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
3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIE 3PHOSPHODD 3 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
ABETALIPOPROTEINEMIA ABETALIPO ABETALIPOPROTEINEMIA
ACUTE INFANTILE LIVER FAILURE ACINFLIVFAIL ACUTE INFANTILE LIVER FAILURE
ADRENOLEUKODYSTROPHY ADRENOLEUK ADRENOLEUKODYSTROPHY
ALPHA-THALASSEMIA ATHALASS ALPHA THALASSEMIA
ALPORT SYNDROME, COL4A3-RELATED ALPORTSY ALPORT SYNDROME, COL4A3 RELATED
ASPARAGINE SYNTHETASE DEFICIENCY ASPARAGINESD ASPARAGINE SYNTHETASE DEFICIENCY
ATAXIA-TELANGIECTASIA ATAXIATELAN ATAXIA TELANGIECTASIA
AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP AUTISMSPEC AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP
AUTOIMMUNE POLYGLANDULAR SYNDROME AUTOPOLYSYN AUTOIMMUNE POLYGLANDULAR SYNDROME
BARDET-BIEDL SYNDROME, BBS2-RELATED BBS2 BARDET BIEDL SYNDROME, BBS2 RELATED
BATTEN DISEASE BATTEN BATTEN DISEASE
BETA-HEMOGLOBINOPATHIES BHEMOGLOB BETA HEMOGLOBINOPATHIES
CANAVAN DISEASE CANAVAN CANAVAN DISEASE
CARNITINE PALMITOYLTRANSFERASE II DEF CPTDEF CARNITINE PALMITOYLTRANSFERASE II DEF
CEREBROTENDINOUS XANTHOMATOSIS CERBROTEND CEREBROTENDINOUS XANTHOMATOSIS
CHOREOACANTHOCYTOSIS CHOREOACAN CHOREOACANTHOCYTOSIS
CHRONIC GRANULOMATOUS DISEASE, CYBA-REL CGD CHRONIC GRANULOMATOUS DISEASE, CYBA REL
CITRULLINEMIA, TYPE 1 CITRULLINEMI CITRULLINEMIA, TYPE 1
CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE CONGAMETRHO CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE
CONGENITAL DISORDER OF GLYCOSYLATION 1A CONDOGLYC1A CONGENITAL DISORDER OF GLYCOSYLATION 1A
CONGENITAL INSENSIVITY TO PAIN WITH ANHI CONGINSPWA CONGENITAL INSENSIVITY TO PAIN WITH ANHI
CONGENITAL MYASTHENIC SYNDROME, RAPSN-RE CONMYASYNRA CONGENITAL MYASTHENIC SYNDROME, RAPSN RE
CORTICOSTERONE METHYLOXIDASE DEFICIENCY CORTMETHDEF CORTICOSTERONE METHYLOXIDASE DEFICIENCY
COSTEFF SYNDROME COSTEFFSYN COSTEFF SYNDROME
CYSTIC FIBROSIS CYSTICFIB CYSTIC FIBROSIS
CYSTINOSIS CYSTINOSIS CYSTINOSIS
DEAFNESS, AUTOSOMAL RECESSIVE 77 DEAFAUTORE77 DEAFNESS, AUTOSOMAL RECESSIVE 77
DUCHENNE/BECKER MUSCULAR DYSTROPHY DUCHBECKMD DUCHENNE BECKER MUSCULAR DYSTROPHY
DYSKERATOSIS CONGENITA DYSKERCONG DYSKERATOSIS CONGENITA
EHLERS-DANLOS SYNDROME, TYPE VIIC EHLDANSYNT93 EHLERS DANLOS SYNDROME, TYPE VIIC
ENHANCED S-CONE SYNDROME ENHASCONSY ENHANCED S CONE SYNDROME
FACTOR IX DEFICIENCY FACTORIXDEF FACTOR IX DEFICIENCY
FACTOR XI DEFICIENCY FACTORXI FACTOR XI DEFICIENCY
FAMILIAL HYPERCHOLESTEROLEMIA, LDLR HYPCHFALDLR FAMILIAL HYPERCHOLESTEROLEMIA, LDLR
FAMILIAL MEDITERRANEAN FEVER FAMMED FAMILIAL MEDITERRANEAN FEVER
