Horizon 106 Carrier Screen Build info

Synonyms

  • HORIZON 106 CARRIER SCREEN
  • HORIZON106
  • NATERA
  • LAB14344

Short 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 Type

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)

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

Results
Component Name Base Name Common Name External Name
LEBER CONGENITAL AMAUROSIS 2 LEBER LEBER CONGENITAL AMAUROSIS 2 Leber Congenital Amaurosis 2
RETINITIS PIGMENTOSA 59 RETPIG59 RETINITIS PIGMENTOSA 59
OSTEOPETROSIS, INFANTILE MALIGNANT OSTPETROSIS OSTEOPETROSIS, INFANTILE MALIGNANT
NON-SYNDROMIC HEARING LOSS, GJB2-RELATED NONSYNDRHL NON SYNDROMIC HEARING LOSS, GJB2 RELATED Non-Syndromic Hearing Loss, Gjb2-Related
HEREDITARY SPASTIC PARAPARESIS, TYPE 49 NTRAHSPT49 HEREDITARY SPASTIC PARAPARESIS, TYPE 49
FACTOR IX DEFICIENCY FACTORIXDEF FACTOR IX DEFICIENCY
PRIMARY CILIARY DYSKINESIA DNAH5-RELATED PCDDNAH5 PRIMARY CILIARY DYSKINESIA, DNAH5 RELATED Primary Ciliary Dyskinesia, DNAH5-Related
MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6 MITOCHONCOM MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6 Mitochondrial Complex 1 Defic Ndufs6
RETINITIS PIGMENTOSA 25 RETPIG25 RETINITIS PIGMENTOSA 25
BARDET-BIEDL SYNDROME, BBS2-RELATED BBS2 BARDET BIEDL SYNDROME, BBS2 RELATED Bardet-Biedl Syndrome, Bbs2-Related
GLYCOGEN STORAGE DISEASE, TYPE 5 NTRAGSDT5 GLYCOGEN STORAGE DISEASE, TYPE 5 Glycogen Storage Disease, Type 5
DYSKERATOSIS CONGENITA DYSKERCONG DYSKERATOSIS CONGENITA
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B MUSCDYST2B LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2B
FANCONI ANEMIA, GROUP A FANCONIANGRA FANCONI ANEMIA, GROUP A
FAMILIAL HYPERCHOLESTEROLEMIA, LDLR HYPCHFALDLR FAMILIAL HYPERCHOLESTEROLEMIA, LDLR Familial Hypercholesterolemia, Ldlr
NIEMANN-PICK DISEASE, TYPES A/B NIEMPICKAB NIEMANN PICK DISEASE, TYPES A B Niemann-Pick Disease, Types A/B
AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP AUTISMSPEC AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP Autism Spectrum, Epilepsy And Arthrogryp
SMITH-LEMLI-OPITZ SYNDROME SLOS SLOS, SYNDROME Smith-Lemli-Opitz Syndrome
GLYCOGEN STORAGE DISEASE, TYPE 2 NTRAGSDT2 GLYCOGEN STORAGE DISEASE, TYPE 2 Glycogen Storage Disease, Type 2
NATERA FOOTNOTES FOOTNOTES NATERA FOOTNOTES Natera Footnotes
COSTEFF SYNDROME COSTEFFSYN COSTEFF SYNDROME Costeff Syndrome
CONGENITAL INSENSIVITY TO PAIN WITH ANHI CONGINSPWA CONGENITAL INSENSIVITY TO PAIN WITH ANHI Congenital Insensivity To Pain With Anhi
ZELLWEGER SPECTRUM DISORDERS, PEX6-RELAT ZELLWEGE ZELLWEGER SPECTRUM DISORDERS, PEX6 RELAT Zellweger Spectrum Disorders, Pex6-Relat
