Couple contemplating carrier screening while walking on beach

Implementing pan-ethnic, expanded carrier screening (ECS) research in your lab is easier than ever with the 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 simple implementation without the need for expert-level bioinformatics resources.

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 highly accurate and scalable, cost-effective solution.

Key benefits

  • Increase carrier status detection rates 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—Difficult-to-detect targets, due to pseudogenes (GBA and GBAP1 for Gaucher disease), paralogues (SMN1 and SMN2 for spinal muscular atrophy), or within a locus (HBA1 and HBA2 for alpha thalassemia), are consolidated into a single NGS assay.
  • Simplify adoption and implementation in your lab with this end-to-end solution—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: Analytic verification of CarrierSeq ECS
CarrierMax FMR1 Reagent Kits for detection of CGG repeats in the Fragile X Mental Retardation (FMR1) gene


Rigorously designed content and consolidated assays

CarrierSeq ECS Kit reagent kit bundle and Carrier Reporter software

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Disease research area Gene CNV target
Achalasia-addisonianism-alacrima syndrome AAAS CNV
Harlequin ichthyosis ABCA12 CNV
Stargardt disease, type 1 ABCA4 CNV
Progressive familial intrahepatic cholestasis, type 2 ABCB11 CNV
Progressive familial intrahepatic cholestasis, type 3 ABCB4 CNV
Pseudoxanthoma elasticum ABCC6 CNV
Familial hyperinsulinism, ABCC8-related ABCC8 CNV
Adrenoleukodystrophy, X-linked ABCD1 CNV
Mitochondrial complex I deficiency, ACAD9-related ACAD9 CNV
Medium chain acyl-CoA dehydrogenase deficiency ACADM CNV
Short chain acyl-CoA dehydrogenase deficiency ACADS CNV
Short/branched chain acyl-CoA dehydrogenase deficiency ACADSB CNV
Very long chain acyl-CoA dehydrogenase deficiency ACADVL CNV
Beta-ketothiolase deficiency ACAT1 CNV
Acyl-CoA oxidase I deficiency ACOX1 CNV
Combined malonic and methylmalonic aciduria ACSF3 CNV
Severe combined immunodeficiency, ADA-related ADA CNV
Ehlers-Danlos syndrome, type VIIC ADAMTS2 CNV
Bilateral frontoparietal polymicrogyria ADGRG1 CNV
Aspartylglucosaminuria AGA CNV
Glycogen storage disease, type III (Cori/Forbes) AGL CNV
Rhizomelic chondrodysplasia punctata, type 3 AGPS CNV
Hyperoxaluria, primary, type 1 AGXT CNV
Autoimmune polyendocrinopathy syndrome, type I AIRE CNV
Sjögren-Larsson syndrome ALDH3A2 CNV
Pyridoxine-dependent epilepsy ALDH7A1 CNV
Hereditary fructose intolerance ALDOB CNV
Congenital disorder of glycosylation, type 1C ALG6 CNV
Alström syndrome ALMS1 CNV
Hypophosphatasia, ALPL-related ALPL CNV
Persistent Müllerian duct syndrome, type 1 AMH CNV
Persistent Müllerian duct syndrome, type 2 AMHR2 CNV
Glycine encephalopathy, AMT-related AMT CNV
Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (MEDNIK) AP1S1 CNV
Familial nephrogenic diabetes insipidus, AQP2-related AQP2 CNV
Androgen insensitivity syndrome, X-linked AR CNV
Argininemia ARG1 CNV