FANCONI ANEMIA, GROUP A FANCONIANGRA FANCONI ANEMIA, GROUP A
FANCONI ANEMIA, GROUP C FANCONIANGRC FANCONI ANEMIA, GROUP C
FRAGILE X SYNDROME FRAGILEX FRAGILE X SYNDROME
GALACTOSEMIA GALACTOSEMIA GALACTOSEMIA
GAUCHER DISEASE GAUCHER GAUCHER DISEASE
GLYCOGEN STORAGE DISEASE, TYPE 1A GLYCSD1A GLYCOGEN STORAGE DISEASE, TYPE 1A
GLYCOGEN STORAGE DISEASE, TYPE 2 NTRAGSDT2 GLYCOGEN STORAGE DISEASE, TYPE 2
GLYCOGEN STORAGE DISEASE, TYPE 3 NTRAGSDT3 GLYCOGEN STORAGE DISEASE, TYPE 3
GLYCOGEN STORAGE DISEASE, TYPE 4 NTRAGSDT4 GLYCOGEN STORAGE DISEASE, TYPE 4
GLYCOGEN STORAGE DISEASE, TYPE 5 NTRAGSDT5 GLYCOGEN STORAGE DISEASE, TYPE 5
GLYCOGEN STORAGE DISEASE, TYPE 7 NTRAGSDT7 GLYCOGEN STORAGE DISEASE, TYPE 7
HEREDITARY SPASTIC PARAPARESIS, TYPE 49 NTRAHSPT49 HEREDITARY SPASTIC PARAPARESIS, TYPE 49
HERMANSKY-PUDLAK SYNDROME, HPS3-RELATED NTRAHERPUD HERMANSKY PUDLAK SYNDROME, HPS3 RELATED
HOMOCYSTINURIA DUE TO DEFIC OF MTHFR HOMOCYSURD HOMOCYSTINURIA DUE TO DEFIC OF MTHFR
HORIZON 274 CARRIER SCREEN BLOOM SYNDROME HORBLOOMSYN HORIZON 274 CARRIER SCREEN BLOOM SYNDROME
HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA FAMDYSA HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA
HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM FAMHYPER HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM
HORIZON 274 CARRIER SCREEN SPINAL MUSCULAR ATROPHY SMA SMA, ATROPHY
INCLUSION BODY MYOPATHY 2 IBM2 INCLUSION BODY MYOPATHY 2
INFANTILE CEREBRAL AND CEREBELLAR ATROPH CEREBRAL INFANTILE CEREBRAL AND CEREBELLAR ATROPH
ISOVALERIC ACIDEMIA ISOVALERIC ISOVALERIC ACIDEMIA
JOUBERT SYNDROME 2 JOUBERTSY2 JOUBERT SYNDROME 2
LEBER CONGENITAL AMAUROSIS 2 LEBER LEBER CONGENITAL AMAUROSIS 2
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B MUSCDYST2B LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2B
LIPOAMIDE DEHYDROGENASE DEFICIENCY LDD LIPOAMIDE DEHYDROGENASE DEFICIENCY
MAPLE SYRUP URINE DISEASE, TYPE 1B MAPLEUR MAPLE SYRUP URINE DISEASE, TYPE 1B
MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEF ACYLCOA MEDIUM CHAIN ACYL COA DEHYDROGENASE DEF
MEGALENCEPHALIC LEUKOENCEPHALOPATHY MEGLEUKENCE MEGALENCEPHALIC LEUKOENCEPHALOPATHY
METACHROMATIC LEUKODYSTROPHY, ARSA METALEUKO METACHROMATIC LEUKODYSTROPHY, ARSA
METHYLMALONIC ACIDURIA AND HOMOCYST CBIC MEACHOCBLC MEACHOCBLC
MICROPHTHALMIA/ANOPHTHALMIA MICROPHANO MICROPHTHALMIA ANOPHTHALMIA
MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5 MITOCHONCOM MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5
MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6 MITOCHONCOM MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC MITOMYOSID MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC
