Couple contemplating carrier screening while walking on beach

In today’s multiethnic society, some genetic disorders previously thought to be confined to specific ethnic groups are increasingly being found in broader populations. NGS enables rapid carrier screening research across the broadest range of disorders, crossing ancestries and geographic regions, with a scalable, cost-effective solution.

Implement pan-ethnic, expanded carrier screening (ECS) research in your lab with a comprehensive solution from Thermo Fisher Scientific, including Ion Torrent CarrierSeq ECS kits and Carrier Reporter Software for the Ion GeneStudio S5 System. This next-generation sequencing (NGS)-based end-to-end solution includes rigorously designed targeted content for genetic analysis, optimized reagents for peak performance, and intuitive data analysis software tools for streamlined implementation, even in labs new to NGS.

Key benefits

  • Screen for a broad range of inherited disorders—a 420-gene panel targeting the full coding region of all genes enables the analysis of >36,000 non-benign ClinVar variants for single-nucleotide variants (SNVs), insertions and deletions (indels), and copy number variants (CNVs) by NGS
  • Consolidate stand-alone assays to improve lab efficiency—NGS enables simultaneous screening of hundreds of genes in one experiment, providing information on a broader range of targets with a faster turn-around time than traditional techniques such as PCR or Sanger sequencing
  • A complete end-to-end solution from a single vendor—CarrierSeq ECS kits include reagents for library preparation, template preparation, and sequencing, plus software for data analysis and reporting. Leveraging Ion AmpliSeq technology, these optimized assay kits streamline implementation and help ensure reliable and consistent results

Application Note: Accelerate comprehensive expanded carrier screening research in your lab
CarrierMax FMR1 Reagent Kitsfor detection of CGG repeats in the Fragile X Mental Retardation (FMR1) gene


