1 Table of Contents
1 Table of Contents 2
1.1 List of Tables 11
1.2 List of Figures 20
2 Introduction 21
2.1 Inborn Gene or Chromosome Alterations Overview 21
3 Products under Development 22
3.1 Inborn Gene or Chromosome Alterations - Pipeline Products by Stage of Development 22
3.2 Inborn Gene or Chromosome Alterations - Pipeline Products by Territory 23
3.3 Inborn Gene or Chromosome Alterations - Pipeline Products by Regulatory Path 24
3.4 Inborn Gene or Chromosome Alterations - Pipeline Products by Estimated Approval Date 25
3.5 Inborn Gene or Chromosome Alterations - Ongoing Clinical Trials 26
4 Inborn Gene or Chromosome Alterations - Pipeline Products under Development by Companies 27
4.1 Inborn Gene or Chromosome Alterations Companies - Pipeline Products by Stage of Development 27
4.2 Inborn Gene or Chromosome Alterations - Pipeline Products by Stage of Development 31
5 Inborn Gene or Chromosome Alterations Companies and Product Overview 36
5.1 3D Signatures Inc Company Overview 36
5.2 Agena Bioscience, Inc Company Overview 38
5.3 Amarantus Bioscience Holdings Inc Company Overview 39
5.4 Ariosa Diagnostics Inc Company Overview 40
5.5 Atomic International Company Overview 41
5.6 AutoGenomics Inc Company Overview 42
5.7 Avellino Lab USA, Inc. Company Overview 53
5.8 Baylor College of Medicine Company Overview 54
5.9 BCML GmbH Company Overview 55
5.10 BioCeps (Inactive) Company Overview 56
5.11 Celula Inc Company Overview 57
5.12 Children's Hospital Boston Company Overview 58
5.13 Cincinnati Children's Hospital Medical Center Company Overview 60
5.14 Columbia University Company Overview 65
5.15 Da An Gene Co Ltd Company Overview 67
5.16 Deutsches Institut fur Ernahrungsforschung Company Overview 69
5.17 Epinex Diagnostics, Inc. Company Overview 70
5.18 Fina Biotech Company Overview 71
5.19 Firalis SAS Company Overview 72
5.20 Fluidigm Corp Company Overview 73
5.21 Fraunhofer-Gesellschaft zur Forderung der Angewandten Forschung eV Company Overview 75
5.22 Genekam Biotechnology AG Company Overview 76
5.23 Genentech Inc Company Overview 77
5.24 Genetic Analysis AS Company Overview 78
5.25 GENEWIZ Inc Company Overview 80
5.26 German Cancer Research Center Company Overview 81
5.27 GILUPI Nanomedizin Company Overview 83
5.28 Good Start Genetics Inc Company Overview 84
5.29 Goodgene Inc Company Overview 86
5.30 Hadassah Medical Center Company Overview 87
5.31 Helicos BioSciences Corporation Company Overview 88
5.32 Helmholtz Zentrum Munchen Deutsches Forschungszentrum fur Gesundheit und Umwelt (GmbH) Company Overview 89
5.33 Illumina, Inc. Company Overview 91
5.34 Immunexpress Pty Ltd Company Overview 94
5.35 Inform Genomics Inc Company Overview 97
5.36 Institute of Cancer Research Company Overview 99
5.37 Interleukin Genetics Inc Company Overview 100
5.38 John Hopkins University Company Overview 102
5.39 JS Genetics Inc Company Overview 103
5.40 Juneau Biosciences LLC Company Overview 104
5.41 KellBenx Inc Company Overview 106
5.42 Laboratory Corp of America Holdings Company Overview 108
5.43 Laval University Company Overview 110
5.44 Maastricht University Medical Center Company Overview 111
5.45 Massachusetts Eye and Ear Infirmary Company Overview 112
5.46 Max-Delbruck-Centrum fur Molekulare Medizin (MDC) Company Overview 114
5.47 Medical Research Council Company Overview 115
5.48 National Institute of Immunohaematology Company Overview 116
5.49 National University of Singapore Company Overview 117
5.50 NewGene Ltd Company Overview 119
5.51 Northwestern University Company Overview 122
5.52 NX PharmaGen Inc Company Overview 123
5.53 OncoGenesis Company Overview 124
5.54 Oxford Biodynamics Ltd Company Overview 125
5.55 Paragon Medical, Inc. Company Overview 142
5.56 PerkinElmer Inc Company Overview 143
5.57 Population Diagnostics Inc Company Overview 145
5.58 PreCyte, Inc. Company Overview 146