Metachromatic leukodystrophy, ARSA-related ARSA CNV
Mucopolysaccharidosis, type VI (Maroteaux-Lamy) ARSB CNV
Argininosuccinate lyase deficiency ASL CNV
Asparagine synthetase deficiency ASNS CNV
Canavan disease ASPA CNV
Citrullinemia, type 1 ASS1 CNV
Ataxia-telangiectasia ATM CNV+
Renal tubular acidosis and deafness, ATP6V1B1-related ATP6V1B1 CNV
Menkes syndrome, X-linked ATP7A CNV
Wilson disease ATP7B CNV
Progressive familial intrahepatic cholestasis, type 1 ATP8B1 CNV
Alpha-thalassemia intellectual disability syndrome, X-linked ATRX CNV
Bardet-Biedl syndrome 1 BBS1 CNV
Bardet-Biedl syndrome 10 BBS10 CNV
Bardet-Biedl syndrome 12 BBS12 CNV
Bardet-Biedl syndrome 2 BBS2 CNV
Bardet-Biedl syndrome 4 BBS4 CNV+
Bardet-Biedl syndrome 9 BBS9 CNV
Pseudocholinesterase deficiency BCHE CNV
Maple syrup urine disease, type 1A BCKDHA CNV
Maple syrup urine disease, type 1B BCKDHB CNV
GRACILE syndrome BCS1L CNV
Bloom syndrome BLM CNV
Fanconi anemia, group J BRIP1 CNV
Bartter syndrome, type 4a BSND CNV
Biotinidase deficiency BTD CNV
Isolated growth hormone deficiency, type III, X-linked BTK CNV
Desbuquois dysplasia 1 CANT1 CNV
Limb-girdle muscular dystrophy, type 2A CAPN3 CNV
Catecholaminergic polymorphic ventricular tachycardia CASQ2 CNV
Homocystinuria, CBS-related CBS CNV
Mental retardation, autosomal recessive 3 CC2D1A CNV+
Usher syndrome, type 1D CDH23 CNV
Leber congenital amaurosis, type CEP290 CEP290 CNV
Retinitis pigmentosa 26 CERKL CNV
Cystic fibrosis CFTR CNV+
Choroideremia, X-linked CHM CNV
Congenital myasthenic syndrome, CHRNE-related CHRNE CNV
Escobar syndrome CHRNG CNV
Bare lymphocyte syndrome, CIITA-related CIITA CNV
Ceroid lipofuscinosis, neuronal, 3 CLN3 CNV+
Ceroid lipofuscinosis, neuronal, 5 CLN5 CNV
Ceroid lipofuscinosis, neuronal, 6 CLN6 CNV
Ceroid lipofuscinosis, neuronal, 8 (a.k.a. Northern epilepsy) CLN8 CNV
Usher syndrome, type 3 CLRN1 CNV
Achromatopsia, CNGA3-related CNGA3 CNV
Achromatopsia, CNGB3-related CNGB3 CNV
Fibrochondrogenesis, type 2 COL11A2 CNV
Alport syndrome, COL4A3-related COL4A3 CNV
Alport syndrome, COL4A4-related COL4A4 CNV
Alport syndrome, X-linked COL4A5 CNV
Dystrophic epidermolysis bullosa, COL7A1-related COL7A1 CNV
Carbamoyl phosphate synthetase I deficiency CPS1 CNV
Carnitine palmitoyltransferase IA deficiency CPT1A CNV
Carnitine palmitoyltransferase II deficiency CPT2 CNV
Leber congenital amaurosis 8 CRB1 CNV
Cystinosis CTNS CNV+
Papillon-Lefevre syndrome CTSC CNV
Ceroid lipofuscinosis, neuronal, 10 (CLN10 disease) CTSD CNV
Pycnodysostosis CTSK CNV
Chronic granulomatous disease, CYBA-related CYBA CNV
Chronic granulomatous disease, X-linked CYBB CNV
Congenital adrenal hyperplasia, 11-beta-hydroxylase-deficient CYP11B1 CNV
Corticosterone methyloxidase deficiency CYP11B2 CNV
Congenital adrenal hyperplasia, 17-alpha-hydroxylase deficiency CYP17A1 CNV
Aromatase deficiency CYP19A1 CNV
Primary congenital glaucoma CYP1B1 CNV
Congenital adrenal hyperplasia, 21-hydroxylase-deficient CYP21A2 SC
Cerebrotendinous xanthomatosis CYP27A1 CNV
Vitamin D–dependent rickets, type 1A CYP27B1 CNV
Maple syrup urine disease, type 2 DBT CNV