Hear from CarrierSeq ECS users

Expanded carrier screening clinical research
with Ion Torrent CarrierSeq ECS

Bruno Coprerski
Head of IVF, Igenomix, Brazil

Rigorously designed content and consolidated assays

CarrierSeq ECS Kit reagent kit bundle and Carrier Reporter software

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Disease research areaGeneCNV target
Achalasia-addisonianism-alacrima syndromeAAASCNV
Harlequin ichthyosisABCA12CNV
Stargardt disease, type 1ABCA4CNV
Progressive familial intrahepatic cholestasis, type 2ABCB11CNV
Progressive familial intrahepatic cholestasis, type 3ABCB4CNV
Pseudoxanthoma elasticumABCC6CNV
Familial hyperinsulinism, ABCC8-relatedABCC8CNV
Adrenoleukodystrophy, X-linkedABCD1CNV
Mitochondrial complex I deficiency, ACAD9-relatedACAD9CNV
Medium chain acyl-CoA dehydrogenase deficiencyACADMCNV
Short chain acyl-CoA dehydrogenase deficiencyACADSCNV
Short/branched chain acyl-CoA dehydrogenase deficiencyACADSBCNV
Very long chain acyl-CoA dehydrogenase deficiencyACADVLCNV
Beta-ketothiolase deficiencyACAT1CNV
Acyl-CoA oxidase I deficiencyACOX1CNV
Combined malonic and methylmalonic aciduriaACSF3CNV
Severe combined immunodeficiency, ADA-relatedADACNV
Ehlers-Danlos syndrome, type VIICADAMTS2CNV
Bilateral frontoparietal polymicrogyriaADGRG1CNV
Glycogen storage disease, type III (Cori/Forbes)AGLCNV
Rhizomelic chondrodysplasia punctata, type 3AGPSCNV
Hyperoxaluria, primary, type 1AGXTCNV
Autoimmune polyendocrinopathy syndrome, type IAIRECNV
Sjögren-Larsson syndromeALDH3A2CNV
Pyridoxine-dependent epilepsyALDH7A1CNV
Hereditary fructose intoleranceALDOBCNV
Congenital disorder of glycosylation, type 1CALG6CNV
Alström syndromeALMS1CNV
Hypophosphatasia, ALPL-relatedALPLCNV
Persistent Müllerian duct syndrome, type 1AMHCNV
Persistent Müllerian duct syndrome, type 2AMHR2CNV
Glycine encephalopathy, AMT-relatedAMTCNV
Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (MEDNIK)AP1S1CNV
Familial nephrogenic diabetes insipidus, AQP2-relatedAQP2CNV
Androgen insensitivity syndrome, X-linkedARCNV
Metachromatic leukodystrophy, ARSA-relatedARSACNV
Mucopolysaccharidosis, type VI (Maroteaux-Lamy)ARSBCNV
Argininosuccinate lyase deficiencyASLCNV
Asparagine synthetase deficiencyASNSCNV
Canavan diseaseASPACNV
Citrullinemia, type 1ASS1CNV
Renal tubular acidosis and deafness, ATP6V1B1-relatedATP6V1B1CNV
Menkes syndrome, X-linkedATP7ACNV
Wilson diseaseATP7BCNV
Progressive familial intrahepatic cholestasis, type 1ATP8B1CNV
Alpha-thalassemia intellectual disability syndrome, X-linkedATRXCNV
Bardet-Biedl syndrome 1BBS1CNV
Bardet-Biedl syndrome 10BBS10CNV
Bardet-Biedl syndrome 12BBS12CNV
Bardet-Biedl syndrome 2BBS2CNV
Bardet-Biedl syndrome 4BBS4CNV+
Bardet-Biedl syndrome 9BBS9CNV
Pseudocholinesterase deficiencyBCHECNV
Maple syrup urine disease, type 1ABCKDHACNV
Maple syrup urine disease, type 1BBCKDHBCNV
Bloom syndromeBLMCNV
Fanconi anemia, group JBRIP1CNV
Bartter syndrome, type 4aBSNDCNV
Biotinidase deficiencyBTDCNV
Isolated growth hormone deficiency, type III, X-linkedBTKCNV
Desbuquois dysplasia 1CANT1CNV
Limb-girdle muscular dystrophy, type 2ACAPN3CNV
Catecholaminergic polymorphic ventricular tachycardiaCASQ2CNV
Homocystinuria, CBS-relatedCBSCNV
Mental retardation, autosomal recessive 3CC2D1ACNV+
Usher syndrome, type 1DCDH23CNV
Leber congenital amaurosis, type CEP290CEP290CNV
Retinitis pigmentosa 26CERKLCNV
Cystic fibrosisCFTRCNV+
Choroideremia, X-linkedCHMCNV
Congenital myasthenic syndrome, CHRNE-relatedCHRNECNV
Escobar syndromeCHRNGCNV
Bare lymphocyte syndrome, CIITA-relatedCIITACNV