WALKER-WARBURG SYNDROME WWSYND WWSYND, SYNDROME Walker-Warburg Syndrome
BETA-HEMOGLOBINOPATHIES BHEMOGLOB BETA HEMOGLOBINOPATHIES Beta-Hemoglobinopathies
ZELLWEGER SPECTRUM DISORDERS, PEX2-RELAT ZELLWEGE ZELLWEGER SPECTRUM DISORDERS, PEX2 RELAT Zellweger Spectrum Disorders, Pex2-Relat
CHOREOACANTHOCYTOSIS CHOREOACAN CHOREOACANTHOCYTOSIS
MUCOLIPIDOSIS, TYPE IV MUCOLIPID MUCOLIPIDOSIS, TYPE IV
USHER SYNDROME, TYPE 2A USHT2A USHER SYNDROME, TYPE 2A
GALACTOSEMIA GALACTOSEMIA GALACTOSEMIA
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D PONTYPE2D PONTOCEREBELLAR HYPOPLASIA, TYPE 2D Pontocerebellar Hypoplasia, Type 2D
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A PONTYPE1A PONTOCEREBELLAR HYPOPLASIA, TYPE 1A
REPORT SUMMARY REPRTSUM REPORT SUMMARY
MICROPHTHALMIA/ANOPHTHALMIA MICROPHANO MICROPHTHALMIA ANOPHTHALMIA Microphthalmia/Anophthalmia
HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM FAMHYPER HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM Horizon 274 Carrier Screen Familial Hyperinsulinism
NEMALINE MYOPATHY NEMALINEMYO NEMALINEMYO, MYOPATHY Nemaline Myopathy
WILSON DISEASE WILSONDIS WILSONDIS, DISEASE Wilson Disease
EHLERS-DANLOS SYNDROME, TYPE VIIC EHLDANSYNT93 EHLERS DANLOS SYNDROME, TYPE VIIC Ehlers-Danlos Syndrome, Type Viic
FANCONI ANEMIA, GROUP C FANCONIANGRC FANCONI ANEMIA, GROUP C
FRAGILE X SYNDROME FRAGILEX FRAGILE X SYNDROME
GLYCOGEN STORAGE DISEASE, TYPE 4 NTRAGSDT4 GLYCOGEN STORAGE DISEASE, TYPE 4
MYONEUROGASTROINTESTINAL ENCEPHALOPATHY MYPGASINTENC MYONEUROGASTROINTESTINAL ENCEPHALOPATHY Myoneurogastrointestinal Encephalopathy
CYSTINOSIS CYSTINOSIS CYSTINOSIS
JOUBERT SYNDROME 2 JOUBERTSY2 JOUBERT SYNDROME 2
DUCHENNE/BECKER MUSCULAR DYSTROPHY DUCHBECKMD DUCHENNE BECKER MUSCULAR DYSTROPHY Duchenne/Becker Muscular Dystrophy
ENHANCED S-CONE SYNDROME ENHASCONSY ENHANCED S CONE SYNDROME Enhanced S-Cone Syndrome
CYSTIC FIBROSIS CYSTICFIB CYSTIC FIBROSIS
ALPHA-THALASSEMIA ATHALASS ALPHA THALASSEMIA
GAUCHER DISEASE GAUCHER GAUCHER DISEASE
MAPLE SYRUP URINE DISEASE, TYPE 1B MAPLEUR MAPLE SYRUP URINE DISEASE, TYPE 1B
TYROSINEMIA, TYPE I TYROTY1 TYROSINEMIA, TYPE I
CONGENITAL MYASTHENIC SYNDROME, RAPSN-RE CONMYASYNRA CONGENITAL MYASTHENIC SYNDROME, RAPSN RE Congenital Myasthenic Syndrome, Rapsn-Re
MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5 MITOCHONCOM MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5 Mitochondrial Complex 1 Defic Ndufaf5
ACUTE INFANTILE LIVER FAILURE ACINFLIVFAIL ACUTE INFANTILE LIVER FAILURE
FAMILIAL MEDITERRANEAN FEVER FAMMED FAMILIAL MEDITERRANEAN FEVER
