DEFICIENCY FACTORXI FACTOR XI DEFICIENCY
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 3 RHCHPUTY3 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 3 Rhizomelic Chondrodysplasia Punctata 3
USHER SYNDROME, TYPE 1F USHT1F USHER SYNDROME, TYPE 1F
STEROID-RESISTANT NEPHROTIC SYNDROME SRNS SRNS, SYNDROME Steroid-Resistant Nephrotic Syndrome
D-BIFUNCTIONAL PROTEIN DEFICIENCY DBIFUNCPROT D BIFUNCTIONAL PROTEIN DEFICIENCY D-Bifunctional Protein Deficiency
GLYCOGEN STORAGE DISEASE, TYPE 1A GLYCSD1A GLYCOGEN STORAGE DISEASE, TYPE 1A
CHRONIC GRANULOMATOUS DISEASE, X-LINKED CGD CHRONIC GRANULOMATOUS DISEASE, X LINKED Chronic Granulomatous Disease, X-Linked
AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CH AUTORSAC AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CH Autosomal Recessive Spastic Ataxia Of Ch
CONGENITAL MYASTHENIC SYNDROME, CHRNE CONGMYASNCH CONGENITAL MYASTHENIC SYNDROME, CHRNE Congenital Myasthenic Syndrome, Chrne
ROBERTS SYNDROME ROBSYN ROBERTS SYNDROME
ALPORT SYNDROME, COL4A3-RELATED ALPORTSY ALPORT SYNDROME, COL4A3 RELATED Alport Syndrome, Col4A3-Related
ABETALIPOPROTEINEMIA ABETALIPO ABETALIPOPROTEINEMIA
ALPORT SYNDROME, X-LINKED ALPORTSY ALPORT SYNDROME, X LINKED Alport Syndrome, X-Linked
COMBINED OXIDATIVE PHOSPHORYLATION DEF 1 COMBOXIPHD1 COMBINED OXIDATIVE PHOSPHORYLATION DEF 1 Combined Oxidative Phosphorylation Def 1
PRIMARY CILIARY DYSKINESIA DNAI2-RELATED PCDDNAI2 PRIMARY CILIARY DYSKINESIA, DNAI2 RELATED Primary Ciliary Dyskinesia, DNAI2-Related
CONGENITAL NEUTROPENIA, HAX1-RELATED CONGNEUHAX CONGENITAL NEUTROPENIA, HAX1 RELATED Congenital Neutropenia, Hax1-Related
ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTD OTD, DEFICIENCY Ornithine Transcarbamylase Deficiency
MUCOLIPIDOSIS II/IIIA MUCOLIPID MUCOLIPIDOSIS II IIIA Mucolipidosis Ii/Iiia
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A PONTYPE1A PONTOCEREBELLAR HYPOPLASIA, TYPE 1A
CONGENITAL NEUTROPENIA, VPS45-RELATED CONGNEUTRVP CONGENITAL NEUTROPENIA, VPS45 RELATED Congenital Neutropenia, Vps45-Related
SJOGREN-LARSSON SYNDROME SJOG SJOG, SYNDROME Sjogren-Larsson Syndrome
PDF REPORT PDF PDF, REPORT Pdf Report
HERMANSKY-PUDLAK SYNDROME, HPS3-RELATED NTRAHERPUD HERMANSKY PUDLAK SYNDROME, HPS3 RELATED Hermansky-Pudlak Syndrome, Hps3-Related
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNES CORNDYSPERDF CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNES Corneal Dystrophy And Perceptive Deafnes