5.59 Premaitha Health Plc Company Overview 147
5.60 Prenetics Inc Company Overview 149
5.61 Qiagen NV Company Overview 150
5.62 Quest Diagnostics Inc Company Overview 152
5.63 R-Biopharm AG Company Overview 156
5.64 Sansure Biotech Inc Company Overview 157
5.65 Sapien Biosciences Company Overview 158
5.66 Sequenom Inc Company Overview 161
5.67 Sequoia Genetics Company Overview 163
5.68 Sheba Medical Center Company Overview 164
5.69 SkylineDx BV Company Overview 165
5.70 Spartan Bioscience Inc Company Overview 166
5.71 Strand Life Sciences Pvt Ltd Company Overview 167
5.72 The University of Utah Company Overview 169
5.73 Transgenomic Inc Company Overview 170
5.74 Transplant Genomics Inc. Company Overview 172
5.75 TrovaGene Inc Company Overview 173
5.76 Tufts Medical Center Company Overview 175
5.77 University Hospital of Cologne Company Overview 176
5.78 University of Colorado Company Overview 180
5.79 University of Texas Health Science Center at Houston Company Overview 181
5.80 VitaPath Genetics, Inc. Company Overview 183
5.81 Xiamen Zeesan Biotech Co.,Ltd Company Overview 184
6 Inborn Gene or Chromosome Alterations- Recent Developments 185
6.1 Dec 07, 2016: Illumina appoints senior vice president and CFO 185
6.2 Dec 07, 2016: Illumina Extends Management Team, Appoints Sam A. Samad as Senior Vice President and Chief Financial Officer 185
6.3 Dec 05, 2016: NxGen MDx announces the move of their Non-invasive Prenatal Test in-house 185
6.4 Dec 05, 2016: Good Start Genetics Enters into Marketing Agreement with Roche Diagnostics 186
6.5 Dec 02, 2016: GeneNews to Raise USD3 Million in Private Placement of 8% Debentures Due 2019 186
6.6 Dec 01, 2016: The Centers For Medicare And Medicaid Services Establishes 2017 Pricing For Aneuploidy And Microdeletion Testing 186
6.7 Nov 29, 2016: CombiMatrix’s Pre-Implantation Genetic Screening by Next Generation Sequencing Granted Conditional Approval from New York State Department of Health 187
6.8 Nov 29, 2016: SenzaGen awarded EU grant of € 2,4 million in heavy competition, to develop GARDair for industry use 187
6.9 Nov 21, 2016: Premaitha establishes first service laboratory customer in Asia 187
6.10 Nov 17, 2016: genedrive Announces CE-IVD Certification for Genedrive Human Genotyping Test 188
6.11 Nov 15, 2016: Interleukin Genetics Reports Third Quarter 2016 Financial Results 189
6.12 Nov 14, 2016: Prospective clinical follow-up study with over 2,200 patients confirms high test accuracy of PrenaTest for fetal trisomies 190
6.13 Nov 11, 2016: GeneNews Announces Q3-2016 Financial Results and Provides Corporate Update 191
6.14 Nov 10, 2016: Avellino Labs to Introduce Keratoconus Screening Test in early 2017 192
6.15 Nov 09, 2016: Trovagene Reports Third Quarter 2016 Financial Results and Accomplishments 193
6.16 Nov 09, 2016: Natera Reports Third Quarter 2016 Financial Results 194
6.17 Nov 09, 2016: Daniel B. Polley, Ph.D., appointed Director of Lauer Tinnitus Research Center at Mass. Eye and Ear 195
6.18 Nov 03, 2016: GenMark Diagnostics Reports Q3 Financial Results 196
6.19 Nov 03, 2016: Fluidigm Announces Third Quarter Financial Results 196
6.20 Nov 02, 2016: CombiMatrix Reports Third Quarter 2016 Financial and Operating Results 198
6.21 Nov 02, 2016: QIAGEN Reports Results for Third Quarter and First Nine Months of 2016 199
6.22 Nov 02, 2016: Hologic Announces Financial Results for Fourth Quarter of Fiscal 2016 202
6.23 Nov 02, 2016: QIAGEN launches restructuring initiatives, revises outlook for 2016 earnings and provides initial net sales and adjusted earnings guidance for 2017 203
6.24 Nov 01, 2016: Illumina Reports Full Financial Results for Third Quarter of Fiscal Year 2016 204
6.25 Nov 01, 2016: Myriad Genetics Reports Fiscal First-Quarter 2017 Financial Results 205
6.26 Nov 01, 2016: Asuragen Launches QuantideX NGS RNA Lung Cancer Kit 206
6.27 Oct 31, 2016: NHS to adopt NIPT for high risk women 207
