Inpatient and Outpatient Orderable

Horizon 106 Carrier Screen Build info

Synonyms

  • HORIZON 106 CARRIER SCREEN
  • HORIZON106
  • NATERA
  • LAB14344

Procedure Name

HORIZON 106 CARRIER SCREEN

Procedure Master Number

LAB14344

Procedure ID

186089

Clinical Info

Horizon Genetic carrier screening helps determine the risk of passing on serious genetic
conidiations to their child. It can be performed either before or during pregnancy.

Specimen Sources

 Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

 Blood

Container

Lavender Top Tube

Collection Instructions

Container/Tube: 10 mL Lavender EDTA tubes
Specimen:  10 mL Lavender Top Tubes Whole Blood (10 mL min)

Specimen Volume

20 mL Whole Blood ( 10 mL min)

Transport Instructions

Refrigerated

Specimen Stability

3 Days Room Temperature
7 Days Refrigerated
Unacceptable Frozen

Methodology

Next Generation sequencing

Days Performed

TAT: 14 Days

Performing Laboratory

CPT

81412

PDM

 245346

Only Orderable at Locations:

 Orderable Everywhere

Results
Component Name Base Name Common Name External Name
REPORT SUMMARY REPRTSUM REPORT SUMMARY Report Summary
PANEL NOTES PANELNOTE PANEL NOTES Panel Notes
REPORT NOTES REPORTNOTE REPORTNOTE, NOTES Report Notes
NATERA FOOTNOTES FOOTNOTES NATERA FOOTNOTES Natera Footnotes
PDF REPORT PDF PDF, REPORT PDF
CYSTIC FIBROSIS CYSTICFIB CYSTIC FIBROSIS Cystic Fibrosis
DUCHENNE/BECKER MUSCULAR DYSTROPHY DUCHBECKMD DUCHENNE BECKER MUSCULAR DYSTROPHY Duchenne/Becker Muscular Dystrophy
FRAGILE X SYNDROME FRAGILEX FRAGILE X SYNDROME Fragile X Syndrome
HORIZON 274 CARRIER SCREEN SPINAL MUSCULAR ATROPHY SMA SMA, ATROPHY Spinal Muscular Atrophy
ALPHA-THALASSEMIA ATHALASS ALPHA THALASSEMIA Alpha-Thalassemia
BATTEN DISEASE BATTEN BATTEN DISEASE Batten Disease
BETA-HEMOGLOBINOPATHIES BHEMOGLOB BETA HEMOGLOBINOPATHIES Beta-Hemoglobinopathies
HORIZON 274 CARRIER SCREEN BLOOM SYNDROME HORBLOOMSYN HORIZON 274 CARRIER SCREEN BLOOM SYNDROME Bloom Syndrome
CANAVAN DISEASE CANAVAN CANAVAN DISEASE Canavan Disease
CITRULLINEMIA, TYPE 1 CITRULLINEMI CITRULLINEMIA, TYPE 1 Citrullinemia, Type 1
HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA FAMDYSA HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA Familial Dysautonomia
FANCONI ANEMIA, GROUP C FANCONIANGRC FANCONI ANEMIA, GROUP C Fanconi Anemia, Group C
GALACTOSEMIA GALACTOSEMIA GALACTOSEMIA Galactosemia
GAUCHER DISEASE GAUCHER GAUCHER DISEASE Gaucher Disease
GLYCOGEN STORAGE DISEASE, TYPE 1A GLYCSD1A GLYCOGEN STORAGE DISEASE, TYPE 1A Glycogen Storage Disease, Type 1A
ISOVALERIC ACIDEMIA ISOVALERIC ISOVALERIC ACIDEMIA Isovaleric Acidemia
MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEF ACYLCOA MEDIUM CHAIN ACYL COA DEHYDROGENASE DEF Medium Chain Acyl-CoA Dehydrogenase Def
METHYLMALONIC ACIDURIA AND HOMOCYST CBIC MEACHOCBLC MEACHOCBLC Methylmalonic Aciduria and Homocyst cbIC
MUCOLIPIDOSIS, TYPE IV MUCOLIPID MUCOLIPIDOSIS, TYPE IV Mucolipidosis, Type IV
MUCOPOLYSACCHARIDOSIS, TYPE I MUCOPOLYSAC MUCOPOLYSACCHARIDOSIS, TYPE I Mucopolysaccharidosis, Type I
NIEMANN-PICK DISEASE, TYPES A/B NIEMPICKAB NIEMANN PICK DISEASE, TYPES A B Niemann-Pick Disease, Types A/B