GALACTOKINASE DEFICIENCY GALACTODEF GALACTOKINASE DEFICIENCY Galactokinase Deficiency
EHLERS-DANLOS SYNDROME, TYPE VIIC EHLDANSYNT93 EHLERS DANLOS SYNDROME, TYPE VIIC Ehlers-Danlos Syndrome, Type Viic
MUCOPOLYSACCHARIDOSIS, TYPE I MUCOPOLYSAC MUCOPOLYSACCHARIDOSIS, TYPE I Mucopolysaccharidosis, Type I
COSTEFF SYNDROME COSTEFFSYN COSTEFF SYNDROME Costeff Syndrome
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D CHARCOTMARIE CHARCOT MARIE TOOTH DISEASE, TYPE 4D Charcot-Marie-Tooth Disease, Type 4D
CONGENITAL FINNISH NEPHROSIS CONGFINNISH CONGENITAL FINNISH NEPHROSIS
MUCOLIPIDOSIS, TYPE IV MUCOLIPID MUCOLIPIDOSIS, TYPE IV
METHYLMALONIC ACIDURIA AND HOMOCYST CBID METHYLACID METHYLMALONIC ACIDURIA AND HOMOCYST CBID Methylmalonic Aciduria And Homocyst Cbid
NEURONAL CEROID LIPOFUSCINOSIS, CLN5 NEURONCERLIP NEURONAL CEROID LIPOFUSCINOSIS, CLN5 Neuronal Ceroid Lipofuscinosis, Cln5
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2I MUSCDYST2I LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2I
METACHROMATIC LEUKODYSTROPHY, ARSA METALEUKO METACHROMATIC LEUKODYSTROPHY, ARSA Metachromatic Leukodystrophy, Arsa
SEGAWA SYNDROME, TH-RELATED SEGSYND SEGAWA SYNDROME, TH RELATED Segawa Syndrome, Th-Related
GLYCOGEN STORAGE DISEASE, TYPE 3 NTRAGSDT3 GLYCOGEN STORAGE DISEASE, TYPE 3
PYCNODYSOSTOSIS PYCNODY PYCNODY, PYCNODYSOSTOSIS Pycnodysostosis
MICROPHTHALMIA/ANOPHTHALMIA MICROPHANO MICROPHTHALMIA ANOPHTHALMIA Microphthalmia/Anophthalmia
PANEL NOTES PANELNOTE PANEL NOTES
PYRUVATE DEHYDROGENASE DEFICIENCY X-LINK PYDEHDEFX PYRUVATE DEHYDROGENASE DEFICIENCY X LINK Pyruvate Dehydrogenase Deficiency X-Link
CITRULLINEMIA, TYPE 1 CITRULLINEMI CITRULLINEMIA, TYPE 1 Citrullinemia, Type 1
ALPHA THALASSEMIA INTELLECTUAL DIS SYNDR ATHALASSINTD ALPHA THALASSEMIA INTELLECTUAL DIS SYNDROME Alpha Thalassemia Intellectual Dis Syndr
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLES PROFAMINTRA PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLES Progressive Familial Intrahepatic Choles
NEURONAL CEROID LIPOFUSCINOSIS, TPP1-REL NEURONCERLIP NEURONAL CEROID LIPOFUSCINOSIS, TPP1 REL Neuronal Ceroid Lipofuscinosis, Tpp1-Rel
METHYLMALONIC ACIDURIA, MMAA-RELATED METHYLACID METHYLMALONIC ACIDURIA, MMAA RELATED Methylmalonic Aciduria, Mmaa-Related
COMBINED OXIDATIVE PHOSPHORYLATION DEF 3 COMBOXIPHD3 COMBINED OXIDATIVE PHOSPHORYLATION DEF 3 Combined Oxidative Phosphorylation Def 3