Severe combined immunodeficiency, type athabaskan DCLRE1C CNV
Xeroderma pigmentosum group E DDB2 CNV
Smith-Lemli-Opitz syndrome DHCR7 CNV
Retinitis pigmentosa 59 DHDDS CNV
Dyskeratosis congenita, X-linked DKC1 CNV
Dihydrolipoamide dehydrogenase deficiency DLD CNV
Duchenne/Becker muscular dystrophy DMD CNV+
Ciliary dyskinesia, primary 3 DNAH5 CNV
Ciliary dyskinesia, primary 1 DNAI1 CNV
Ciliary dyskinesia, primary 9 DNAI2 CNV
Ciliary dyskinesia, primary, 16 DNAL1 CNV
Congenital myasthenic syndrome, DOK7-related DOK7 CNV
Dihydropyrimidine dehydrogenase deficiency DPYD CNV
Limb-girdle muscular dystrophy, type 2B DYSF CNV
Hypohidrotic ectodermal dysplasia, X-linked EDA CNV
Hypohidrotic ectodermal dysplasia EDAR CNV
Wolcott-Rallison syndrome EIF2AK3 CNV
Leukoencephalopathy with vanishing white matter EIF2B5 CNV
Emery-Dreifuss muscular dystrophy 1, X-linked EMD CNV
Xeroderma pigmentosum, group D ERCC2 CNV
Xeroderma pigmentosum, group B ERCC3 CNV
Xeroderma pigmentosum, group F ERCC4 CNV
Xeroderma pigmentosum, group G ERCC5 CNV
Cockayne syndrome, type B ERCC6 CNV
Cockayne syndrome, type A ERCC8 CNV
Roberts syndrome ESCO2 CNV
Glutaric acidemia, type 2A ETFA CNV
Glutaric acidemia, type 2B ETFB CNV
Glutaric acidemia, type 2C ETFDH CNV
Ethylmalonic encephalopathy ETHE1 CNV
Ellis-van Creveld syndrome, EVC-related EVC CNV
Ellis-van Creveld syndrome, EVC2-related EVC2 CNV
Pontocerebellar hypoplasia, type 1B EXOSC3 CNV
Retinitis pigmentosa 25 EYS CNV
Factor XI deficiency F11 CNV
Prothrombin deficiency F2 CNV
Hemophilia A F8 CNV
Hemophilia B F9 CNV
Tyrosinemia, type I FAH CNV
Retinitis pigmentosa 28 FAM161A CNV
Fanconi anemia, group A FANCA CNV+
Fanconi anemia, group C FANCC CNV+
Fanconi anemia, group G FANCG CNV
Fumarase deficiency FH CNV
Limb-girdle muscular dystrophy, type 2I FKRP CNV
Walker-Warburg syndrome, FKTN-related FKTN CNV
Glycogen storage disease, type IA G6PC CNV
Glucose-6-phosphate dehydrogenase deficiency G6PD CNV
Glycogen storage disease, type II (Pompe disease) GAA CNV+
Krabbe disease GALC CNV+
Galactose epimerase deficiency GALE CNV
Galactokinase deficiency (galactosemia, type II) GALK1 CNV
Mucopolysaccharidosis, type IVA GALNS CNV
Hyperphosphatemic familial tumoral calcinosis GALNT3 CNV
Galactosemia GALT CNV+
Guanidinoacetate methyltransferase deficiency GAMT CNV
Gaucher disease GBA CNV
Glycogen storage disease, type IV GBE1 CNV
Glutaric acidemia, type 1 GCDH CNV
Dopa-responsive dystonia GCH1 CNV
Grebe syndrome GDF5 CNV
Combined oxidative phosphorylation deficiency 1 GFM1 CNV
Isolated growth hormone deficiency, type IA/II GH1 CNV+
Isolated growth hormone deficiency, type IB GHRHR CNV
Charcot-Marie-Tooth disease with deafness, X-linked GJB1 CNV
Non-syndromic hearing loss (a.k.a. connexin 26) GJB2 CNV+
Erythrokeratodermia variabilis et progressiva GJB3 CNV
Non-syndromic hearing loss (a.k.a. connexin 30) GJB6 CNV+
Fabry disease GLA CNV+
Mucopolysaccharidosis, type IVB / GM1 gangliosidosis GLB1 CNV
Glycine encephalopathy, GLDC-related GLDC CNV
Lethal congenital contracture syndrome 1 GLE1 CNV
Inclusion body myopathy 2 GNE CNV
