Ion AmpliSeq Inherited Disease Panel target gene list

[Pages:4]Ion AmpliSeqTM Inherited Disease Panel target gene list

Developed to match genes targeted by clinical molecular geneti- Panel employs over 10,000 primer pairs in just 3 tubes to amplify

cists studying inherited diseases, including genes listed in the

the exons of 328 genes. These genes are associated with over 700

NIH Genetic Testing Registry, the Ion AmpliSeqTM Inherited Disease inherited diseases according to NCBI ClinVar database.

Symbol ABCA4 ABCC9 ABCD1 ACADVL ACTA2 ACTC1 ACTN2 ADA AIPL1 AIRE AKAP9 AKR1B1 ALPL AMT ANK2 APC APP APTX ARL6 ARSA ASL ASPA ATL1 ATM ATP2A2 ATP7A ATP7B ATXN1 ATXN2 ATXN7 BAG3 BCKDHA BCKDHB BEST1

Disease Retinitis Pigmentosa Dilated Cardiomyopathy 1O X-Linked Adrenoleukodystrophy Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency Thoracic Aortic Aneurysms and Aortic Dissections Familial Hypertrophic Cardiomyopathy Dilated Cardiomyopathy 1AA Severe Combined Immunodeficiency Leber Congenital Amaurosis Autoimmune Polyendocrine Syndrome Long QT Syndrome, Autosomal Dominant Androgen Insensitivity Syndrome Hypophosphatasia Glycine Encephalopathy Long/Short QT Syndrome, Autosomal Dominant APC-Associated Polyposis Conditions Early-Onset Familial Alzheimer Disease Ataxia with Oculomotor Apraxia Type 2 Retinitis Pigmentosa Arylsulfatase A Deficiency Argininosuccinate Lyase Deficiency Canavan Spastic Paraplegia-3A Ataxia-Telangiectasia Darier Disease Menkes/ATP7A-Related Copper Transport Disease Wilson Disease Spinocerebellar Ataxia 1 Spinocerebellar Ataxia 2 Spinocerebellar Ataxia 7 Dilated Cardiomyopathy 1HH Maple Syrup Urine Disease Maple Syrup Urine Disease Retinitis Pigmentosa

Symbol BMPR1A BTD BTK CA4 CACNA1C CACNB2 CALR3 CAPN3 CASQ2 CAV3 CCDC39 CCDC40 CDH23 CEP290 CERKL CFTR CHAT CHD7 CHEK2 CHM CHRNA1 CHRNB1 CHRND CHRNE CLCN1 CNGB1 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL3A1 COL4A1 COL4A5

Disease Juvenile Polyposis Syndrome Biotinidase Deficiency Agammaglobulinemia, X-Linked, Type 1 Retinitis Pigmentosa Brugada Syndrome Brugada Syndrome Familial Hypertrophic Cardiomyopathy Limb-Girdle Muscular Dystrophy Type 2A - Calpainopathy Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Familial Hypertrophic Cardiomyopathy Primary Ciliary Dyskinesia Primary Ciliary Dyskinesia Usher Syndrome Type 1 Leber Congenital Amaurosis Retinitis Pigmentosa Cystic Fibrosis Congenital Myasthenic Syndromes Charge Syndrome Li-Fraumeni Syndrome Choroideremia Congenital Myasthenic Syndromes Congenital Myasthenic Syndromes Congenital Myasthenic Syndromes Congenital Myasthenic Syndromes Myotonia Congenita Retinitis Pigmentosa Stickler Syndrome, AD Inherited Deafness Osteogenesis Imperfecta Osteogenesis Imperfecta Stickler Syndrome, AD Ehlers-Danlos Syndrome Thoracic Aortic Aneurysms and Aortic Dissections Alport Syndrome

Learn more about the Ion AmpliSeqTM Inherited Disease Panel at ampliseqready

Ion AmpliSeqTM Inherited Disease Panel target gene list

Symbol COL5A1 COL5A2 COL7A1 COL9A1 CRB1 CRX CTDP1 CTNS CYP27A1 DBT DCX DES DHCR7 DKC1 DLD DMD DNAH5 DNAH9 DNAH11 DNAI1 DNAI2 DNM2 DOK7 DSC2 DSG2 DSP DYSF ELN EMD ENG EXT1 EYA1 EYS F8 F9 FANCA FANCC FANCF FANCG FBN1 FBXO7 FGFR1 FGFR3 FMO3