6.28 Oct 31, 2016: Luminex Reports Third Quarter 2016 Results; Raises Full Year Guidance 208
6.29 Oct 27, 2016: Thermo Fisher Scientific Reports Third Quarter 2016 Results 208
6.30 Oct 26, 2016: Laboratory Corporation of America Holdings Announces 2016 Third Quarter Results and Updates 2016 Guidance 210
6.31 Oct 25, 2016: Oxford BioDynamics presents results of study into epigenetic biomarkers for ALS at The Lancet Neurology Conference 212
6.32 Oct 24, 2016: German Court Issues Preliminary Injunction Against amedes Fetalis Test for Infringement of Non-Invasive Prenatal Screening Patent 213
6.33 Oct 24, 2016: ORYZON Reports Financial Results and Corporate Update for the 3rd Quarter Ended September 30, 2016 213
6.34 Oct 24, 2016: Analysis of rare circulating fetal cells make possible a new type of noninvasive genetic prenatal testing 214
6.35 Oct 20, 2016: Quest Diagnostics Reports Third Quarter 2016 Financial Results 215
6.36 Oct 19, 2016: RainDance Technologies Showcases the Power and Precision of Its Picodroplet Platform at ASHG 2016 Annual Meeting 216
6.37 Oct 19, 2016: Lineagen Announces Presentation at Annual Meeting of the American Society of Human Genetics and Commercial Launch of a Proprietary Variant Index 217
6.38 Oct 19, 2016: Fluidigm Names S. Christopher Linthwaite as New Chief Executive Officer 218
6.39 Oct 17, 2016: Reprogenetics, Recombine, and Genesis Genetics Unite As Part of the CooperSurgical Family at ASRM 2016 Scientific Congress 218
6.40 Oct 14, 2016: IntegraGen Reports Revenues for First Half of 2016 219
6.41 Oct 13, 2016: Natera Announces Poster Presentation on Horizon carrier screen at the 2016 American Society for Reproductive Medicine (ASRM) Conference 220
6.42 Oct 13, 2016: Natera Announces Poster Presentation on Spectrum pre-implantation genetic test at the 2016 American Society for Reproductive Medicine (ASRM) Conference 220
6.43 Oct 12, 2016: Fluidigm Announces Preliminary Third Quarter 2016 Revenue 221
6.44 Oct 10, 2016: Illumina Announces Preliminary Revenue for Third Quarter of Fiscal Year 2016 222
7 Appendix 304
7.1 Methodology 304
7.2 About GlobalData 306
7.3 Contact Us 306
7.4 Disclaimer 307

1.1 List of Tables
Table 1: Inborn Gene or Chromosome Alterations - Pipeline Products by Stage of Development 22
Table 2: Inborn Gene or Chromosome Alterations - Pipeline Products by Territory 23
Table 3: Inborn Gene or Chromosome Alterations - Pipeline Products by Regulatory Path 24
Table 4: Inborn Gene or Chromosome Alterations - Pipeline Products by Estimated Approval Date 25
Table 5: Inborn Gene or Chromosome Alterations - Ongoing Clinical Trials 26
Table 6: Inborn Gene or Chromosome Alterations Companies - Pipeline Products by Stage of Development 27
Table 7: Inborn Gene or Chromosome Alterations - Pipeline Products by Stage of Development 31
Table 8: 3D Signatures Inc Pipeline Products & Ongoing Clinical Trials Overview 36
Table 9: 3D Telo-AD Test - Product Status 36
Table 10: 3D Telo-AD Test - Product Description 37
Table 11: Agena Bioscience, Inc Pipeline Products & Ongoing Clinical Trials Overview 38
Table 12: Sensigene Trisomy 21 Laboratory Developed Test - Product Status 38
Table 13: Sensigene Trisomy 21 Laboratory Developed Test - Product Description 38
Table 14: Amarantus Bioscience Holdings Inc Pipeline Products & Ongoing Clinical Trials Overview 39
Table 15: Diagnostic Test - IFN-Beta Resistance - Product Status 39
Table 16: Diagnostic Test - IFN-Beta Resistance - Product Description 39
Table 17: Ariosa Diagnostics Inc Pipeline Products & Ongoing Clinical Trials Overview 40
Table 18: Harmony Prenatal Test - Product Status 40
Table 19: Harmony Prenatal Test - Product Description 40
Table 20: Atomic International Pipeline Products & Ongoing Clinical Trials Overview 41
Table 21: Thrombophilia Genotyping Assay - Product Status 41
Table 22: Thrombophilia Genotyping Assay - Product Description 41