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC MITOMYOSID MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC Mitochondrial Myopathy And Sideroblastic
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1 RHCHPUTY1 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1 Rhizomelic Chondrodysplasia Punctata 1
HORIZON 274 CARRIER SCREEN BLOOM SYNDROME HORBLOOMSYN HORIZON 274 CARRIER SCREEN BLOOM SYNDROME Horizon 274 Carrier Screen Bloom Syndrome
USHER SYNDROME, TYPE 1F USHT1F USHER SYNDROME, TYPE 1F
MULTIPLE SULPHATASE DEFICIENCY MULTSUPHDEF MULTIPLE SULPHATASE DEFICIENCY
ADRENOLEUKODYSTROPHY ADRENOLEUK ADRENOLEUKODYSTROPHY
CORTICOSTERONE METHYLOXIDASE DEFICIENCY CORTMETHDEF CORTICOSTERONE METHYLOXIDASE DEFICIENCY
RETINITIS PIGMENTOSA 26 RETPIG26 RETINITIS PIGMENTOSA 26
ZELLWEGER SPECTRUM DISORDERS, PEX1-RELAT ZELLWEGE ZELLWEGER SPECTRUM DISORDERS, PEX1 RELAT Zellweger Spectrum Disorders, Pex1-Relat
HORIZON 274 CARRIER SCREEN SPINAL MUSCULAR ATROPHY SMA SMA, ATROPHY
BATTEN DISEASE BATTEN BATTEN DISEASE Batten Disease
MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEF ACYLCOA MEDIUM CHAIN ACYL COA DEHYDROGENASE DEF Medium Chain Acyl-Coa Dehydrogenase Def
RENAL TUBULAR ACIDOSIS AND DEAFNESS RENTUAC RENAL TUBULAR ACIDOSIS AND DEAFNESS Renal Tubular Acidosis And Deafness
ALPORT SYNDROME, COL4A3-RELATED ALPORTSY ALPORT SYNDROME, COL4A3 RELATED Alport Syndrome, Col4A3-Related
ABETALIPOPROTEINEMIA ABETALIPO ABETALIPOPROTEINEMIA
INCLUSION BODY MYOPATHY 2 IBM2 INCLUSION BODY MYOPATHY 2
MEGALENCEPHALIC LEUKOENCEPHALOPATHY MEGLEUKENCE MEGALENCEPHALIC LEUKOENCEPHALOPATHY Megalencephalic Leukoencephalopathy
LIPOAMIDE DEHYDROGENASE DEFICIENCY LDD LIPOAMIDE DEHYDROGENASE DEFICIENCY
CITRULLINEMIA, TYPE 1 CITRULLINEMI CITRULLINEMIA, TYPE 1 Citrullinemia, Type 1
HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA FAMDYSA HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA Horizon 274 Carrier Screen Familial Dysautonomia
GLYCOGEN STORAGE DISEASE, TYPE 1A GLYCSD1A GLYCOGEN STORAGE DISEASE, TYPE 1A
DEAFNESS, AUTOSOMAL RECESSIVE 77 DEAFAUTORE77 DEAFNESS, AUTOSOMAL RECESSIVE 77
3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIE 3PHOSPHODD 3 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY 3-Phosphoglycerate Dehydrogenase Deficie
METACHROMATIC LEUKODYSTROPHY, ARSA METALEUKO METACHROMATIC LEUKODYSTROPHY, ARSA Metachromatic Leukodystrophy, Arsa
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC POLYCYSKID POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC Polycystic Kidney Disease, Autosomal Rec
CHRONIC GRANULOMATOUS DISEASE, CYBA-REL CGD CHRONIC GRANULOMATOUS DISEASE, CYBA REL Chronic Granulomatous Disease, Cyba-Rel