Ceroid lipofuscinosis, neuronal, 3CLN3CNV+
Ceroid lipofuscinosis, neuronal, 5CLN5CNV
Ceroid lipofuscinosis, neuronal, 6CLN6CNV
Ceroid lipofuscinosis, neuronal, 8 (a.k.a. Northern epilepsy)CLN8CNV
Usher syndrome, type 3CLRN1CNV
Achromatopsia, CNGA3-relatedCNGA3CNV
Achromatopsia, CNGB3-relatedCNGB3CNV
Fibrochondrogenesis, type 2COL11A2CNV
Alport syndrome, COL4A3-relatedCOL4A3CNV
Alport syndrome, COL4A4-relatedCOL4A4CNV
Alport syndrome, X-linkedCOL4A5CNV
Dystrophic epidermolysis bullosa, COL7A1-relatedCOL7A1CNV
Carbamoyl phosphate synthetase I deficiencyCPS1CNV
Carnitine palmitoyltransferase IA deficiencyCPT1ACNV
Carnitine palmitoyltransferase II deficiencyCPT2CNV
Leber congenital amaurosis 8CRB1CNV
Papillon-Lefevre syndromeCTSCCNV
Ceroid lipofuscinosis, neuronal, 10 (CLN10 disease)CTSDCNV
Chronic granulomatous disease, CYBA-relatedCYBACNV
Chronic granulomatous disease, X-linkedCYBBCNV
Congenital adrenal hyperplasia, 11-beta-hydroxylase-deficientCYP11B1CNV
Corticosterone methyloxidase deficiencyCYP11B2CNV
Congenital adrenal hyperplasia, 17-alpha-hydroxylase deficiencyCYP17A1CNV
Aromatase deficiencyCYP19A1CNV
Primary congenital glaucomaCYP1B1CNV
Congenital adrenal hyperplasia, 21-hydroxylase-deficientCYP21A2SC
Cerebrotendinous xanthomatosisCYP27A1CNV
Vitamin D–dependent rickets, type 1ACYP27B1CNV
Maple syrup urine disease, type 2DBTCNV
Severe combined immunodeficiency, type athabaskanDCLRE1CCNV
Xeroderma pigmentosum group EDDB2CNV
Smith-Lemli-Opitz syndromeDHCR7CNV
Retinitis pigmentosa 59DHDDSCNV
Dyskeratosis congenita, X-linkedDKC1CNV
Dihydrolipoamide dehydrogenase deficiencyDLDCNV
Duchenne/Becker muscular dystrophyDMDCNV+
Ciliary dyskinesia, primary 3DNAH5CNV
Ciliary dyskinesia, primary 1DNAI1CNV
Ciliary dyskinesia, primary 9DNAI2CNV
Ciliary dyskinesia, primary, 16DNAL1CNV
Congenital myasthenic syndrome, DOK7-relatedDOK7CNV
Dihydropyrimidine dehydrogenase deficiencyDPYDCNV
Limb-girdle muscular dystrophy, type 2BDYSFCNV
Hypohidrotic ectodermal dysplasia, X-linkedEDACNV
Hypohidrotic ectodermal dysplasiaEDARCNV
Wolcott-Rallison syndromeEIF2AK3CNV
Leukoencephalopathy with vanishing white matterEIF2B5CNV
Emery-Dreifuss muscular dystrophy 1, X-linkedEMDCNV
Xeroderma pigmentosum, group DERCC2CNV
Xeroderma pigmentosum, group BERCC3CNV
Xeroderma pigmentosum, group FERCC4CNV
Xeroderma pigmentosum, group GERCC5CNV
Cockayne syndrome, type BERCC6CNV
Cockayne syndrome, type AERCC8CNV
Roberts syndromeESCO2CNV
Glutaric acidemia, type 2AETFACNV
Glutaric acidemia, type 2BETFBCNV
Glutaric acidemia, type 2CETFDHCNV
Ethylmalonic encephalopathyETHE1CNV
Ellis-van Creveld syndrome, EVC-relatedEVCCNV
Ellis-van Creveld syndrome, EVC2-relatedEVC2CNV
Pontocerebellar hypoplasia, type 1BEXOSC3CNV
Retinitis pigmentosa 25EYSCNV
Factor XI deficiencyF11CNV
Prothrombin deficiencyF2CNV
Hemophilia AF8CNV
Hemophilia BF9CNV
Tyrosinemia, type IFAHCNV
Retinitis pigmentosa 28FAM161ACNV
Fanconi anemia, group AFANCACNV+
Fanconi anemia, group CFANCCCNV+
Fanconi anemia, group GFANCGCNV
Fumarase deficiencyFHCNV
Limb-girdle muscular dystrophy, type 2IFKRPCNV
Walker-Warburg syndrome, FKTN-relatedFKTNCNV
Glycogen storage disease, type IAG6PCCNV
Glucose-6-phosphate dehydrogenase deficiencyG6PDCNV
Glycogen storage disease, type II (Pompe disease)GAACNV+
Krabbe diseaseGALCCNV+
Galactose epimerase deficiencyGALECNV
Galactokinase deficiency (galactosemia, type II)GALK1CNV
Mucopolysaccharidosis, type IVAGALNSCNV
Hyperphosphatemic familial tumoral calcinosisGALNT3CNV
Guanidinoacetate methyltransferase deficiencyGAMTCNV
Gaucher diseaseGBACNV
Glycogen storage disease, type IVGBE1CNV