MUCOLIPIDOSIS, TYPE IV MUCOLIPID MUCOLIPIDOSIS, TYPE IV
MUCOPOLYSACCHARIDOSIS, TYPE I MUCOPOLYSAC MUCOPOLYSACCHARIDOSIS, TYPE I
MULTIPLE SULPHATASE DEFICIENCY MULTSUPHDEF MULTIPLE SULPHATASE DEFICIENCY
MYONEUROGASTROINTESTINAL ENCEPHALOPATHY MYPGASINTENC MYONEUROGASTROINTESTINAL ENCEPHALOPATHY
NATERA FOOTNOTES FOOTNOTES NATERA FOOTNOTES
NEMALINE MYOPATHY NEMALINEMYO NEMALINEMYO, MYOPATHY
NIEMANN-PICK DISEASE, TYPES A/B NIEMPICKAB NIEMANN PICK DISEASE, TYPES A B Niemann-Pick Disease, Types A/B
NON-SYNDROMIC HEARING LOSS, GJB2-RELATED NONSYNDRHL NON SYNDROMIC HEARING LOSS, GJB2 RELATED
OMENN SYNDROME OMENSYN OMENN SYNDROME
ORNITHINE AMINOTRANSFERASE DEFICIENCY ORNITHAMDEF ORNITHINE AMINOTRANSFERASE DEFICIENCY
OSTEOPETROSIS, INFANTILE MALIGNANT OSTPETROSIS OSTEOPETROSIS, INFANTILE MALIGNANT
PANEL NOTES PANELNOTE PANEL NOTES
PDF REPORT PDF PDF, REPORT
PHENYLKETONURIA PHENYLKE PHENYLKETONURIA
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC POLYCYSKID POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC
PONTOCEREBELLAR HYPOPLASIA, RARS2-RELATE PONRARS2 PONTOCEREBELLAR HYPOPLASIA, RARS2 RELATE
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A PONTYPE1A PONTOCEREBELLAR HYPOPLASIA, TYPE 1A
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D PONTYPE2D PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
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
RENAL TUBULAR ACIDOSIS AND DEAFNESS RENTUAC RENAL TUBULAR ACIDOSIS AND DEAFNESS
REPORT NOTES REPORTNOTE REPORTNOTE, NOTES
REPORT SUMMARY REPRTSUM REPORT SUMMARY
RETINITIS PIGMENTOSA 25 RETPIG25 RETINITIS PIGMENTOSA 25
RETINITIS PIGMENTOSA 26 RETPIG26 RETINITIS PIGMENTOSA 26
RETINITIS PIGMENTOSA 28 RETPIG28 RETINITIS PIGMENTOSA 28
RETINITIS PIGMENTOSA 59 RETPIG59 RETINITIS PIGMENTOSA 59
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1 RHCHPUTY1 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1
SMITH-LEMLI-OPITZ SYNDROME SLOS SLOS, SYNDROME
TAY-SACHS DISEASE TAYSACHSDIS TAY SACHS DISEASE
TYROSINEMIA, TYPE I TYROTY1 TYROSINEMIA, TYPE I
USHER SYNDROME, TYPE 1F USHT1F USHER SYNDROME, TYPE 1F
USHER SYNDROME, TYPE 2A USHT2A USHER SYNDROME, TYPE 2A
USHER SYNDROME, TYPE 3 USHT3 USHER SYNDROME, TYPE 3
WALKER-WARBURG SYNDROME WWSYND WWSYND, SYNDROME
WILSON DISEASE WILSONDIS WILSONDIS, DISEASE
WOLMAN DISEASE WOLDIS WOLMAN DISEASE
ZELLWEGER SPECTRUM DISORDERS, PEX1-RELAT ZELLWEGE ZELLWEGER SPECTRUM DISORDERS, PEX1 RELAT
ZELLWEGER SPECTRUM DISORDERS, PEX2-RELAT ZELLWEGE ZELLWEGER SPECTRUM DISORDERS, PEX2 RELAT
ZELLWEGER SPECTRUM DISORDERS, PEX6-RELAT ZELLWEGE ZELLWEGER SPECTRUM DISORDERS, PEX6 RELAT