Mucolipidosis II/IIIA GNPTAB CNV
Mucolipidosis III gamma GNPTG CNV
Mucopolysaccharidosis, type IIID (Sanfilippo D) GNS CNV
Geroderma osteodysplastica GORAB CNV
Bernard-Soulier syndrome, type A2 GP1BA CNV
Bernard-Soulier syndrome, type B GP1BB CNV
Bernard-Soulier syndrome, type C GP9 CNV
Primary hyperoxaluria, type 2 GRHPR CNV
Leber congenital amaurosis 1 GUCY2D CNV
Mucopolysaccharidosis, type VII GUSB CNV
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency HADHA CNV
Trifunctional protein deficiency HADHB CNV
Congenital neutropenia, HAX1-related HAX1 CNV
Alpha-thalassemia HBA1 SC
Alpha-thalassemia HBA2 SC
Beta-hemoglobinopathies HBB CNV+
Tay-Sachs disease HEXA CNV+
Sandhoff disease HEXB CNV
Hemochromatosis, type 1 HFE CNV
Hemochromatosis, type 2A HFE2 CNV
Alkaptonuria HGD CNV
Mucopolysaccharidosis, type IIIC (Sanfilippo C) HGSNAT CNV
Holocarboxylase synthetase deficiency HLCS CNV
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency HMGCL CNV
Heme oxygenase-1 deficiency HMOX1 CNV
Primary hyperoxaluria, type 3 HOGA1 CNV
Tyrosinemia, type 3 HPD CNV
Hermansky-Pudlak syndrome 1 HPS1 CNV
Hermansky-Pudlak syndrome 3 HPS3 CNV
Hermansky-Pudlak syndrome 4 HPS4 CNV
17-beta hydroxysteroid dehydrogenase 3 deficiency HSD17B3 CNV
D-bifunctional protein deficiency HSD17B4 CNV
3-beta-hydroxysteroid dehydrogenase type II deficiency HSD3B2 CNV
Hydrolethalus syndrome HYLS1 CNV
Mucopolysaccharidosis, type II (Hunter syndrome) IDS CNV
Mucopolysaccharidosis, type I (Hurler syndrome) IDUA CNV
Dysautonomia, familial (IKBKAP or ELP1) IKBKAP CNV
Severe combined immunodeficiency, X-linked IL2RG CNV
Glanzmann thrombasthenia ITGB3 CNV+
Isovaleric acidemia IVD CNV
Congenital hyperinsulinism, KCNJ11-related KCNJ11 CNV
LAMA2-related muscular dystrophy LAMA2 CNV
Herlitz junctional epidermolysis bullosa, LAMA3-related LAMA3 CNV
Herlitz junctional epidermolysis bullosa, LAMB3-related LAMB3 CNV
Herlitz junctional epidermolysis bullosa, LAMC2-related LAMC2 CNV
Leber congenital amaurosis, type LCA5 LCA5 CNV
Familial hypercholesterolemia, LDLR-related LDLR CNV
Familial hypercholesterolemia, LDLRAP1-related LDLRAP1 CNV
Leydig cell hypoplasia LHCGR CNV
Stuve-Wiedemann syndrome LIFR CNV
Lysosomal acid lipase deficiency LIPA CNV
Woolly hair/hypotrichosis syndrome LIPH CNV
Deafness, autosomal recessive 77 LOXHD1 CNV
Lipoprotein lipase deficiency LPL CNV
Leigh syndrome, French-Canadian type LRPPRC CNV
Chediak-Higashi syndrome LYST CNV
Alpha-mannosidosis MAN2B1 CNV
Hypermethioninemia MAT1A CNV
3-methylcrotonyl-CoA carboxylase 1 deficiency MCCC1 CNV
3-methylcrotonyl-CoA carboxylase 2 deficiency MCCC2 CNV
Mucolipidosis, type IV MCOLN1 CNV+
RETT syndrome MECP2 CNV
Microcephaly, postnatal progressive, with seizures and brain atrophy MED17 CNV
Familial Mediterranean fever MEFV CNV
Spondylothoracic dysostosis, MESP2-related MESP2 CNV
Ceroid lipofuscinosis, neuronal, 7 MFSD8 CNV
Bardet-Biedl syndrome 6 MKKS CNV
Meckel-Gruber syndrome, type 1 MKS1 CNV
Megalencephalic leukoencephalopathy with subcortical cysts MLC1 CNV
Malonyl-CoA decarboxylase deficiency MLYCD CNV