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC POLYCYSKID POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC Polycystic Kidney Disease, Autosomal Rec
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1 RHCHPUTY1 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1 Rhizomelic Chondrodysplasia Punctata 1
SMITH-LEMLI-OPITZ SYNDROME SLOS SLOS, SYNDROME Smith-Lemli-Opitz Syndrome
TAY-SACHS DISEASE TAYSACHSDIS TAY SACHS DISEASE Tay-Sachs Disease
TYROSINEMIA, TYPE I TYROTY1 TYROSINEMIA, TYPE I Tyrosinemia, Type I
ZELLWEGER SPECTRUM DISORDERS, PEX1-RELAT ZELLWEGE ZELLWEGER SPECTRUM DISORDERS, PEX1 RELAT Zellweger Spectrum Disorders, PEX1-Relat
3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIE 3PHOSPHODD 3 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY 3-Phosphoglycerate Dehydrogenase Deficie
ABETALIPOPROTEINEMIA ABETALIPO ABETALIPOPROTEINEMIA Abetalipoproteinemia
ACUTE INFANTILE LIVER FAILURE ACINFLIVFAIL ACUTE INFANTILE LIVER FAILURE Acute Infantile Liver Failure
ADRENOLEUKODYSTROPHY ADRENOLEUK ADRENOLEUKODYSTROPHY Adrenoleukodystrophy
ALPORT SYNDROME, COL4A3-RELATED ALPORTSY ALPORT SYNDROME, COL4A3 RELATED Alport Syndrome, COL4A3-Related
ASPARAGINE SYNTHETASE DEFICIENCY ASPARAGINESD ASPARAGINE SYNTHETASE DEFICIENCY Asparagine Synthetase Deficiency
ATAXIA-TELANGIECTASIA ATAXIATELAN ATAXIA TELANGIECTASIA Ataxia-Telangiectasia
AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP AUTISMSPEC AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP Autism Spectrum, Epilepsy and Arthrogryp
BARDET-BIEDL SYNDROME, BBS2-RELATED BBS2 BARDET BIEDL SYNDROME, BBS2 RELATED Bardet-Biedl Syndrome, BBS2-Related
CARNITINE PALMITOYLTRANSFERASE II DEF CPTDEF CARNITINE PALMITOYLTRANSFERASE II DEF Carnitine Palmitoyltransferase II Def
CEREBROTENDINOUS XANTHOMATOSIS CERBROTEND CEREBROTENDINOUS XANTHOMATOSIS Cerebrotendinous Xanthomatosis
CHOREOACANTHOCYTOSIS CHOREOACAN CHOREOACANTHOCYTOSIS Choreoacanthocytosis
CHRONIC GRANULOMATOUS DISEASE, CYBA-REL CGD CHRONIC GRANULOMATOUS DISEASE, CYBA REL Chronic Granulomatous Disease, CYBA-Rel
CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE CONGAMETRHO CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE Congenital Amegakaryocytic Thrombocytope
CONGENITAL DISORDER OF GLYCOSYLATION 1A CONDOGLYC1A CONGENITAL DISORDER OF GLYCOSYLATION 1A Congenital Disorder Of Glycosylation 1A
CONGENITAL INSENSIVITY TO PAIN WITH ANHI CONGINSPWA CONGENITAL INSENSIVITY TO PAIN WITH ANHI Congenital Insensivity to Pain with Anhi
CONGENITAL MYASTHENIC SYNDROME, RAPSN-RE CONMYASYNRA CONGENITAL MYASTHENIC SYNDROME, RAPSN RE Congenital Myasthenic Syndrome, RAPSN-Re
CORTICOSTERONE METHYLOXIDASE DEFICIENCY CORTMETHDEF CORTICOSTERONE METHYLOXIDASE DEFICIENCY Corticosterone Methyloxidase Deficiency
COSTEFF SYNDROME COSTEFFSYN COSTEFF SYNDROME Costeff Syndrome
CYSTINOSIS CYSTINOSIS CYSTINOSIS Cystinosis
DEAFNESS, AUTOSOMAL RECESSIVE 77 DEAFAUTORE77 DEAFNESS, AUTOSOMAL RECESSIVE 77 Deafness, Autosomal Recessive 77
DYSKERATOSIS CONGENITA DYSKERCONG DYSKERATOSIS CONGENITA Dyskeratosis Congenita