Disease Ehlers-Danlos Syndrome, Classic Type Ehlers-Danlos Syndrome, Classic Type Epidermolysis Bullosa Simplex Stickler Syndrome Leber Congenital Amaurosis Retinitis Pigmentosa Congenital Cataracts, Facial Dysmorphism, and Neuropathy Cystinosis Cerebrotendinous Xanthomatosis Maple Syrup Urine Disease Double Cortex Syndrome Dilated Cardiomyopathy Smith-Lemli-Opitz Syndrome Dyskeratosis Congenita Maple Syrup Urine Disease Duchenne/Becker Muscular Dystrophy Primary Ciliary Dyskinesia Primary Ciliary Dyskinesia Primary Ciliary Dyskinesia Primary Ciliary Dyskinesia Primary Ciliary Dyskinesia Charcot-Marie-Tooth Disease Type 2B Congenital Myasthenic Syndromes Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Dysferlinopathy Supravalvular Aortic Stenosis Emery-Dreifuss Muscular Dystrophy, X-Linked Hereditary Hemorrhagic Telangiectasia Exostoses, Multiple, Type 1 Branchiootorenal Spectrum Disorders Retinitis Pigmentosa Hemophilia A Hemophilia B Fanconi Anemia Fanconi Anemia Fanconi Anemia Fanconi Anemia Marfan Syndrome Parkinson Disease FGFR-Related Craniosynostosis Syndromes Hypochondroplasia Trimethylaminuria

Symbol FOXL2 FRG1 FRMD7 FSCN2 FXN GAA GALT GATA4 GBA GBE1 GCSH GDF5 GJB2 GJB3 GJB6 GLA GLDC GNE GNPTAB GPC3 GPD1L GPR143 GUCY2D HBA2 HBB HCN4 HEXA HFE HIBCH HMBS HR IDS IDUA IKBKAP IL2RG IMPDH1 ITGB4 JAG1 JUP KCNE1 KCNE2 KCNE3 KCNH2 KCNJ2

Disease Blepharophimosis-Ptosis-Epicanthus Inversus Facioscapulohumeral Muscular Dystrophy FRMD7-Related Infantile Nystagmus Retinitis Pigmentosa Friedreich Ataxia Pompe Disease -GSD II Galactosemia Atrial Septal Defect Gaucher Disease Glycogen Storage Disease Type VI Glycine Encephalopathy Brachydactyly Inherited Deafness, Top Genes Inherited Deafness, Top Genes Inherited Deafness, Top Genes Fabry Disease Glycine Encephalopathy Inclusion Body Myopathy 2 Mucolipidosis II Wilms Tumor, Classical Brugada Syndrome Ocular Albinism, X-Linked Leber Congenital Amaurosis Alpha-Thalassemia - Southeast Asia Sickle Cell Disease Beta-Thalassemia Brugada Syndrome Hexosaminidase A Deficiency HFE-Associated Hereditary Hemochromatosis Beta-Hydroxyisobutyryl CoA Deacylase Deficiency (HIBCH Deficiency) Hydroxymethylbilane Synthase (HMBS) Deficiency Alopecia Universalis Congenita (ALUNC) Hunter Syndrome (MPSII) Hurler Syndrome (MPSI) Familial Dysautonomia (HSAN III) X-Linked SCIDS Leber Congenital Amaurosis Epidermolysis Bullosa Simplex Alagille Syndrome Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Long QT Syndrome, Autosomal Dominant Long QT Syndrome, Autosomal Dominant Brugada Syndrome Long QT Syndrome, Autosomal Dominant Short QT Syndrome

Learn more about the Ion AmpliSeqTM Inherited Disease Panel at ampliseqready

Ion AmpliSeqTM Inherited Disease Panel target gene list

Symbol KCNQ1 KCNQ4 KIAA0196 KLHL7 KRAS KRT5 KRT14 L1CAM LAMB3 LAMP2 LDB3 LMNA LRAT LRRK2 MAPRE2 MAPT MC1R MECP2 MED12 MEN1 MERTK MFN2 MLH1 MMAA MMAB MMACHC MPZ MSH2 MTM1 MUT MYBPC3 MYH11 MYH6 MYH7 MYL2 MYL3 MYLK MYO7A MYOZ2 NF1 NF2 NIPBL NKX2-5 NPC1