Table 23: AutoGenomics Inc Pipeline Products & Ongoing Clinical Trials Overview 42
Table 24: DNA Guided Diagnostic Test - Cardiovascular Disease - Product Status 42
Table 25: DNA Guided Diagnostic Test - Cardiovascular Disease - Product Description 43
Table 26: DNA Guided Diagnostic Test - Diabetes - Product Status 43
Table 27: DNA Guided Diagnostic Test - Diabetes - Product Description 43
Table 28: DNA Guided Diagnostic Test - Obesity - Product Status 44
Table 29: DNA Guided Diagnostic Test - Obesity - Product Description 44
Table 30: INFINITI CFTR-31 Assay - Product Status 44
Table 31: INFINITI CFTR-31 Assay - Product Description 45
Table 32: INFINITI Factor II-V And MTHFR Assay - Product Status 45
Table 33: INFINITI Factor II-V And MTHFR Assay - Product Description 46
Table 34: INFINITI FMF Assay - Product Status 46
Table 35: INFINITI FMF Assay - Product Description 47
Table 36: INFINITI MTHFR Assay - Product Status 47
Table 37: INFINITI MTHFR Assay - Product Description 48
Table 38: INFINITI SMART - Factor II - Product Status 48
Table 39: INFINITI SMART - Factor II - Product Description 48
Table 40: INFINITI SMART - Factor V - Product Status 49
Table 41: INFINITI SMART - Factor V - Product Description 49
Table 42: INFINITI SMART - MTHFR - Product Status 49
Table 43: INFINITI SMART - MTHFR - Product Description 50
Table 44: INFINITI System Assay For Factor II - Product Status 50
Table 45: INFINITI System Assay For Factor II - Product Description 50
Table 46: INFINITI System Assay For Factor II-V Leiden - Product Status 51
Table 47: INFINITI System Assay For Factor II-V Leiden - Product Description 51
Table 48: INFINITI System Assay For Factor V Leiden - Product Status 52
Table 49: INFINITI System Assay For Factor V Leiden - Product Description 52
Table 50: Avellino Lab USA, Inc. Pipeline Products & Ongoing Clinical Trials Overview 53
Table 51: Keratoconus Screening Test - Product Status 53
Table 52: Keratoconus Screening Test - Product Description 53
Table 53: Baylor College of Medicine Pipeline Products & Ongoing Clinical Trials Overview 54
Table 54: Diagnostic Assay - Rett Syndrome - Product Status 54
Table 55: Diagnostic Assay - Rett Syndrome - Product Description 54
Table 56: BCML GmbH Pipeline Products & Ongoing Clinical Trials Overview 55
Table 57: Prenatal Diagnosis Biochip - Product Status 55
Table 58: Prenatal Diagnosis Biochip - Product Description 55
Table 59: BioCeps (Inactive) Pipeline Products & Ongoing Clinical Trials Overview 56
Table 60: Prenatal Diagnostic Test - Product Status 56
Table 61: Prenatal Diagnostic Test - Product Description 56
Table 62: Celula Inc Pipeline Products & Ongoing Clinical Trials Overview 57
Table 63: Non-Invasive Pre-Natal Test - Product Status 57
Table 64: Non-Invasive Pre-Natal Test - Product Description 57
Table 65: Children's Hospital Boston Pipeline Products & Ongoing Clinical Trials Overview 58
Table 66: Diagnostic Assay - Cystic Fibrosis - Product Status 58
Table 67: Diagnostic Assay - Cystic Fibrosis - Product Description 58
Table 68: Diagnostic Assay - Developmental Delay - Product Status 59
Table 69: Diagnostic Assay - Developmental Delay - Product Description 59
Table 70: Cincinnati Children's Hospital Medical Center Pipeline Products & Ongoing Clinical Trials Overview 60
Table 71: Diagnostic Assay - Asthma - Product Status 60
Table 72: Diagnostic Assay - Asthma - Product Description 61
Table 73: Diagnostic Assay - Crohn’s Disease - Product Status 61
Table 74: Diagnostic Assay - Crohn’s Disease - Product Description 61
Table 75: Diagnostic Biomarker - Biliary Atresia - Product Status 62
Table 76: Diagnostic Biomarker - Biliary Atresia - Product Description 62
Table 77: Fetal Maturity Assessment Test - Product Status 62
Table 78: Fetal Maturity Assessment Test - Product Description 63
Table 79: Gene Chip Based Diagnostic Test - Liver Diseases - Product Status 63