EHLERS-DANLOS SYNDROME, TYPE VIIC EHLDANSYNT93 EHLERS DANLOS SYNDROME, TYPE VIIC Ehlers-Danlos Syndrome, Type Viic
ENHANCED S-CONE SYNDROME ENHASCONSY ENHANCED S CONE SYNDROME Enhanced S-Cone Syndrome
FACTOR IX DEFICIENCY FACTORIXDEF FACTOR IX DEFICIENCY Factor IX Deficiency
FACTOR XI DEFICIENCY FACTORXI FACTOR XI DEFICIENCY Factor XI Deficiency
FAMILIAL HYPERCHOLESTEROLEMIA, LDLR HYPCHFALDLR FAMILIAL HYPERCHOLESTEROLEMIA, LDLR Familial Hypercholesterolemia, LDLR
HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM FAMHYPER HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM Familial Hyperinsulinism
FAMILIAL MEDITERRANEAN FEVER FAMMED FAMILIAL MEDITERRANEAN FEVER Familial Mediterranean Fever
FANCONI ANEMIA, GROUP A FANCONIANGRA FANCONI ANEMIA, GROUP A Fanconi Anemia, Group A
GLYCOGEN STORAGE DISEASE, TYPE 2 NTRAGSDT2 GLYCOGEN STORAGE DISEASE, TYPE 2 Glycogen Storage Disease, Type 2
GLYCOGEN STORAGE DISEASE, TYPE 3 NTRAGSDT3 GLYCOGEN STORAGE DISEASE, TYPE 3 Glycogen Storage Disease, Type 3
GLYCOGEN STORAGE DISEASE, TYPE 4 NTRAGSDT4 GLYCOGEN STORAGE DISEASE, TYPE 4 Glycogen Storage Disease, Type 4
GLYCOGEN STORAGE DISEASE, TYPE 5 NTRAGSDT5 GLYCOGEN STORAGE DISEASE, TYPE 5 Glycogen Storage Disease, Type 5
GLYCOGEN STORAGE DISEASE, TYPE 7 NTRAGSDT7 GLYCOGEN STORAGE DISEASE, TYPE 7 Glycogen Storage Disease, Type 7
HEREDITARY SPASTIC PARAPARESIS, TYPE 49 NTRAHSPT49 HEREDITARY SPASTIC PARAPARESIS, TYPE 49 Hereditary Spastic Paraparesis, Type 49
HERMANSKY-PUDLAK SYNDROME, HPS3-RELATED NTRAHERPUD HERMANSKY PUDLAK SYNDROME, HPS3 RELATED Hermansky-Pudlak Syndrome, HPS3-Related
HOMOCYSTINURIA DUE TO DEFIC OF MTHFR HOMOCYSURD HOMOCYSTINURIA DUE TO DEFIC OF MTHFR Homocystinuria due to Defic of MTHFR
INCLUSION BODY MYOPATHY 2 IBM2 INCLUSION BODY MYOPATHY 2 Inclusion Body Myopathy 2
INFANTILE CEREBRAL AND CEREBELLAR ATROPH CEREBRAL INFANTILE CEREBRAL AND CEREBELLAR ATROPH Infantile Cerebral and Cerebellar Atroph
JOUBERT SYNDROME 2 JOUBERTSY2 JOUBERT SYNDROME 2 Joubert Syndrome 2
LEBER CONGENITAL AMAUROSIS 2 LEBER LEBER CONGENITAL AMAUROSIS 2 Leber Congenital Amaurosis 2
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B MUSCDYST2B LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2B Limb-Girdle Muscular Dystrophy, Type 2B
LIPOAMIDE DEHYDROGENASE DEFICIENCY LDD LIPOAMIDE DEHYDROGENASE DEFICIENCY Lipoamide Dehydrogenase Deficiency
MAPLE SYRUP URINE DISEASE, TYPE 1B MAPLEUR MAPLE SYRUP URINE DISEASE, TYPE 1B Maple Syrup Urine Disease, Type 1B
MEGALENCEPHALIC LEUKOENCEPHALOPATHY MEGLEUKENCE MEGALENCEPHALIC LEUKOENCEPHALOPATHY Megalencephalic Leukoencephalopathy
METACHROMATIC LEUKODYSTROPHY, ARSA METALEUKO METACHROMATIC LEUKODYSTROPHY, ARSA Metachromatic Leukodystrophy, ARSA
MICROPHTHALMIA/ANOPHTHALMIA MICROPHANO MICROPHTHALMIA ANOPHTHALMIA Microphthalmia/Anophthalmia
MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5 MITOCHONCOM MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5 Mitochondrial Complex 1 Defic NDUFAF5
MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6 MITOCHONCOM MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6 Mitochondrial Complex 1 Defic NDUFS6