Methylmalonic aciduria, MMAA-related MMAA CNV
Methylmalonic aciduria, MMAB-related MMAB CNV
Methylmalonic aciduria and homocystinuria, type cblC MMACHC CNV
Methylmalonic aciduria and homocystinuria, type cblD MMADHC CNV
Molybdenum cofactor deficiency MOCS1 CNV
Congenital disorder of glycosylation, type 1B MPI CNV
Congenital amegakaryocytic thrombocytopenia MPL CNV
Hepatocerebral mitochondrial DNA depletion syndrome, MPV17-related MPV17 CNV
Ataxia-telangiectasia-like disorder 1 MRE11 CNV
Homocystinuria due to deficiency of MTHFR MTHFR CNV
Myotubular myopathy, X-linked MTM1 CNV
Homocystinuria, type cblE MTRR CNV
Abetalipoproteinemia MTTP CNV
Methylmalonic aciduria, type mut(0) MUT CNV
Deafness, autosomal recessive, 3 MYO15A CNV
Usher syndrome, type 1B MYO7A CNV
Mucopolysaccharidosis, type IIIB (Sanfilippo B) NAGLU CNV
N-acetylglutamate synthase deficiency NAGS CNV
Nijmegen breakage syndrome NBN CNV
Charcot-Marie-Tooth disease type 4D NDRG1 CNV
Mitochondrial complex I deficiency, NDUFAF5-related NDUFAF5 CNV
Mitochondrial complex I deficiency NDUFS4 CNV
Mitochondrial complex I deficiency, NDUFS6-related NDUFS6 CNV
Nemaline myopathy, NEB-related NEB CNV+
Sialidosis NEU1 CNV
Hydatidiform mole, recurrent NLRP7 CNV
Niemann-Pick disease, type C1/D NPC1 CNV
Niemann-Pick disease, type C2 NPC2 CNV
Juvenile nephronophthisis NPHP1 CNV
Congenital Finnish nephrosis NPHS1 CNV
Steroid-resistant nephrotic syndrome NPHS2 CNV
Congenital adrenal hypoplasia, X-linked NR0B1 CNV
Enhanced S-cone syndrome NR2E3 CNV
Congenital insensitivity to pain with anhidrosis (CIPA) NTRK1 CNV
Ornithine aminotransferase deficiency OAT CNV
Lowe syndrome, X-linked OCRL CNV
Costeff syndrome (3-methylglutaconic aciduria, type 3) OPA3 CNV
Ornithine transcarbamylase deficiency OTC CNV
Phenylketonuria PAH CNV+
Pantothenate kinase-associated neurodegeneration PANK2 CNV
Pyruvate carboxylase deficiency PC CNV
Propionic acidemia, PCCA-related PCCA CNV
Propionic acidemia, PCCB-related PCCB CNV
Usher syndrome, type 1F PCDH15 CNV+
Pyruvate dehydrogenase deficiency, X-linked PDHA1 CNV
Pyruvate dehydrogenase deficiency, PDHB-related PDHB CNV
Prolidase deficiency PEPD CNV
Cytochrome-c oxidase deficiency PET100 CNV
Peroxisome biogenesis disorder 1A (Zellweger) PEX1 CNV
Peroxisome biogenesis disorder 6A (Zellweger) PEX10 CNV
Peroxisome biogenesis disorder 3A (Zellweger) PEX12 CNV
Peroxisome biogenesis disorder 5A (Zellweger) PEX2 CNV
Peroxisome biogenesis disorder 4A (Zellweger) PEX6 CNV
Rhizomelic chondrodysplasia punctata, type 1 PEX7 CNV
Glycogen storage disease, type VII PFKM CNV
Phosphoglycerate dehydrogenase deficiency PHGDH CNV
Multiple congenital anomalies-hypotonia-seizures syndrome 1 PIGN CNV
Polycystic kidney disease, autosomal recessive PKHD1 CNV
Infantile neuroaxonal dystrophy 1 PLA2G6 CNV
Congenital disorder of glycosylation, type 1A, PMM2-related PMM2 CNV
Pyridoxal 5ʹ-phosphate-dependent epilepsy PNPO CNV
POLG-related disorders POLG CNV
Xeroderma pigmentosum variant POLH CNV
Muscle-eye-brain disease, POMGNT1-related POMGNT1 CNV
