Table of Content


Chapter 1 Introduction
Study Goals and Objectives
Reasons for Doing the Study
Scope of Report
Methodology
Information Sources
Geographical Breakdown
Analyst’s Credentials
Chapter 2 Summary and Highlights
Chapter 3 Overview
Rare Disease Diagnostic Technologies and Markets
Large-Scale Initiatives and Consortia
Rare Disease Diagnostics Market Driving Forces
Global Rare Disease Diagnostics Markets
Chapter 4 Technology Background
Rare Diseases
Rare Disease Diagnostics Key Genetic Analysis Platforms
Sanger Sequencing
Next-Generation Sequencing
Polymerase Chain Reaction
Chapter 5 Rare Disease Diagnostics Initiatives
BabySeq
Blood Profiling Atlas
Cancer-ID
Cancer Moon Shots Program
China Precision Medicine Initiative
ClinGen
ClinVar
Ending the Diagnostic Odyssey Act
EpiFemCare
France Genomic Medicine Plan
Friends of Cancer Research Project
Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease
Integration of Imaging and Fluid-Based Tumor Monitoring in Cancer Therapy Program
Liquid Biopsies and Imaging for Improved Cancer Care
Matchmaker Exchange
Million Veteran Program
MIND
MedSeq
Precancer Atlas
Precision Medicine Initiative
Prompt
QuIP
TopMed
Treehouse Childhood Cancer Initiative
Very Rare Cancer Consortium
Population Sequencing Programs
Chapter 6 Rare Disease Diagnostic Industries
Sequencing Instrument Industry
Long-Read Sequencing Industry
Sequencing Informatic Industry
Polymerase Chain Reaction Industry
Genomic Medicines: Gene Therapy Industry
Genomic Medicines: Genetically Modified Cell Therapy Industry
Genomic Medicines: Gene Editing Therapy Industry
Genomic Medicines: RNA Therapy Industry
Rare Disease Diagnostics Artificial Intelligence Industry
Chapter 7 Rare Disease Diagnostics Strategic Alliances and Acquisitions
Acquisitions
Strategic Alliances
Key Trends
Alliance Summaries
Chapter 8 Rare Disease Diagnostics Markets
Rare Disease Diagnostics Market Driving Forces
Pressing Medical Need
Orphan Drug Act
Extensive Late-Stage Clinical Pipeline of Innovative Rare Disease Medicines
Rare Disease Initiatives
Rare Disease Diagnostics Markets
Cardiovascular
Central Nervous System
Metabolic and Endocrine Disorders
Hematology
Immune System and Inflammation-Related Disorders
Musculoskeletal
Ophthalmology
Rare Cancers
Respiratory
Mass Spectrometry
Microarray
Next Generation Sequencing
Polymerase Chain Reaction
Sanger Sequencing
Other
Single Genes
Multiple Genes
Whole Genome and Whole Exome Market
Other Genomic Variants
Proteins
Screening and Early Detection Market
Diagnosis Market
Therapy Guidance Market
Monitoring Market
North America
Europe
Asia-Pacific
Rest of the World
Chapter 9 Rare Disease Diagnostics Patents and Intellectual Property
Rare Disease Diagnostics Patents
Related Gene Editing Patents
Gene-Editing Patents: Sangamo Case Study
Gene Therapy Delivery Patents
RNA Therapy-Related Patents
CAR T-Cell Patents
Chapter 10 Company Profiles
3BILLION INC.
23ANDME INC.
10X GENOMICS INC.
ADAPTIVE BIOTECHNOLOGIES INC.
ADMERA HEALTH
AGILENT TECHNOLOGIES INC.
ALCEDIAG
AMARANTUS BIOSCIENCE HOLDINGS INC.
AMBRY GENETICS
ARCHIMEDLIFE LABORATORIES
ARUP LABORATORIES
ASTRIDBIO TECHNOLOGIES KFT.
ASURAGEN INC.
ATHENA DIAGNOSTICS INC.
BASE4 INNOVATION LTD.
BAYLOR GENETICS
BC PLATFORMS
BERRY GENOMICS CO., LTD.
BGI SHENZHEN
BIOCEPT INC.
BIO-RAD LABORATORIES INC.
CEGAT GMBH
CELLMAX LIFE
CELSEE DIAGNOSTICS
CENTOGENE AG
CERGENTIS B.V.
DANAHER CORP.
DANTE LABS
DEVYSER AB
DIACARTA INC.
DIPLOID
DIRECTED GENOMICS LLC
DNANEXUS INC.
ELECTRONIC BIOSCIENCES
EPIC SCIENCES INC.
EUROFINS SCIENTIFIC
EXPEDEON AG
FABRIC GENOMICS
FREENOME INC.
FULGENT GENETICS
FUSION GENOMICS CORP.
GENAPSYS INC.
GENEDX INC.
GENEMIND BIOSCIENCES CO., LTD.
GENETICS RESEARCH LLC
GENOMATIX SOFTWARE GMBH
GENOMENON
GENOMIC EXPRESSION
GENOME PROFILING LLC
GENOMNIA SRL
GENOMONCOLOGY
GENOSPACE
GENOOX
GENEXOSOME TECHNOLOGIES INC.
GIGAGEN INC.
GOLDEN HELIX
GRANDOMICS BIOSCIENCES CO., LTD.
GUARDIOME
HELIX OPCO LLC
HTG MOLECULAR DIAGNOSTICS INC.
ILLUMINA INC.
INVITAE INC.
KINGMED DIAGNOSTICS CENTER CO., LTD.
LABORATORY CORP. OF AMERICA INC.
LABORATORY FOR MOLECULAR MEDICINE
LEUCINE RICH BIO PVT., LTD.
LOOP GENOMICS
MACROGEN INC.
MAYO MEDICAL LABORATORIES
MEDGENOME LABS PVT., LTD.
MOLECULAR LOOP BIOSOLUTIONS LLC
MYRIAD GENETICS INC.
NEW ENGLAND BIOLABS
NEWGENE LTD.
NOSTROS GENOMICS
NOVOGENE CO., LTD.
OXFORD NANOPORE TECHNOLOGIES LTD.
PACIFIC BIOSCIENCES OF CALIFORNIA INC.
PERKINELMER INC.
PERSONAL GENOME DIAGNOSTICS INC.
PREVENTIONGENETICS INC.
Q-STATE BIOSCIENCES
QUANTAPORE INC.
QUANTUM BIOSYSTEMS INC.
QUEST DIAGNOSTICS INC.
REAL-TIME GENOMICS INC.
RETROPHIN
ROCHE HOLDING AG
SEVEN BRIDGES GENOMICS INC.
SISTEMAS GENOMICOS SL
SOFTGENETICS LLC
SOPHIA GENETICS
SPERA MEDICAL
STRAND LIFE SCIENCES PVT., LTD.
SUPRATECH MICROPATH LABORATORY & RESEARCH INSTITUTE PVT., LTD.
THERMO FISHER SCIENTIFIC INC.
TWIST BIOSCIENCE