Disease Long QT Syndrome, Autosomal Dominant Inherited Deafness Spastic Paraplegia 8 Retinitis Pigmentosa Noonan Syndrome Epidermolysis Bullosa Simplex Epidermolysis Bullosa Simplex Spastic Paraplegia Type 1 - L1 Syndrome Epidermolysis Bullosa Simplex Dilated Cardiomyopathy Dilated Cardiomyopathy Limb-Girdle Muscular Dystrophy, Type 1B Retinitis Pigmentosa Parkinson Disease Retinitis Pigmentosa Parkinson-Dementia Syndrome Oculocutaneous Albinism Type 2 MECP2-Rett Syndrome Fryns Syndrome Multiple Endocrine Neoplasia Type 1 Retinitis Pigmentosa Charcot-Marie-Tooth Neuropathy Type 2A Turcot Syndrome Methylmalonic Acidemia Methylmalonic Acidemia Methylmalonic Acidemia Charcot-Marie-Tooth Neuropathy Type 1B Turcot Syndrome X-Linked Myotubular Myopathy Methylmalonic Acidemia Familial Hypertrophic Cardiomyopathy Thoracic Aortic Aneurysms and Aortic Dissections Familial Hypertrophic Cardiomyopathy Familial Hypertrophic Cardiomyopathy Familial Hypertrophic Cardiomyopathy Familial Hypertrophic Cardiomyopathy Familial Hypertrophic Cardiomyopathy Usher Syndrome Type 1 Familial Hypertrophic Cardiomyopathy Neurofibromatosis Type 1 Neurofibromatosis Type 2 Cornelia de Lange Syndrome Tetralogy of Fallot Niemann-Pick Disease Type C1

Symbol NPC2 NR2E3 NRAS NSD1 NUDT19 OCA2 OCRL OTC PABPN1 PAFAH1B1 PAH PAX3 PAX6 PCDH15 PEX1 PEX3 PEX5 PEX10 PEX13 PEX14 PEX19 PEX26 PINK1 PKD1 PKD2 PKHD1 PKP2 PLEC PLN PLOD1 PMM2 PMP22 POLG PPT1 PRCD PRKAG2 PROM1 PRPF8 PRPF31 PRPH2 PSEN1 PSEN2 PTCH1 PTPN11

Disease Niemann-Pick Disease Type C2 Retinitis Pigmentosa Noonan Syndrome Sotos Syndrome Retinitis Pigmentosa Oculocutaneous Albinism Type 2 Lowe Syndrome Ornithine Transcarbamylase Deficiency Oculopharyngeal Muscular Dystrophy Lissencephaly 1 Phenylketonuria (PKU) Waardenburg Syndrome, Type 1 Aniridia Usher Syndrome Type 1 Zellweger Syndrome Peroxisome Biogenesis, Zellweger Neonatal Adrenoleucodystrophy Peroxisome Biogenesis, Zellweger Peroxisome Biogenesis, Zellweger Peroxisome Biogenesis, Zellweger Peroxisome Biogenesis, Zellweger Peroxisome Biogenesis, Zellweger Parkinson Disease Polycystic Kidney Disease, Autosomal Dominant Polycystic Kidney Disease, Autosomal Recessive Polycystic Kidney Disease, Autosomal Recessive Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Epidermolysis Bullosa Simplex Dilated Cardiomyopathy 1P Ehlers-Danlos Syndrome, Kyphoscoliotic Form Congenital Disorder of Glycosylation Type 1a Charcot-Marie-Tooth Neuropathy Type 1A Alpers Syndrome Ceroid Lipofuscinoses (Batten Disease) Retinitis Pigmentosa Familial Hypertrophic Cardiomyopathy Retinitis Pigmentosa Retinitis Pigmentosa Retinitis Pigmentosa Retinitis Pigmentosa Early-Onset Familial Alzheimer Disease Early-Onset Familial Alzheimer Disease Holoprosencephaly-7 & Basal Cell Nevus Syndrome Noonan Syndrome