Cytochrome P450 oxidoreductase deficiency POR CNV
Ceroid lipofuscinosis, neuronal, 1 PPT1 CNV
Myasthenic syndrome, congenital, 22 PREPL CNV+
Combined pituitary hormone deficiency 2 PROP1 CNV
Arts syndrome, X-linked PRPS1 CNV
Metachromatic leukodystrophy, PSAP-related PSAP CNV
6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency PTS CNV
Mitochondrial myopathy and sideroblastic anemia (MLASA1) PUS1 CNV
Glycogen storage disease, type V (McArdle disease) PYGM CNV
Carpenter syndrome RAB23 CNV
Omenn syndrome, RAG1-related RAG1 CNV
Omenn syndrome, RAG2-related RAG2 CNV
Congenital myasthenic syndrome, RAPSN-related RAPSN CNV
Pontocerebellar hypoplasia, type 1 and 6, RARS2-related RARS2 CNV
Leber congenital amaurosis, type RDH12 RDH12 CNV
Retinal dystrophies, RLBP1-associated RLBP1 CNV
Cartilage-hair hypoplasia RMRP CNV
Aicardi-Goutieres syndrome, RNASEH2C-related RNASEH2C CNV
Leber congenital amaurosis 2 RPE65 CNV
Ciliopathies, RPGRIP1L-related RPGRIP1L CNV
Juvenile retinoschisis, X-linked RS1 CNV
Dyskeratosis congenita, RTEL1-related RTEL1 CNV
Autosomal recessive spastic ataxia of Charlevoix-Saguenay SACS CNV
MIRAGE syndrome SAMD9 CNV
Aicardi-Goutires syndrome SAMHD1 CNV+
Shwachman-Diamond syndrome SBDS CNV
Pontocerebellar hypoplasia, type 2D SEPSECS CNV
Alpha-1-antitrypsin deficiency SERPINA1 CNV
Limb-girdle muscular dystrophy, type 2D SGCA CNV
Limb-girdle muscular dystrophy, type 2E SGCB CNV
Limb-girdle muscular dystrophy, type 2F SGCD CNV
Limb-girdle muscular dystrophy, type 2C SGCG CNV
Mucopolysaccharidosis, type IIIA (Sanfilippo A) SGSH CNV
Gitelman syndrome SLC12A3 CNV
Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome) SLC12A6 CNV
Salla disease SLC17A5 CNV
Megaloblastic anemia syndrome SLC19A2 CNV
Carnitine deficiency SLC22A5 CNV
Citrullinemia, type II SLC25A13 CNV
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome SLC25A15 CNV
Carnitine-acylcarnitine translocase deficiency SLC25A20 CNV
Achondrogenesis, type 1B SLC26A2 CNV
Congenital chloride diarrhea SLC26A3 CNV
Pendred syndrome SLC26A4 CNV
Autism spectrum, epilepsy, and arthrogryposis SLC35A3 CNV
Glycogen storage disease, type IB SLC37A4 CNV
Acrodermatitis enteropathica SLC39A4 CNV
Cystinuria, type A SLC3A1 CNV+
Oculocutaneous albinism, type 4 SLC45A2 CNV
Corneal dystrophy and perceptive deafness SLC4A11 CNV
Creatine transporter defect (cerebral creatine deficiency syndrome 1, X-linked) SLC6A8 CNV
Lysinuric protein intolerance SLC7A7 CNV
Cystinuria, type B SLC7A9 CNV
Schimke immunoosseous dysplasia SMARCAL1 CNV
Spinal muscular atrophy SMN1 SC
Niemann-Pick disease, types A/B SMPD1 CNV
5-alpha reductase deficiency SRD5A2 CNV
GM3 synthase deficiency ST3GAL5 CNV
Lipoid congenital adrenal hyperplasia STAR CNV
Deafness, autosomal recessive 16 STRC CNV+
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) SUCLA2 CNV
Multiple sulfatase deficiency SUMF1 CNV
Leigh syndrome SURF1 CNV
Tyrosinemia, type II TAT CNV
Osteopetrosis, infantile malignant, TCIRG1-related TCIRG1 CNV
Hereditary spastic paraparesis, type 49 TECPR2 CNV
Hemochromatosis, type 3, TFR2-related TFR2 CNV