ORNITHINE AMINOTRANSFERASE DEFICIENCY ORNITHAMDEF ORNITHINE AMINOTRANSFERASE DEFICIENCY
METHYLMALONIC ACIDURIA AND HOMOCYST CBIC MEACHOCBLC MEACHOCBLC
GLYCOGEN STORAGE DISEASE, TYPE 3 NTRAGSDT3 GLYCOGEN STORAGE DISEASE, TYPE 3
CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE CONGAMETRHO CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE Congenital Amegakaryocytic Thrombocytope
ATAXIA-TELANGIECTASIA ATAXIATELAN ATAXIA TELANGIECTASIA Ataxia-Telangiectasia
TAY-SACHS DISEASE TAYSACHSDIS TAY SACHS DISEASE Tay-Sachs Disease
CANAVAN DISEASE CANAVAN CANAVAN DISEASE
MUCOPOLYSACCHARIDOSIS, TYPE I MUCOPOLYSAC MUCOPOLYSACCHARIDOSIS, TYPE I Mucopolysaccharidosis, Type I
FACTOR XI DEFICIENCY FACTORXI FACTOR XI DEFICIENCY
ISOVALERIC ACIDEMIA ISOVALERIC ISOVALERIC ACIDEMIA
PRIMARY CILIARY DYSKINESIA DNAI1-RELATED PCDDNAI1 PRIMARY CILIARY DYSKINESIA, DNAI1 RELATED Primary Ciliary Dyskinesia, DNAI1-Related
CONGENITAL DISORDER OF GLYCOSYLATION 1A CONDOGLYC1A CONGENITAL DISORDER OF GLYCOSYLATION 1A Congenital Disorder Of Glycosylation 1A
AUTOIMMUNE POLYGLANDULAR SYNDROME AUTOPOLYSYN AUTOIMMUNE POLYGLANDULAR SYNDROME Autoimmune Polyglandular Syndrome
PONTOCEREBELLAR HYPOPLASIA, RARS2-RELATE PONRARS2 PONTOCEREBELLAR HYPOPLASIA, RARS2 RELATE Pontocerebellar Hypoplasia, Rars2-Relate
OMENN SYNDROME OMENSYN OMENN SYNDROME
WOLMAN DISEASE WOLDIS WOLMAN DISEASE
CEREBROTENDINOUS XANTHOMATOSIS CERBROTEND CEREBROTENDINOUS XANTHOMATOSIS
HOMOCYSTINURIA DUE TO DEFIC OF MTHFR HOMOCYSURD HOMOCYSTINURIA DUE TO DEFIC OF MTHFR Homocystinuria Due To Defic Of Mthfr
PHENYLKETONURIA PHENYLKE PHENYLKETONURIA
PRIMARY HYPEROXALURIA, TYPE 3 PRHYTY3 PRIMARY HYPEROXALURIA, TYPE 3
PRIMARY CILIARY DYSKINESIA DNAI2-RELATED PCDDNAI2 PRIMARY CILIARY DYSKINESIA, DNAI2 RELATED Primary Ciliary Dyskinesia, DNAI2-Related
ASPARAGINE SYNTHETASE DEFICIENCY ASPARAGINESD ASPARAGINE SYNTHETASE DEFICIENCY
GLYCOGEN STORAGE DISEASE, TYPE 7 NTRAGSDT7 GLYCOGEN STORAGE DISEASE, TYPE 7 Glycogen Storage Disease, Type 7
USHER SYNDROME, TYPE 3 USHT3 USHER SYNDROME, TYPE 3
RETINITIS PIGMENTOSA 28 RETPIG28 RETINITIS PIGMENTOSA 28
INFANTILE CEREBRAL AND CEREBELLAR ATROPH CEREBRAL INFANTILE CEREBRAL AND CEREBELLAR ATROPH Infantile Cerebral And Cerebellar Atroph
PDF REPORT PDF PDF, REPORT Pdf Report
REPORT NOTES REPORTNOTE REPORTNOTE, NOTES Report Notes
PANEL NOTES PANELNOTE PANEL NOTES
HERMANSKY-PUDLAK SYNDROME, HPS3-RELATED NTRAHERPUD HERMANSKY PUDLAK SYNDROME, HPS3 RELATED Hermansky-Pudlak Syndrome, Hps3-Related
CARNITINE PALMITOYLTRANSFERASE II DEF CPTDEF CARNITINE PALMITOYLTRANSFERASE II DEF Carnitine Palmitoyltransferase Ii Def