Learn more about the Ion AmpliSeqTM Inherited Disease Panel at ampliseqready

Ion AmpliSeqTM Inherited Disease Panel target gene list

Symbol RAF1 RAG1 RAG2 RAI1 RAPSN RB1 RDH12 RET RHO ROR2 RP9 RPE65 RPGR RPGRIP1 RPL11 RPL35A RPS6KA3 RPS7 RPS10 RPS19 RPS24 RPS26 RS1 RSPH4A RSPH9 RYR1 RYR2 SALL4 SCN1B SCN3B SCN4B SCN5A SCN9A SEMA4A SERPINA1 SERPING1 SGCD SH3BP2 SIX1 SIX5 SLC25A4 SLC25A13

Disease Noonan Syndrome Severe Combined Immunodeficiency Severe Combined Immunodeficiency Smith-Magenis Syndrome Congenital Myasthenic Syndromes Retinoblastoma Leber Congenital Amaurosis Multiple Endocrine Neoplasia Type 2 Retinitis Pigmentosa Brachydactyly, Type B1 Retinitis Pigmentosa Leber Congenital Amaurosis Retinitis Pigmentosa Leber Congenital Amaurosis Diamond-Blackfan Anemia Diamond-Blackfan Anemia Coffin-Lowry Syndrome Familial Hypertrophic Cardiomyopathy Diamond-Blackfan Anemia Diamond-Blackfan Anemia Diamond-Blackfan Anemia Diamond-Blackfan Anemia X-Linked Juvenile Retinoschisis Primary Ciliary Dyskinesia Primary Ciliary Dyskinesia Malignant Hyperthermia Susceptibility Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Duane Syndrome - Autosomal Dominant Brugada Syndrome Brugada Syndrome Long QT Syndrome, Autosomal Dominant Brugada Syndrome SCN9A-Related Inherited Erythromelalgia Retinitis Pigmentosa Alpha-1-Antitrypsin Deficiency Angioedema, Hereditary, Types I and II Dilated Cardiomyopathy Cherubism Branchiootorenal Spectrum Disorders Branchiootorenal Spectrum Disorders Familial Hypertrophic Cardiomyopathy Citrin Deficiency

Symbol SLC26A4 SMAD3 SMAD4 SNCA SNRNP200 SNTA1 SOD1 SOS1 SOX9 SPATA7 SPG7 STARD3 TAF1 TAZ TBX5 TCOF1 TGFBR1 TGFBR2 TMEM43 TNNC1 TNNI3 TNNT1 TNNT2 TNXB TOPORS TP53 TPM1 TSC1 TSC2 TTPA TTR TULP1 TWIST1 TXNDC3 TYR USH1C USH2A VCL VHL WAS WRN WT1

Disease Pendred Syndrome/Syndromic Deafness Thoracic Aortic Aneurysms and Aortic Dissections Juvenile Polyposis Syndrome Parkinson Disease Retinitis Pigmentosa Long QT Syndrome, Autosomal Dominant Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) Noonan Syndrome Campomelic Dysplasia Retinitis Pigmentosa Spastic Paraplegia 7 Cardiomyopathy (Dilated) X-Linked Dystonia-Parkinsonism Cardiomyopathy (Dilated) Holt-Oram Syndrome Treacher Collins Syndrome Thoracic Aortic Aneurysms and Aortic Dissections Thoracic Aortic Aneurysms and Aortic Dissections Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Dilated Cardiomyopathy Dilated Cardiomyopathy Nemaline Myopathy Familial Hypertrophic Cardiomyopathy Ehlers-Danlos Syndrome, Hypermobility Type Retinitis Pigmentosa Li-Fraumeni Syndrome Familial Hypertrophic Cardiomyopathy Tuberous Sclerosis Complex Tuberous Sclerosis Complex Ataxia with Vitamin E Deficiency Familial Transthyretin Amyloidosis Retinitis Pigmentosa Saethre-Chotzen Syndrome Primary Ciliary Dyskinesia Oculocutaneous Albinism Type 1 Usher Syndrome Type 1 Usher Syndrome Type 2 Familial Hypertrophic Cardiomyopathy von Hippel-Lindau Syndrome Wiskott-Aldrich Syndrome Werner Syndrome Wilms Tumor, Classical

Learn more about the Ion AmpliSeqTM Inherited Disease Panel at ampliseqready

For research use only. Not intended for diagnostic proceedures. ?2012 Life Technologies Corporation. All rights reserved. The trademarks mentioned herein are the property of Life Technologies Corporation and/or its affiliate(s) or their respective owners. CO25570 0512

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