Lamellar ichthyosis, type 1 TGM1 CNV
Segawa syndrome, TH-related TH CNV
Deafness, autosomal dominant 36, autosomal recessive 7 TMC1 CNV
Joubert syndrome 2/Meckel syndrome 2 TMEM216 CNV
Congenital hypothyroidism TPO CNV
Ceroid lipofuscinosis, neuronal, 2 TPP1 CNV
Aicardi-Goutieres syndrome, TREX1-related TREX1 CNV
Bardet-Biedl syndrome 11 TRIM32 CNV
Mulibrey nanism syndrome TRIM37 CNV
Acute infantile liver failure, TRMU-related TRMU CNV
Pontocerebellar hypoplasia TSEN54 CNV
Combined oxidative phosphorylation deficiency 3 TSFM CNV
Congenital hypothyroidism TSHB CNV
Hypothyroidism, congenital, nongoitrous, 1 TSHR CNV
Tricho-hepato-enteric syndrome TTC37 CNV
Familial dilated cardiomyopathy TTN CNV
Ataxia with vitamin E deficiency TTPA CNV
Myoneurogastrointestinal encephalopathy (MNGIE) TYMP CNV
Oculocutaneous albinism, type 1 TYR CNV
Oculocutaneous albinism, type 3 TYRP1 CNV
Crigler-Najjar syndrome UGT1A1 CNV
Beta-ureidopropionase deficiency UPB1 CNV
Usher syndrome, type 1C USH1C CNV
Usher syndrome, type 2A USH2A CNV+
Choreo-acanthocytosis VPS13A CNV+
Cohen syndrome VPS13B CNV
Congenital neutropenia, VPS45-related VPS45 CNV
Pontocerebellar hypoplasia, type 2E VPS53 CNV
Pontocerebellar hypoplasia, type 1A VRK1 CNV
Microphthalmia/Anophthalmia, VSX2-related VSX2 CNV
Von Willebrand disease VWF CNV
Wiskott-Aldrich syndrome, X-linked WAS CNV
Progressive pseudorheumatoid dysplasia WISP3 CNV
Odonto-onycho-dermal dysplasia/Schopf-Schulz-Passarge syndrome WNT10A CNV
Werner syndrome WRN CNV
Xeroderma pigmentosum group A XPA CNV
Xeroderma pigmentosum group C XPC CNV
Spastic paraplegia type 15 ZFYVE26 CNV


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

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

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

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

Three software tools integrate seamlessly, to reduce the need for extensive bioinformatics expertise and to provide a concise result report that reduces case review time.

Torrent Suite Software enables fast and easy sequencing run planning, monitoring, automated sequencing, primary data analysis, and alignment. Data are automatically exported to the Ion Reporter Software and further processed with preconfigured CarrierSeq workflows to call variants, such as SNVs, indels, and CNVs, as well as putative gene conversion events (Figure 3).

sequencingdata

Torrent Suite Software

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

variantcnv

Ion Reporter Software

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

variant

Carrier Reporter Software

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

Figure 3. Straightforward bioinformatics workflow.

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 guidelines. The intuitive user interface presents the sequencing QC information and carrier results, including no call information for individuals or couples. Additionally, software customization enables analysis and reporting of only the variants and genes of interest.


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