GRACILE SYNDROME GRACILE GRACILE SYNDROME
LEBER CONGENITAL AMAUROSIS 2 LEBER LEBER CONGENITAL AMAUROSIS 2 Leber Congenital Amaurosis 2
BETA-KETOTHIOLASE DEFICIENCY BKETODEF BETA KETOTHIOLASE DEFICIENCY Beta-Ketothiolase Deficiency
FACTOR IX DEFICIENCY FACTORIXDEF FACTOR IX DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS, CLN6 NEURONCERLIP NEURONAL CEROID LIPOFUSCINOSIS, CLN6 Neuronal Ceroid Lipofuscinosis, Cln6
MYONEUROGASTROINTESTINAL ENCEPHALOPATHY MYPGASINTENC MYONEUROGASTROINTESTINAL ENCEPHALOPATHY Myoneurogastrointestinal Encephalopathy
GLYCOGEN STORAGE DISEASE, TYPE 7 NTRAGSDT7 GLYCOGEN STORAGE DISEASE, TYPE 7 Glycogen Storage Disease, Type 7
PENDRED SYNDROME PENDREDSYN PENDREDSYN, SYNDROME Pendred Syndrome
USHER SYNDROME, TYPE 3 USHT3 USHER SYNDROME, TYPE 3
RETINITIS PIGMENTOSA 25 RETPIG25 RETINITIS PIGMENTOSA 25
PYRUVATE DEHYDROGENASE DEFICIENCY AUTOSO PYDEHDEFA PYRUVATE DEHYDROGENASE DEFICIENCY AUTOSO Pyruvate Dehydrogenase Deficiency Autoso
BARDET-BIEDL SYNDROME, BBS12-RELATED BBS12 BARDET BIEDL SYNDROME, BBS12 RELATED Bardet-Biedl Syndrome, Bbs12-Related
RETINITIS PIGMENTOSA 26 RETPIG26 RETINITIS PIGMENTOSA 26
ALPORT SYNDROME, COL4A4-RELATED ALPORTSY ALPORT SYNDROME, COL4A4 RELATED Alport Syndrome, Col4A4-Related
USHER SYNDROME, TYPE 1C USHT1C USHER SYNDROME, TYPE 1C
RENAL TUBULAR ACIDOSIS AND DEAFNESS RENTUAC RENAL TUBULAR ACIDOSIS AND DEAFNESS Renal Tubular Acidosis And Deafness
MUCOPOLYSACCHARIDOSIS, TYPE IIIB MUCOPOLYSAC MUCOPOLYSACCHARIDOSIS, TYPE IIIB Mucopolysaccharidosis, Type Iiib
HEREDITARY SPASTIC PARAPARESIS, TYPE 49 NTRAHSPT49 HEREDITARY SPASTIC PARAPARESIS, TYPE 49
MENKES SYNDROME MENKES MENKES SYNDROME Menkes Syndrome
BATTEN DISEASE BATTEN BATTEN DISEASE Batten Disease
MUCOLIPIDOSIS III GAMMA MUCOLIPGAM MUCOLIPGAM, GAMMA Mucolipidosis Iii Gamma
HEMOCHROMATOSIS, TYPE 3, TFR2-RELATED NTRAHEMT3 HEMOCHROMATOSIS, TYPE 3, TFR2 RELATED Hemochromatosis, Type 3, Tfr2-Related
MUCOPOLYSACCHARIDOSIS, TYPE IIIA MUCOPOLYSAC MUCOPOLYSACCHARIDOSIS, TYPE IIIA Mucopolysaccharidosis, Type Iiia
LYSINURIC PROTEIN INTOLERANCE LYSINURIC LYSINURIC PROTEIN INTOLERANCE
3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFIC 3METHCOACAR1 3 METHYLCROTONYL COA CARBOXYLASE 1 DEFICIENCY 3-Methylcrotonyl-Coa Carboxylase 1 Defic
CILIOPATHIES, RPGRIP1L-RELATED CILLOPATH CILIOPATHIES, RPGRIP1L RELATED Ciliopathies, Rpgrip1L-Related