Glutaric acidemia, type 1GCDHCNV
Dopa-responsive dystoniaGCH1CNV
Grebe syndromeGDF5CNV
Combined oxidative phosphorylation deficiency 1GFM1CNV
Isolated growth hormone deficiency, type IA/IIGH1CNV+
Isolated growth hormone deficiency, type IBGHRHRCNV
Charcot-Marie-Tooth disease with deafness, X-linkedGJB1CNV
Non-syndromic hearing loss (a.k.a. connexin 26)GJB2CNV+
Erythrokeratodermia variabilis et progressivaGJB3CNV
Non-syndromic hearing loss (a.k.a. connexin 30)GJB6CNV+
Fabry diseaseGLACNV+
Mucopolysaccharidosis, type IVB / GM1 gangliosidosisGLB1CNV
Glycine encephalopathy, GLDC-relatedGLDCCNV
Lethal congenital contracture syndrome 1GLE1CNV
Inclusion body myopathy 2GNECNV
Mucolipidosis III gammaGNPTGCNV
Mucopolysaccharidosis, type IIID (Sanfilippo D)GNSCNV
Geroderma osteodysplasticaGORABCNV
Bernard-Soulier syndrome, type A2GP1BACNV
Bernard-Soulier syndrome, type BGP1BBCNV
Bernard-Soulier syndrome, type CGP9CNV
Primary hyperoxaluria, type 2GRHPRCNV
Leber congenital amaurosis 1GUCY2DCNV
Mucopolysaccharidosis, type VIIGUSBCNV
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyHADHACNV
Trifunctional protein deficiencyHADHBCNV
Congenital neutropenia, HAX1-relatedHAX1CNV
Tay-Sachs diseaseHEXACNV+
Sandhoff diseaseHEXBCNV
Hemochromatosis, type 1HFECNV
Hemochromatosis, type 2AHFE2CNV
Mucopolysaccharidosis, type IIIC (Sanfilippo C)HGSNATCNV
Holocarboxylase synthetase deficiencyHLCSCNV
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiencyHMGCLCNV
Heme oxygenase-1 deficiencyHMOX1CNV
Primary hyperoxaluria, type 3HOGA1CNV
Tyrosinemia, type 3HPDCNV
Hermansky-Pudlak syndrome 1HPS1CNV
Hermansky-Pudlak syndrome 3HPS3CNV
Hermansky-Pudlak syndrome 4HPS4CNV
17-beta hydroxysteroid dehydrogenase 3 deficiencyHSD17B3CNV
D-bifunctional protein deficiencyHSD17B4CNV
3-beta-hydroxysteroid dehydrogenase type II deficiencyHSD3B2CNV
Hydrolethalus syndromeHYLS1CNV
Mucopolysaccharidosis, type II (Hunter syndrome)IDSCNV
Mucopolysaccharidosis, type I (Hurler syndrome)IDUACNV
Dysautonomia, familial (IKBKAP or ELP1)IKBKAPCNV
Severe combined immunodeficiency, X-linkedIL2RGCNV
Glanzmann thrombastheniaITGB3CNV+
Isovaleric acidemiaIVDCNV
Congenital hyperinsulinism, KCNJ11-relatedKCNJ11CNV
LAMA2-related muscular dystrophyLAMA2CNV
Herlitz junctional epidermolysis bullosa, LAMA3-relatedLAMA3CNV
Herlitz junctional epidermolysis bullosa, LAMB3-relatedLAMB3CNV
Herlitz junctional epidermolysis bullosa, LAMC2-relatedLAMC2CNV
Leber congenital amaurosis, type LCA5LCA5CNV
Familial hypercholesterolemia, LDLR-relatedLDLRCNV
Familial hypercholesterolemia, LDLRAP1-relatedLDLRAP1CNV
Leydig cell hypoplasiaLHCGRCNV
Stuve-Wiedemann syndromeLIFRCNV
Lysosomal acid lipase deficiencyLIPACNV
Woolly hair/hypotrichosis syndromeLIPHCNV
Deafness, autosomal recessive 77LOXHD1CNV
Lipoprotein lipase deficiencyLPLCNV
Leigh syndrome, French-Canadian typeLRPPRCCNV
Chediak-Higashi syndromeLYSTCNV
3-methylcrotonyl-CoA carboxylase 1 deficiencyMCCC1CNV
3-methylcrotonyl-CoA carboxylase 2 deficiencyMCCC2CNV
Mucolipidosis, type IVMCOLN1CNV+
Microcephaly, postnatal progressive, with seizures and brain atrophyMED17CNV
Familial Mediterranean feverMEFVCNV
Spondylothoracic dysostosis, MESP2-relatedMESP2CNV
Ceroid lipofuscinosis, neuronal, 7MFSD8CNV
Bardet-Biedl syndrome 6MKKSCNV
Meckel-Gruber syndrome, type 1MKS1CNV
Megalencephalic leukoencephalopathy with subcortical cystsMLC1CNV
Malonyl-CoA decarboxylase deficiencyMLYCDCNV
Methylmalonic aciduria, MMAA-relatedMMAACNV
Methylmalonic aciduria, MMAB-relatedMMABCNV
Methylmalonic aciduria and homocystinuria, type cblCMMACHCCNV
