Search Thermo Fisher Scientific
Expanded Carrier Screening
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
CNV detection is an essential part of genetic analysis for inherited disorders. But genetic variants for a number of the most severe yet prevalent disorders can be challenging to detect by NGS assays. Our algorithms have been optimized to overcome the difficulties in variant calling from pseudogenes, paralogues, or related homology issues. Confirmation of findings via an orthogonal testing method is recommended.
No records were found matching your criteria
| 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.
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
Expanded Carrier Screening Resources
For Research Use Only. Not for use in diagnostic procedures.