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B MUSCDYST2B LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2B
FAMILIAL HYPERCHOLESTEROLEMIA, LDLR HYPCHFALDLR FAMILIAL HYPERCHOLESTEROLEMIA, LDLR Familial Hypercholesterolemia, Ldlr
CARBAMOYL PHOSPHATE SYNTHETASE I DEF CPSDEF CARBAMOYL PHOSPHATE SYNTHETASE I DEF Carbamoyl Phosphate Synthetase I Def
GLYCOGEN STORAGE DISEASE, TYPE 5 NTRAGSDT5 GLYCOGEN STORAGE DISEASE, TYPE 5 Glycogen Storage Disease, Type 5
WOLMAN DISEASE WOLDIS WOLMAN DISEASE
ASPARAGINE SYNTHETASE DEFICIENCY ASPARAGINESD ASPARAGINE SYNTHETASE DEFICIENCY
GLUTARIC ACIDEMIA, TYPE 2C NTRAGLUTYP2C GLUTARIC ACIDEMIA, TYPE 2C
TAY-SACHS DISEASE TAYSACHSDIS TAY SACHS DISEASE Tay-Sachs Disease
AICARDI-GOUTIÈRES SYNDROME AICGOUTSYN NTRA AICARDI GOUTIÈRES SYNDROME Aicardi-Goutières Syndrome
LEBER CONGENITAL AMAUROSIS, TYPE LCA5 LELCA5 LEBER CONGENITAL AMAUROSIS, TYPE LCA5
CARPENTER SYNDROME CARPENTERSYN CARPENTER SYNDROME
GLYCINE ENCEPHALOPATHY, AMT-RELATED GLYENCEAMTRE GLYCINE ENCEPHALOPATHY, AMT RELATED Glycine Encephalopathy, Amt-Related
MITOCHONDRIAL COMPLEX 1 DEFIC ACAD9 MITOCHCOM MITOCHONDRIAL COMPLEX 1 DEFIC ACAD9 Mitochondrial Complex 1 Defic Acad9
BARDET-BIEDL SYNDROME, BBS1-RELATED BBS1 BARDET BIEDL SYNDROME, BBS1 RELATED Bardet-Biedl Syndrome, Bbs1-Related
NIJMEGEN BREAKAGE SYNDROME NIJMEGEN NIJMEGEN, SYNDROME Nijmegen Breakage Syndrome
RETINITIS PIGMENTOSA 28 RETPIG28 RETINITIS PIGMENTOSA 28
CONGENITAL DISORDER OF GLYCOSYLATION 1B CONDOGLYC1B CONGENITAL DISORDER OF GLYCOSYLATION 1B Congenital Disorder Of Glycosylation 1B
REPORT NOTES REPORTNOTE REPORTNOTE, NOTES Report Notes
NATERA FOOTNOTES FOOTNOTES NATERA FOOTNOTES Natera Footnotes
HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM FAMHYPER HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM Horizon 274 Carrier Screen Familial Hyperinsulinism
HEREDITARY FRUCTOSE INTOLERANCE HEREDFRUC HEREDITARY FRUCTOSE INTOLERANCE
JOUBERT SYNDROME 2 JOUBERTSY2 JOUBERT SYNDROME 2
NIEMANN-PICK DISEASE, TYPES A/B NIEMPICKAB NIEMANN PICK DISEASE, TYPES A B Niemann-Pick Disease, Types A/B
GLYCINE ENCEPHALOPATHY, GLDC-REL GLYENCGLDCRE GLYCINE ENCEPHALOPATHY, GLDC REL Glycine Encephalopathy, Gldc-Rel
MECKEL-GRUBER SYNDROME, TYPE 1 MECGRUB MECKEL GRUBER SYNDROME, TYPE 1 Meckel-Gruber Syndrome, Type 1
CITRIN DEFICIENCY CITRINDEF CITRIN DEFICIENCY