Methylmalonic aciduria and homocystinuria, type cblDMMADHCCNV
Molybdenum cofactor deficiencyMOCS1CNV
Congenital disorder of glycosylation, type 1BMPICNV
Congenital amegakaryocytic thrombocytopeniaMPLCNV
Hepatocerebral mitochondrial DNA depletion syndrome, MPV17-relatedMPV17CNV
Ataxia-telangiectasia-like disorder 1MRE11CNV
Homocystinuria due to deficiency of MTHFRMTHFRCNV
Myotubular myopathy, X-linkedMTM1CNV
Homocystinuria, type cblEMTRRCNV
Methylmalonic aciduria, type mut(0)MUTCNV
Deafness, autosomal recessive, 3MYO15ACNV
Usher syndrome, type 1BMYO7ACNV
Mucopolysaccharidosis, type IIIB (Sanfilippo B)NAGLUCNV
N-acetylglutamate synthase deficiencyNAGSCNV
Nijmegen breakage syndromeNBNCNV
Charcot-Marie-Tooth disease type 4DNDRG1CNV
Mitochondrial complex I deficiency, NDUFAF5-relatedNDUFAF5CNV
Mitochondrial complex I deficiencyNDUFS4CNV
Mitochondrial complex I deficiency, NDUFS6-relatedNDUFS6CNV
Nemaline myopathy, NEB-relatedNEBCNV+
Hydatidiform mole, recurrentNLRP7CNV
Niemann-Pick disease, type C1/DNPC1CNV
Niemann-Pick disease, type C2NPC2CNV
Juvenile nephronophthisisNPHP1CNV
Congenital Finnish nephrosisNPHS1CNV
Steroid-resistant nephrotic syndromeNPHS2CNV
Congenital adrenal hypoplasia, X-linkedNR0B1CNV
Enhanced S-cone syndromeNR2E3CNV
Congenital insensitivity to pain with anhidrosis (CIPA)NTRK1CNV
Ornithine aminotransferase deficiencyOATCNV
Lowe syndrome, X-linkedOCRLCNV
Costeff syndrome (3-methylglutaconic aciduria, type 3)OPA3CNV
Ornithine transcarbamylase deficiencyOTCCNV
Pantothenate kinase-associated neurodegenerationPANK2CNV
Pyruvate carboxylase deficiencyPCCNV
Propionic acidemia, PCCA-relatedPCCACNV
Propionic acidemia, PCCB-relatedPCCBCNV
Usher syndrome, type 1FPCDH15CNV+
Pyruvate dehydrogenase deficiency, X-linkedPDHA1CNV
Pyruvate dehydrogenase deficiency, PDHB-relatedPDHBCNV
Prolidase deficiencyPEPDCNV
Cytochrome-c oxidase deficiencyPET100CNV
Peroxisome biogenesis disorder 1A (Zellweger)PEX1CNV
Peroxisome biogenesis disorder 6A (Zellweger)PEX10CNV
Peroxisome biogenesis disorder 3A (Zellweger)PEX12CNV
Peroxisome biogenesis disorder 5A (Zellweger)PEX2CNV
Peroxisome biogenesis disorder 4A (Zellweger)PEX6CNV
Rhizomelic chondrodysplasia punctata, type 1PEX7CNV
Glycogen storage disease, type VIIPFKMCNV
Phosphoglycerate dehydrogenase deficiencyPHGDHCNV
Multiple congenital anomalies-hypotonia-seizures syndrome 1PIGNCNV
Polycystic kidney disease, autosomal recessivePKHD1CNV
Infantile neuroaxonal dystrophy 1PLA2G6CNV
Congenital disorder of glycosylation, type 1A, PMM2-relatedPMM2CNV
Pyridoxal 5ʹ-phosphate-dependent epilepsyPNPOCNV
POLG-related disordersPOLGCNV
Xeroderma pigmentosum variantPOLHCNV
Muscle-eye-brain disease, POMGNT1-relatedPOMGNT1CNV
Cytochrome P450 oxidoreductase deficiencyPORCNV
Ceroid lipofuscinosis, neuronal, 1PPT1CNV
Myasthenic syndrome, congenital, 22PREPLCNV+
Combined pituitary hormone deficiency 2PROP1CNV
Arts syndrome, X-linkedPRPS1CNV
Metachromatic leukodystrophy, PSAP-relatedPSAPCNV
6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiencyPTSCNV
Mitochondrial myopathy and sideroblastic anemia (MLASA1)PUS1CNV
Glycogen storage disease, type V (McArdle disease)PYGMCNV
Carpenter syndromeRAB23CNV
Omenn syndrome, RAG1-relatedRAG1CNV
Omenn syndrome, RAG2-relatedRAG2CNV
Congenital myasthenic syndrome, RAPSN-relatedRAPSNCNV
Pontocerebellar hypoplasia, type 1 and 6, RARS2-relatedRARS2CNV
Leber congenital amaurosis, type RDH12RDH12CNV
Retinal dystrophies, RLBP1-associatedRLBP1CNV
Cartilage-hair hypoplasiaRMRPCNV
Aicardi-Goutieres syndrome, RNASEH2C-relatedRNASEH2CCNV
Leber congenital amaurosis 2RPE65CNV