List of Figures


Summary Figure : Global Rare Disease Diagnostics Market, by Disease Category, 2018-2024

 

List of Tables


Summary Table : Global Rare Disease Diagnostics Market, by Disease Category, Through 2024
Table 1 : Report Scope of Rare Disease Diagnostics
Table 2 : Impact of Large-Scale Initiatives on the Rare Disease Diagnostic Industry
Table 3 : Driving Forces of Rare Disease Diagnostics Industry Growth, Through 2024
Table 4 : Global Rare Disease Diagnostics Market, by Diagnostics Platform, Through 2024
Table 5 : Rare Disease Prevalence Definition in the U.S., Europe and Japan
Table 6 : Pathways for Accelerated Approval of Rare Disease Therapies, by Country/Region
Table 7 : Genetic Modification Approaches for Rare Diseases
Table 8 : Distinct Features of the Genetic Modification Approaches
Table 9 : Clinical Trials for Advanced Rare Disease Therapies, by Therapy Approach, December 2019
Table 10 : Clinical Trials for Advanced Rare Disease Therapies, by Disease Indication, December 2019
Table 11 : Rare Disease Diagnostics Key Genetic Analysis Platforms
Table 12 : Sanger Sequencing Summary
Table 13 : Sanger Sequencing Improvements
Table 14 : Advanced Sequencing Technologies
Table 15 : Illumina Next-Generation Sequencing Workflow
Table 16 : Thermo Fisher Next-Generation Sequencing Workflow
Table 17 : Main Ingredients for Polymerase Chain Reaction
Table 18 : Polymerase Chain Reaction Process Steps
Table 19 : Advantages of Droplet Digital Polymerase Chain Reaction for Single-Cell Analysis
Table 20 : Key Rare Disease Initiatives
Table 21 : Population Sequencing Projects
Table 22 : Advanced Sequencing Industry Company Positioning
Table 23 : End-to-End Sequencing Approaches
Table 24 : Market Focus of the Long-Read Sequencing Industry, by Company
Table 25 : Market Focus of Sequencing Informatic Industry, by Company
Table 26 : Market Focus of Polymerase Chain Reaction Industry, by Company
Table 27 : Gene Therapy Companies, 2020
Table 28 : Genetically Modified Cell Therapy Clinical Industry, 2020
Table 29 : Clinical Stage Gene Editing Industry, by Company
Table 30 : Competitive Platforms: ?-Thalassemia
Table 31 : Competitive Platforms: LCA
Table 32 : RNA Therapy Segments
Table 33 : RNA Therapies Industry, by Company
Table 34 : Rare Disease Diagnostics Artificial Intelligence Industry
Table 35 : Rare Disease Diagnostics Industry Acquisitions, April 2018-April 2020
Table 36 : Rare Disease Diagnostics Industry Strategic Alliances, April 2018-April 2020
Table 37 : Driving Forces for Rare Disease Diagnostic Growth
Table 38 : Global Market for Rare Disease Diagnostics, by Disease Class, Through 2024
Table 39 : Global Market for Rare Disease Diagnostics, by Analysis Platform, Through 2024
Table 40 : Global Market for Rare Disease Diagnostics, by Analysis Target, Through 2024
Table 41 : Global Market for Rare Disease Diagnostics, by Test Purpose, Through 2024
Table 42 : Next-Generation Sequencing-Based Preventive Genetic Screening Tests
Table 43 : Global Market for Rare Disease Diagnostics, by Region, Through 2024
Table 44 : Rare Disease Diagnostics Intellectual Property Focus
Table 45 : CRISPR-Cas9 Patent Groups
Table 46 : CRISPR-Cas9 Patent Licensing Fields
Table 47 : Sangamo Collaboration Agreements Relating to ZFN Technology, Through 2019
Table 48 : Sangamo Therapeutics Patent Position, 2020
Table 49 : Oxford BioMedica Key Patents, Through 2020
Table 50 : RNA Therapy Patents and Patent Applications, by Leading Companies, Through 2019
Table 51 : CAR T-Cell Patentable Technologies, 2015-2017
Table 52 : 23andMe: Data Generated by Platforms