HORIZON 274 CARRIER SCREEN SPINAL MUSCULAR ATROPHY SMA SMA, ATROPHY
METHYLMALONIC ACIDURIA, TYPE MUT(0) METHYLACID METHYLMALONIC ACIDURIA, TYPE MUT 0 Methylmalonic Aciduria, Type Mut(0)
SEVERE COMBINED IMMUNODEFICIENCY, TYPE A SEVIMMTYA SEVERE COMBINED IMMUNODEFICIENCY, TYPE A Severe Combined Immunodeficiency, Type A
CONGENITAL MYASTHENIC SYNDROME, RAPSN-RE CONMYASYNRA CONGENITAL MYASTHENIC SYNDROME, RAPSN RE Congenital Myasthenic Syndrome, Rapsn-Re
ZELLWEGER SPECTRUM DISORDERS, PEX10-RELA ZELLWEGE ZELLWEGER SPECTRUM DISORDERS, PEX10 RELA Zellweger Spectrum Disorders, Pex10-Rela
WALKER-WARBURG SYNDROME WWSYND WWSYND, SYNDROME Walker-Warburg Syndrome
FABRY DISEASE FABRY FABRY DISEASE
ACHONDROGENESIS, TYPE 1B ACHONDROG1B ACHONDROGENESIS, TYPE 1B Achondrogenesis, Type 1B
CORTICOSTERONE METHYLOXIDASE DEFICIENCY CORTMETHDEF CORTICOSTERONE METHYLOXIDASE DEFICIENCY
LAMELLAR ICHTHYOSIS, TYPE 1 LAMELLAR LAMELLAR ICHTHYOSIS, TYPE 1
DYSKERATOSIS CONGENITA DYSKERCONG DYSKERATOSIS CONGENITA
FAMILIAL NEUROPOPHYSEAL DIABETES INSIPID NEURDIAINFAM FAMILIAL NEUROPOPHYSEAL DIABETES INSIPID Familial Neuropophyseal Diabetes Insipid
LEBER CONGENITAL AMAUROSIS, TYPE CEP290 LECEP290 LEBER CONGENITAL AMAUROSIS, TYPE CEP290
MEGALENCEPHALIC LEUKOENCEPHALOPATHY MEGLEUKENCE MEGALENCEPHALIC LEUKOENCEPHALOPATHY Megalencephalic Leukoencephalopathy
FANCONI ANEMIA, GROUP G FANCONIANGRG FANCONI ANEMIA, GROUP G
NIEMANN-PICK DISEASE, TYPE C1/D NIEMPICKC1D NIEMANN PICK DISEASE, TYPE C1 D Niemann-Pick Disease, Type C1/D
MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5 MITOCHONCOM MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5 Mitochondrial Complex 1 Defic Ndufaf5
BARDET-BIEDL SYNDROME, BBS2-RELATED BBS2 BARDET BIEDL SYNDROME, BBS2 RELATED Bardet-Biedl Syndrome, Bbs2-Related
GLYCOGEN STORAGE DISEASE, TYPE 2 NTRAGSDT2 GLYCOGEN STORAGE DISEASE, TYPE 2 Glycogen Storage Disease, Type 2
LIPOAMIDE DEHYDROGENASE DEFICIENCY LDD LIPOAMIDE DEHYDROGENASE DEFICIENCY
SPONDYLOTHORACIC DYSOSTOSIS SPONDDYS SPONDDYS, DYSOSTOSIS Spondylothoracic Dysostosis
SEVERE COMBINED IMMUNODEFICIENCY ADA-REL SEVIMMAD SEVERE COMBINED IMMUNODEFICIENCY ADA REL Severe Combined Immunodeficiency Ada-Rel
GLUTARIC ACIDEMIA, TYPE 2A NTRAGLUTYP2A GLUTARIC ACIDEMIA, TYPE 2A
NEURONAL CEROID LIPOFUSCINOSIS, CLN8 NEURONCERLIP NEURONAL CEROID LIPOFUSCINOSIS, CLN8 Neuronal Ceroid Lipofuscinosis, Cln8
FUMARASE DEFICIENCY FUMARASEDEF FUMARASE DEFICIENCY