Ciliopathies, RPGRIP1L-relatedRPGRIP1LCNV
Juvenile retinoschisis, X-linkedRS1CNV
Dyskeratosis congenita, RTEL1-relatedRTEL1CNV
Autosomal recessive spastic ataxia of Charlevoix-SaguenaySACSCNV
Aicardi-Goutires syndromeSAMHD1CNV+
Shwachman-Diamond syndromeSBDSCNV
Pontocerebellar hypoplasia, type 2DSEPSECSCNV
Alpha-1-antitrypsin deficiencySERPINA1CNV
Limb-girdle muscular dystrophy, type 2DSGCACNV
Limb-girdle muscular dystrophy, type 2ESGCBCNV
Limb-girdle muscular dystrophy, type 2FSGCDCNV
Limb-girdle muscular dystrophy, type 2CSGCGCNV
Mucopolysaccharidosis, type IIIA (Sanfilippo A)SGSHCNV
Gitelman syndromeSLC12A3CNV
Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome)SLC12A6CNV
Salla diseaseSLC17A5CNV
Megaloblastic anemia syndromeSLC19A2CNV
Carnitine deficiencySLC22A5CNV
Citrullinemia, type IISLC25A13CNV
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndromeSLC25A15CNV
Carnitine-acylcarnitine translocase deficiencySLC25A20CNV
Achondrogenesis, type 1BSLC26A2CNV
Congenital chloride diarrheaSLC26A3CNV
Pendred syndromeSLC26A4CNV
Autism spectrum, epilepsy, and arthrogryposisSLC35A3CNV
Glycogen storage disease, type IBSLC37A4CNV
Acrodermatitis enteropathicaSLC39A4CNV
Cystinuria, type ASLC3A1CNV+
Oculocutaneous albinism, type 4SLC45A2CNV
Corneal dystrophy and perceptive deafnessSLC4A11CNV
Creatine transporter defect (cerebral creatine deficiency syndrome 1, X-linked)SLC6A8CNV
Lysinuric protein intoleranceSLC7A7CNV
Cystinuria, type BSLC7A9CNV
Schimke immunoosseous dysplasiaSMARCAL1CNV
Spinal muscular atrophySMN1SC
Niemann-Pick disease, types A/BSMPD1CNV
5-alpha reductase deficiencySRD5A2CNV
GM3 synthase deficiencyST3GAL5CNV
Lipoid congenital adrenal hyperplasiaSTARCNV
Deafness, autosomal recessive 16STRCCNV+
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)SUCLA2CNV
Multiple sulfatase deficiencySUMF1CNV
Leigh syndromeSURF1CNV
Tyrosinemia, type IITATCNV
Osteopetrosis, infantile malignant, TCIRG1-relatedTCIRG1CNV
Hereditary spastic paraparesis, type 49TECPR2CNV
Hemochromatosis, type 3, TFR2-relatedTFR2CNV
Lamellar ichthyosis, type 1TGM1CNV
Segawa syndrome, TH-relatedTHCNV
Deafness, autosomal dominant 36, autosomal recessive 7TMC1CNV
Joubert syndrome 2/Meckel syndrome 2TMEM216CNV
Congenital hypothyroidismTPOCNV
Ceroid lipofuscinosis, neuronal, 2TPP1CNV
Aicardi-Goutieres syndrome, TREX1-relatedTREX1CNV
Bardet-Biedl syndrome 11TRIM32CNV
Mulibrey nanism syndromeTRIM37CNV
Acute infantile liver failure, TRMU-relatedTRMUCNV
Pontocerebellar hypoplasiaTSEN54CNV
Combined oxidative phosphorylation deficiency 3TSFMCNV
Congenital hypothyroidismTSHBCNV
Hypothyroidism, congenital, nongoitrous, 1TSHRCNV
Tricho-hepato-enteric syndromeTTC37CNV
Familial dilated cardiomyopathyTTNCNV
Ataxia with vitamin E deficiencyTTPACNV
Myoneurogastrointestinal encephalopathy (MNGIE)TYMPCNV
Oculocutaneous albinism, type 1TYRCNV
Oculocutaneous albinism, type 3TYRP1CNV
Crigler-Najjar syndromeUGT1A1CNV
Beta-ureidopropionase deficiencyUPB1CNV
Usher syndrome, type 1CUSH1CCNV
Usher syndrome, type 2AUSH2ACNV+
Cohen syndromeVPS13BCNV
Congenital neutropenia, VPS45-relatedVPS45CNV
Pontocerebellar hypoplasia, type 2EVPS53CNV
Pontocerebellar hypoplasia, type 1AVRK1CNV
Microphthalmia/Anophthalmia, VSX2-relatedVSX2CNV
Von Willebrand diseaseVWFCNV
Wiskott-Aldrich syndrome, X-linkedWASCNV
Progressive pseudorheumatoid dysplasiaWISP3CNV
Odonto-onycho-dermal dysplasia/Schopf-Schulz-Passarge syndromeWNT10ACNV
Werner syndromeWRNCNV
Xeroderma pigmentosum group AXPACNV
Xeroderma pigmentosum group CXPCCNV
Spastic paraplegia type 15ZFYVE26CNV