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC MITOMYOSID MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC Mitochondrial Myopathy and Sideroblastic
MULTIPLE SULPHATASE DEFICIENCY MULTSUPHDEF MULTIPLE SULPHATASE DEFICIENCY Multiple Sulphatase Deficiency
MYONEUROGASTROINTESTINAL ENCEPHALOPATHY MYPGASINTENC MYONEUROGASTROINTESTINAL ENCEPHALOPATHY Myoneurogastrointestinal Encephalopathy
NEMALINE MYOPATHY NEMALINEMYO NEMALINEMYO, MYOPATHY Nemaline Myopathy
NON-SYNDROMIC HEARING LOSS, GJB2-RELATED NONSYNDRHL NON SYNDROMIC HEARING LOSS, GJB2 RELATED Non-Syndromic Hearing Loss, GJB2-Related
OMENN SYNDROME OMENSYN OMENN SYNDROME Omenn Syndrome
ORNITHINE AMINOTRANSFERASE DEFICIENCY ORNITHAMDEF ORNITHINE AMINOTRANSFERASE DEFICIENCY Ornithine Aminotransferase Deficiency
OSTEOPETROSIS, INFANTILE MALIGNANT OSTPETROSIS OSTEOPETROSIS, INFANTILE MALIGNANT Osteopetrosis, Infantile Malignant
PHENYLKETONURIA PHENYLKE PHENYLKETONURIA Phenylketonuria
AUTOIMMUNE POLYGLANDULAR SYNDROME AUTOPOLYSYN AUTOIMMUNE POLYGLANDULAR SYNDROME Autoimmune Polyglandular Syndrome
PONTOCEREBELLAR HYPOPLASIA, RARS2-RELATE PONRARS2 PONTOCEREBELLAR HYPOPLASIA, RARS2 RELATE Pontocerebellar Hypoplasia, RARS2-Relate
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A PONTYPE1A PONTOCEREBELLAR HYPOPLASIA, TYPE 1A Pontocerebellar Hypoplasia, Type 1A
PRIMARY CILIARY DYSKINESIA DNAH5-RELATED PCDDNAH5 PRIMARY CILIARY DYSKINESIA, DNAH5 RELATED Primary Ciliary Dyskinesia, DNAH5-Related
PRIMARY CILIARY DYSKINESIA DNAI1-RELATED PCDDNAI1 PRIMARY CILIARY DYSKINESIA, DNAI1 RELATED Primary Ciliary Dyskinesia, DNAI1-Related
PRIMARY CILIARY DYSKINESIA DNAI2-RELATED PCDDNAI2 PRIMARY CILIARY DYSKINESIA, DNAI2 RELATED Primary Ciliary Dyskinesia, DNAI2-Related
PRIMARY HYPEROXALURIA, TYPE 3 PRHYTY3 PRIMARY HYPEROXALURIA, TYPE 3 Primary Hyperoxaluria, Type 3
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D PONTYPE2D PONTOCEREBELLAR HYPOPLASIA, TYPE 2D Pontocerebellar Hypoplasia, Type 2D
RENAL TUBULAR ACIDOSIS AND DEAFNESS RENTUAC RENAL TUBULAR ACIDOSIS AND DEAFNESS Renal Tubular Acidosis and deafness
RETINITIS PIGMENTOSA 25 RETPIG25 RETINITIS PIGMENTOSA 25 Retinitis Pigmentosa 25
RETINITIS PIGMENTOSA 26 RETPIG26 RETINITIS PIGMENTOSA 26 Retinitis Pigmentosa 26
RETINITIS PIGMENTOSA 28 RETPIG28 RETINITIS PIGMENTOSA 28 Retinitis Pigmentosa 28
RETINITIS PIGMENTOSA 59 RETPIG59 RETINITIS PIGMENTOSA 59 Retinitis Pigmentosa 59
USHER SYNDROME, TYPE 1F USHT1F USHER SYNDROME, TYPE 1F Usher Syndrome, Type 1F
USHER SYNDROME, TYPE 2A USHT2A USHER SYNDROME, TYPE 2A Usher Syndrome, Type 2A
USHER SYNDROME, TYPE 3 USHT3 USHER SYNDROME, TYPE 3 Usher Syndrome, Type 3
WALKER-WARBURG SYNDROME WWSYND WWSYND, SYNDROME Walker-Warburg Syndrome
WILSON DISEASE WILSONDIS WILSONDIS, DISEASE Wilson Disease
WOLMAN DISEASE WOLDIS WOLMAN DISEASE Wolman Disease
ZELLWEGER SPECTRUM DISORDERS, PEX2-RELAT ZELLWEGE ZELLWEGER SPECTRUM DISORDERS, PEX2 RELAT Zellweger Spectrum Disorders, PEX2-Relat
ZELLWEGER SPECTRUM DISORDERS, PEX6-RELAT ZELLWEGE ZELLWEGER SPECTRUM DISORDERS, PEX6 RELAT Zellweger Spectrum Disorders, PEX6-Relat

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