HYPOPHOSPHATASIA, ALPL-RELATED HYPOPHOSALPL HYPOPHOSPHATASIA, ALPL RELATED Hypophosphatasia, Alpl-Related
NEMALINE MYOPATHY NEMALINEMYO NEMALINEMYO, MYOPATHY Nemaline Myopathy
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2C MUSCDYST2C LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2C Limb-Girdle Muscular Dystrophy, Type 2C
MUCOPOLYSACCHARIDOSIS, TYPE IX MUCOPOLYSAC MUCOPOLYSACCHARIDOSIS, TYPE IX
PRIMARY CILIARY DYSKINESIA DNAH5-RELATED PCDDNAH5 PRIMARY CILIARY DYSKINESIA, DNAH5 RELATED Primary Ciliary Dyskinesia, DNAH5-Related
LEBER CONGENITAL AMAUROSIS, TYPE RDH12 LERDH12 LEBER CONGENITAL AMAUROSIS, TYPE RDH12
FAMILIAL HYPERCHOLESTEROLEMIA, LDLRAP1 HYPCHFALDLRA FAMILIAL HYPERCHOLESTEROLEMIA, LDLRAP1 Familial Hypercholesterolemia, Ldlrap1
PRIMARY HYPEROXALURIA, TYPE 2 PRHYTY2 PRIMARY HYPEROXALURIA, TYPE 2
USHER SYNDROME, TYPE 1D USHT1D USHER SYNDROME, TYPE 1D
METACHROMATIC LEUKODYSTROPHY, PSAP METALEUKO METACHROMATIC LEUKODYSTROPHY, PSAP Metachromatic Leukodystrophy, Psap
RETINITIS PIGMENTOSA 59 RETPIG59 RETINITIS PIGMENTOSA 59
LIPOPROTEIN LIPASE DEFICIENCY LIPOPROT LIPOPROTEIN LIPASE DEFICIENCY
BIOTINIDASE DEFICIENCY BIOTINIDASE BIOTINIDASE DEFICIENCY
NON-SYNDROMIC HEARING LOSS, GJB2-RELATED NONSYNDRHL NON SYNDROMIC HEARING LOSS, GJB2 RELATED Non-Syndromic Hearing Loss, Gjb2-Related
ANDERMANN SYNDROME ANDERMANN ANDERMANN SYNDROME
ODONTO-ONYCHO-DERMAL DYSPLASIA ONONDERDYS ODONTO ONYCHO DERMAL DYSPLASIA Odonto-Onycho-Dermal Dysplasia
ZELLWEGER SPECTRUM DISORDERS, PEX1-RELAT ZELLWEGE ZELLWEGER SPECTRUM DISORDERS, PEX1 RELAT Zellweger Spectrum Disorders, Pex1-Relat
AUTOIMMUNE POLYGLANDULAR SYNDROME AUTOPOLYSYN AUTOIMMUNE POLYGLANDULAR SYNDROME Autoimmune Polyglandular Syndrome
TYROSINEMIA, TYPE I TYROTY1 TYROSINEMIA, TYPE I
GLUTARIC ACIDEMIA, TYPE 1 NTRAGLUCOADE GLUTARIC ACIDEMIA, TYPE 1 Glutaric Acidemia, Type 1
NIEMANN-PICK DISEASE, TYPE C2 NIEMPICKC2 NIEMANN PICK DISEASE, TYPE C2 Niemann-Pick Disease, Type C2
ALPHA-THALASSEMIA ATHALASS ALPHA THALASSEMIA
PITUITARY HORMONE DEFICIENCY, COMBINED 3 PITUITARY PITUITARY HORMONE DEFICIENCY, COMBINED 3
GITELMAN SYNDROME NTRAGITELSYN GITELMAN SYNDROME
CARNITINE PALMITOYLTRANSFERASE II DEF CPTDEF CARNITINE PALMITOYLTRANSFERASE II DEF Carnitine Palmitoyltransferase Ii Def
ZELLWEGER SPECTRUM DISORDERS, PEX2-RELAT ZELLWEGE ZELLWEGER SPECTRUM DISORDERS, PEX2 RELAT Zellweger Spectrum Disorders, Pex2-Relat