Streamlined implementation and workflow

CarrierSeq ECS Kit reagents are optimized to work together out of the box (Figure 2). Using the Ion Chef and Ion GeneStudio S5 systems for template preparation and sequencing, plus a suite of software programs for data analysis, CarrierSeq ECS Kits offer a seamless workflow for carrier screening research.

Illustration of the simple and streamlined Ion Torrent Next Generation Sequencing Workflow

Figure 2. Streamlined workflow for 32 samples—fast turnaround from genomic DNA to variant calls.

Ion Torrent CarrierSeq ECS Panel based on Ion AmpliSeq technology.


Total time: 8 hours (32 samples)
Hands-on time: 120 min

Automated with pre-packaged, ready-to-use reagent cartridges.

Total time: 14.5 hours
Hands-on time: 15 min

Pre-packaged reagent cartridges for fast, easy set-up. Choice of two Ion Chip kits, for scalable throughput needs.

Total time: 6 hours
Sequencing per chip: 2.75 hours
Hands-on time:15 min

Customizable analysis and reporting options, to quickly translate data into results.

Total time: 4–16.5 hours (depending on instrument compute)
Total time: 2 hours (Ion Reporter)
Hands-on time: 5 min

For library preparation, CarrierSeq ECS kits use the globally recognized, superior Ion AmpliSeq technology, a fast and simple amplicon-based enrichment method for targeted NGS. This proprietary, proven technology combines thousands of primer pairs into a single PCR reaction for robust and consistent library preparation.

CarrierSeq ECS kits are available in 4 or 16 samples per chip (8 or 32 samples per run). Variable throughput on a single system streamlines the path to increasing carrier screening research or transitioning from outsourcing to an in-house platform.

Straightforward and powerful data analysis

Carrier Reporter Software automatically classifies carrier variants based on pathogenicity according to ClinVar, proprietary databases, and the American College of Medical Genetics and Genomics (ACMG) predicted pathogenicity guidelines. It also enables users to customize variant classifications based on user-defined guidance. This intuitive software interface presents: sequencing QC information, carrier results with notification icons to streamline the review process, and reference web links to view supporting variant calling evidence. Additionally, Carrier Reporter customization enables the analysis and reporting of only the variants and genes of interest.


Figure 3. Straightforward bioinformatics workflow.

Torrent Suite Software

Plan, monitor, and track your runs within a browser, while reviewing the quality and accuracy of your sequencing run.

Ion Reporter Software

Identify variants such as SNVs, indels, and CNVs with preconfigured and customizable workflows, providing flexibility for users of any experience level.

Carrier Reporter Software

Classify variants according to pathogenicity based on ACMG and ClinVar guidelines. Customize analysis and reporting at variant and gene levels.

Expanded Carrier Screening Kit & Panel Ordering Information

For Research Use Only. Not for use in diagnostic procedures.