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TEST CATALOGUE October 2020 ACHIEVING a POSITIVE CHANGE

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TEST CATALOGUE October 2020 ACHIEVING A POSITIVE CHANGE ... CENTOGENE IS DEDICATED TO TRANSFORMING THE SCIENCE OF GENETIC INFORMATION INTO SOLUTIONS AND HOPE FOR PATIENTS WITH RARE DISEASES AND THEIR FAMILIES. BOSTON We achieve this by: › Leveraging the world’s largest database in rare genetic disorders with genetic, proteomic, metabolomic, and clinical information – CentoMD® › Applying our knowledge derived from our global diagnostic testing services – addressing the worldwide heterogeneity in ethnicities › Guaranteeing the highest quality in our processes based on the highest level of accreditation OUR GLOBAL FOOTPRINT The outcome of growth and expansion at CENTOGENE is the inauguration of new locations. As a cosmopolitan company, we have a strong international footprint. ROSTOCK HAMBURG BERLIN DELHI FRANKFURT VIENNA DUBAI SOLID GROWTH IN JUST OVER A DECADE Metabolomic Oncogenetic Biomarkers MLPA >180 NGS panels platform testing CentoCard® qPCR Whole exome 2006 The logistic solution sequencing Diagnostics in neurogenetic diseases Non-invasive Carrier > 9,000 Whole genome prenatal testing screening different test sequencing 2016 (CentoNIPT®) (CentoScreen®) assays CentoMD® Proteomic Microarrays High throughput Transcriptomics The mutation platform genomic facility 2018 database iPSC program IPO Artificial Intelligence 2020+ initiative 2019 Providing world-class genetic testing and life-changing solutions for all rare disease patients 2019 WHAT DRIVES CENTOGENE Our goal: providing precise medical diagnosis of inherited diseases at the earliest possible moment; transforming medical expertise and analytical information into actionable results for physicians, patients, and pharmaceutical partners. Our commitment: life-long support for our patients and partners - driven by the continuous improvement of our diagnostic quality and therapeutic options for individual patients. Our work does not end by just delivering a medical diagnosis. Over 60 medical experts, human geneticists, and researchers work together with clinical, medical, and scientific partners worldwide. Strategic pharmaceutical alliances in the orphan drug sector PROVEN BY NUMBERS Have a look behind the scenes. Not all company value can be seen at first sight. Convincing numbers that underline CENTOGENE’s leading position as a global biotech company are found everywhere. 7 13 > 50 GLOBAL AFFILIATIONS TECHNOLOGICAL PLATFORMS NATIONALITIES OF OUR EMPLOYEES SAMPLES FROM MORE THAN > 120 550 > 7,500 COUNTRIES WORLDWIDE EMPLOYEES CONFIRMED CASES OF FABRY DISEASE > 150,000 12.7 3.7 SAMPLES RECEIVED MILLION UNIQUE VARIANTS BILLION ALLELES JAN – DEC 2019 IN CentoMD® IDENTIFIED IN CentoMD® TABLE OF CONTENTS CENTOGENE clinical diagnostic products and services › GENOMIC TESTING AND OTHER SERVICES 11 › METABOLIC DISORDERS 17 › NEUROLOGY 31 › OPHTHALMOLOGY 57 › EAR, NOSE AND THROAT 65 › OSTEOLOGY, DERMATOLOGY AND IMMUNOLOGY 69 › CARDIOVASCULAR AND PNEUMOLOGY 81 › VASCULAR DISEASES 87 › HEPATOLOGY, NEPHROLOGY AND ENDOCRINOLOGY 91 › REPRODUCTIVE GENETICS 99 › HEMATOLOGY 103 › DYSMORPHOLOGY 107 › ONCOLOGY 117 GENOMIC TESTING AND OTHER SERVICES GAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTG GCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAA GTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAG GGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACT TGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACG GAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGG GAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACC TTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGT AAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTT TCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAG ACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGC AGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCC CCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCC GAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTG GCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAA GTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAG GGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACT TGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACG GAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGG GAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACC TTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGT AAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTT TCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAG ACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGC AGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCC CCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCC GAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTG GCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAA GTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAG GGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACT TGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACG GAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGG GAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACC TTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGT AAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTT TCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAG ACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGC AGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCC CCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCC GAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTG GCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAA GTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAG GGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACT TGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACG GAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGG GAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACC TTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGT AAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTT TCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAG ACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGC AGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCC CCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCC GAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTG GCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAA GTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAG GGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACT TGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACG GAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGG GAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACC TTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGT AAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTT TCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAG ACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGC AGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCC CCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCC GENOMIC TESTING WHOLE GENOME SEQUENCING SEQUENCING OF NON- AND CODING REGIONS OF ~20.000 GENES TEST TEST NAME DESCRIPTION CODE CentoGenome® Solo Next generation sequencing + CNV + mtDNA + medical report for index, raw data for download 50058 Next generation sequencing + CNV + mtDNA + medical report for index and one additional family CentoGenome® Duo 50183 member, raw data for download Next generation sequencing + CNV + mtDNA + medical report for index and two additional family CentoGenome® Trio 50061 members, raw data for download Next generation sequencing + CNV analysis + mtDNA + additional family member beyond Trio is CentoGenome® PLUS 50169 analyzed and reported together with Trio, raw data for download Next generation sequencing + raw data as per FASTQ, BAM and VCF files, along with filtered and CentoGenome® Solo - Variants 50055 annotated variant file in XLS format for index Next generation sequencing +raw data as per FASTQ, BAM and VCF files, along with filtered and CentoGenome® Duo - Variants 50119 annotated variant file in XLS format collectively for DUO Next generation sequencing +raw data as per FASTQ, BAM and VCF files, along with filtered and CentoGenome® Trio - Variants 50095 annotated variant file in XLS format collectively for Trio Next generation sequencing + raw data as per FASTQ, BAM and VCF files for the additional family CentoGenome® PLUS - Variants member beyond Trio, along with filtered and annotated variant file in XLS format collectively for 50168 Trio PLUS WHOLE EXOME SEQUENCING SEQUENCING TARGETING CODING REGIONS OF ~20.000 GENES TEST TEST NAME DESCRIPTION CODE CentoXome® Solo Next generation sequencing + CNV + medical report for index, raw data for download 50135 Next generation sequencing + CNV + medical report for index and one additional family member, CentoXome® Duo 50177 raw data for download Next generation sequencing + CNV + medical report for index and two additional family members, CentoXome® Trio 50137 raw data for download Next generation sequencing + CNV + additional family member beyond Trio is analyzed and CentoXome® PLUS 50138 reported together with Trio, raw data for download Next generation sequencing + raw data as per FASTQ, BAM and VCF files, along with filtered and CentoXome® Solo - Variants 50028 annotated variant file in XLS format for index Next generation sequencing + raw data as per FASTQ, BAM and VCF files, along with filtered and CentoXome® Duo - Variants 50110 annotated variant file in XLS format
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    Orphanet Report Series Rare Diseases Collection