LEUKOENCEPHALOPATHY WITH VANISHING WHITE LEUKOENCEPH LEUKOENCEPHALOPATHY WITH VANISHING WHITE Leukoencephalopathy With Vanishing White
EMERY-DREIFUSS MUSCULAR DYSTROPHY 1 X-LI EMERYDMD EMERY DREIFUSS MUSCULAR DYSTROPHY 1 X LI Emery-Dreifuss Muscular Dystrophy 1 X-Li
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY NACETGLUTSYN N ACETYLGLUTAMATE SYNTHASE DEFICIENCY N-Acetylglutamate Synthase Deficiency
CONGENITAL DISORDER OF GLYCOSYLATION 1C CONDOGLYC1C CONGENITAL DISORDER OF GLYCOSYLATION 1C Congenital Disorder Of Glycosylation 1C
ATAXIA-TELANGIECTASIA ATAXIATELAN ATAXIA TELANGIECTASIA Ataxia-Telangiectasia
SALLA DISEASE SALLADIS SALLADIS, DISEASE Salla Disease
GLYCOGEN STORAGE DISEASE, TYPE 1B GLYCSD1B GLYCOGEN STORAGE DISEASE, TYPE 1B Glycogen Storage Disease, Type 1B
JUVENILE RETINOSCHISIS, X-LINKED RETINOSCH JUVENILE RETINOSCHISIS, X LINKED Juvenile Retinoschisis, X-Linked
REPORT SUMMARY REPRTSUM REPORT SUMMARY
MUCOPOLYSACCHARIDOSIS, TYPE VI MUCOPOLYSAC MUCOPOLYSACCHARIDOSIS, TYPE VI Mucopolysaccharidosis, Type Vi
CYSTINOSIS CYSTINOSIS CYSTINOSIS
HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCIT HHHSYNDR HYPERORNITHINEMIA HYPERAMMONEMIA HOMOCIT Hyperornithinemia-Hyperammonemia-Homocit
METHYLMALONIC ACIDURIA AND HOMOCYST CBIC MEACHOCBLC MEACHOCBLC
FANCONI ANEMIA, GROUP A FANCONIANGRA FANCONI ANEMIA, GROUP A
COMBINED MALONIC AND METHYLMALONIC ACIDU CMMA COMBINED MALONIC AND METHYLMALONIC ACIDU Combined Malonic And Methylmalonic Acidu
MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATE MUSEYEDIS MUSCLE EYE BRAIN DISEASE, POMGNT1 RELATE Muscle-Eye-Brain Disease, Pomgnt1-Relate
SCHIMKE IMMUNOOSSEOUS DYSPLASIA SCHIMMDYSP SCHIMKE IMMUNOOSSEOUS DYSPLASIA
STUVE-WIEDEMANN SYNDROME STUVEWIE STUVE WIEDEMANN SYNDROME Stuve-Wiedemann Syndrome
COHEN SYNDROME COHENSYN COHEN SYNDROME
MUCOPOLYSACCHARIDOSIS, TYPE IIID MUCOPOLYSAC MUCOPOLYSACCHARIDOSIS, TYPE IIID
PONTOCEREBELLAR HYPOPLASIA, RARS2-RELATE PONRARS2 PONTOCEREBELLAR HYPOPLASIA, RARS2 RELATE Pontocerebellar Hypoplasia, Rars2-Relate
ACRODERMATITIS ENTEROPATHICA ACRODERMENTE ACRODERMATITIS ENTEROPATHICA
MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEF ACYLCOA MEDIUM CHAIN ACYL COA DEHYDROGENASE DEF Medium Chain Acyl-Coa Dehydrogenase Def
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1 RHCHPUTY1 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1 Rhizomelic Chondrodysplasia Punctata 1