Table 80: Gene Chip Based Diagnostic Test - Liver Diseases - Product Description 63
Table 81: Genetic Marker Diagnostic Test - Food Allergy - Product Status 64
Table 82: Genetic Marker Diagnostic Test - Food Allergy - Product Description 64
Table 83: Columbia University Pipeline Products & Ongoing Clinical Trials Overview 65
Table 84: Biomarker-Based Diagnostic Test - Autism - Product Status 65
Table 85: Biomarker-Based Diagnostic Test - Autism - Product Description 65
Table 86: Diagnostic Biomarker Test - Schizophrenia - Product Status 66
Table 87: Diagnostic Biomarker Test - Schizophrenia - Product Description 66
Table 88: Da An Gene Co Ltd Pipeline Products & Ongoing Clinical Trials Overview 67
Table 89: Real Time PCR Kit - Alpha-Mediterranean Anaemia - Product Status 67
Table 90: Real Time PCR Kit - Alpha-Mediterranean Anaemia - Product Description 68
Table 91: Real Time PCR Kit - Beta-Mediterranean Anaemia - Product Status 68
Table 92: Real Time PCR Kit - Beta-Mediterranean Anaemia - Product Description 68
Table 93: Deutsches Institut fur Ernahrungsforschung Pipeline Products & Ongoing Clinical Trials Overview 69
Table 94: Diagnostic Test - Obesity Associated Diabetes - Product Status 69
Table 95: Diagnostic Test - Obesity Associated Diabetes - Product Description 69
Table 96: Epinex Diagnostics, Inc. Pipeline Products & Ongoing Clinical Trials Overview 70
Table 97: Down Syndrome Screen Test - Product Status 70
Table 98: Down Syndrome Screen Test - Product Description 70
Table 99: Fina Biotech Pipeline Products & Ongoing Clinical Trials Overview 71
Table 100: Dx Restenosis - Product Status 71
Table 101: Dx Restenosis - Product Description 71
Table 102: Firalis SAS Pipeline Products & Ongoing Clinical Trials Overview 72
Table 103: Prognostic miRNA Assay - Heart Failure - Product Status 72
Table 104: Prognostic miRNA Assay - Heart Failure - Product Description 72
Table 105: Fluidigm Corp Pipeline Products & Ongoing Clinical Trials Overview 73
Table 106: Non-Invasive Prenatal Diagnostic Test - Fetal Aneuploidies - Product Status 73
Table 107: Non-Invasive Prenatal Diagnostic Test - Fetal Aneuploidies - Product Description 74
Table 108: Fraunhofer-Gesellschaft zur Forderung der Angewandten Forschung eV Pipeline Products & Ongoing Clinical Trials Overview 75
Table 109: Biomarker Based Diagnostic Assay - COPD - Product Status 75
Table 110: Biomarker Based Diagnostic Assay - COPD - Product Description 75
Table 111: Genekam Biotechnology AG Pipeline Products & Ongoing Clinical Trials Overview 76
Table 112: Rotavirus Genotyping PCR Kit - Product Status 76
Table 113: Rotavirus Genotyping PCR Kit - Product Description 76
Table 114: Genentech Inc Pipeline Products & Ongoing Clinical Trials Overview 77
Table 115: Arbaclofen Companion Diagnostic Assay - Product Status 77
Table 116: Arbaclofen Companion Diagnostic Assay - Product Description 77
Table 117: Genetic Analysis AS Pipeline Products & Ongoing Clinical Trials Overview 78
Table 118: GA-map Diabetes II - Product Status 78
Table 119: GA-map Diabetes II - Product Description 79
Table 120: GA-map Obesity - Product Status 79
Table 121: GA-map Obesity - Product Description 79
Table 122: GENEWIZ Inc Pipeline Products & Ongoing Clinical Trials Overview 80
Table 123: Diagnostic Panel - Gut Microbiomes - Product Status 80
Table 124: Diagnostic Panel - Gut Microbiomes - Product Description 80

1.2 List of Figures
Figure 1: Inborn Gene or Chromosome Alterations - Pipeline Products by Stage of Development 22
Figure 2: Inborn Gene or Chromosome Alterations - Pipeline Products by Territory 23
Figure 3: Inborn Gene or Chromosome Alterations - Pipeline Products by Regulatory Path 24
Figure 4: Inborn Gene or Chromosome Alterations - Pipeline Products by Estimated Approval Date 25
Figure 5: Inborn Gene or Chromosome Alterations - Ongoing Clinical Trials 26