FANCONI ANEMIA, GROUP C FANCONIANGRC FANCONI ANEMIA, GROUP C
CARTILAGE-HAIR HYPOPLASIA CARTHYPO CARTILAGE HAIR HYPOPLASIA Cartilage-Hair Hypoplasia
HYPOHIDROTIC ECTODERMAL DYSPLASIA X-LINK HYPOHIDR HYPOHIDROTIC ECTODERMAL DYSPLASIA X LINK Hypohidrotic Ectodermal Dysplasia X-Link
PRIMARY CILIARY DYSKINESIA DNAI1-RELATED PCDDNAI1 PRIMARY CILIARY DYSKINESIA, DNAI1 RELATED Primary Ciliary Dyskinesia, DNAI1-Related
HEMOCHROMATOSIS, TYPE 2A NTRAHEMT2A HEMOCHROMATOSIS, TYPE 2A
USHER SYNDROME, TYPE 1B USHT1B USHER SYNDROME, TYPE 1B
NEURONAL CEROID LIPOFUSCINOSIS, PPT1-REL NEURONCERLIP NEURONAL CEROID LIPOFUSCINOSIS, PPT1 REL Neuronal Ceroid Lipofuscinosis, Ppt1-Rel
ASPARTYLGLYCOSAMINURIA ASPARTYLGLYO ASPARTYLGLYCOSAMINURIA
FRAGILE X SYNDROME FRAGILEX FRAGILE X SYNDROME
HORIZON 274 CARRIER SCREEN BLOOM SYNDROME HORBLOOMSYN HORIZON 274 CARRIER SCREEN BLOOM SYNDROME Horizon 274 Carrier Screen Bloom Syndrome
CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE CONGAMETRHO CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE Congenital Amegakaryocytic Thrombocytope
VERY LONG CHAIN ACYL-COA DEHYDROGENASE VERYLONG VERY LONG CHAIN ACYL COA DEHYDROGENASE Very Long Chain Acyl-Coa Dehydrogenase
HOMOCYSTINURIA, CBS-RELATED HOMOCBSRE HOMOCYSTINURIA, CBS RELATED Homocystinuria, Cbs-Related
CEREBROTENDINOUS XANTHOMATOSIS CERBROTEND CEREBROTENDINOUS XANTHOMATOSIS
BILATERAL FRONTOPARIETAL POLYMICROGYRIA BILATFRONT BILATERAL FRONTOPARIETAL POLYMICROGYRIA
PHENYLKETONURIA PHENYLKE PHENYLKETONURIA
PRIMARY HYPEROXALURIA, TYPE 3 PRHYTY3 PRIMARY HYPEROXALURIA, TYPE 3
MUCOPOLYSACCHARIDOSIS, TYPE II MUCOPOLYSAC MUCOPOLYSACCHARIDOSIS, TYPE II Mucopolysaccharidosis, Type Ii
INFANTILE CEREBRAL AND CEREBELLAR ATROPH CEREBRAL INFANTILE CEREBRAL AND CEREBELLAR ATROPH Infantile Cerebral And Cerebellar Atroph
CONGENITAL ADRENAL HYPERPLASIA, 17-ALPHA CONGADNHY17A CONGENITAL ADRENAL HYPERPLASIA, 17 ALPHA Congenital Adrenal Hyperplasia, 17-Alpha
HOMOCYSTINURIA DUE TO DEFIC OF MTHFR HOMOCYSURD HOMOCYSTINURIA DUE TO DEFIC OF MTHFR Homocystinuria Due To Defic Of Mthfr
AROMATASE DEFICIENCY AROMADEF AROMATASE DEFICIENCY
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY HSD HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
INCLUSION BODY MYOPATHY 2 IBM2 INCLUSION BODY MYOPATHY 2
NEURONAL CEROID LIPOFUSCINOSIS, MFSD8 NEURONCERLIP NEURONAL CEROID LIPOFUSCINOSIS, MFSD8 Neuronal Ceroid Lipofuscinosis, Mfsd8