    Marche des Maladies Rares – Alliance Maladies Rares Orphanet Report Series Rare Diseases collection DecemberOctober 2013 2009 List of rare diseases and synonyms Listed in alphabetical order www.orpha.net 20102206 Rare diseases listed in alphabetical order ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 289157 1-alpha-hydroxylase deficiency 309127 3-hydroxyacyl-CoA dehydrogenase 228384 5q14.3 microdeletion syndrome deficiency 293948 1p21.3 microdeletion syndrome 314655 5q31.3 microdeletion syndrome 939 3-hydroxyisobutyric aciduria 1606 1p36 deletion syndrome 228415 5q35 microduplication syndrome 2616 3M syndrome 250989 1q21.1 microdeletion syndrome 96125 6p subtelomeric deletion syndrome 2616 3-M syndrome 250994 1q21.1 microduplication syndrome 251046 6p22 microdeletion syndrome 293843 3MC syndrome 250999 1q41q42 microdeletion syndrome 96125 6p25 microdeletion syndrome 6 3-methylcrotonylglycinuria 250999 1q41-q42 microdeletion syndrome 99135 6-phosphogluconate dehydrogenase 67046 3-methylglutaconic aciduria type 1 deficiency 238769 1q44 microdeletion syndrome 111 3-methylglutaconic aciduria type 2 13 6-pyruvoyl-tetrahydropterin synthase 976 2,8 dihydroxyadenine urolithiasis deficiency 67047 3-methylglutaconic aciduria type 3 869 2A syndrome 75857 6q terminal deletion 67048 3-methylglutaconic aciduria type 4 79154 2-aminoadipic 2-oxoadipic aciduria 171829 6q16 deletion syndrome 66634 3-methylglutaconic aciduria type 5 19 2-hydroxyglutaric acidemia 251056 6q25 microdeletion syndrome 352328 3-methylglutaconic
  • Mackenzie's Mission Gene & Condition List

    Mackenzie's Mission Gene & Condition List

    Mackenzie’s Mission Gene & Condition List What conditions are being screened for in Mackenzie’s Mission? Genetic carrier screening offered through this research study has been carefully developed. It is focused on providing people with information about their chance of having children with a severe genetic condition occurring in childhood. The screening is designed to provide genetic information that is relevant and useful, and to minimise uncertain and unclear information. How the conditions and genes are selected The Mackenzie’s Mission reproductive genetic carrier screen currently includes approximately 1300 genes which are associated with about 750 conditions. The reason there are fewer conditions than genes is that some genetic conditions can be caused by changes in more than one gene. The gene list is reviewed regularly. To select the conditions and genes to be screened, a committee comprised of experts in genetics and screening was established including: clinical geneticists, genetic scientists, a genetic pathologist, genetic counsellors, an ethicist and a parent of a child with a genetic condition. The following criteria were developed and are used to select the genes to be included: • Screening the gene is technically possible using currently available technology • The gene is known to cause a genetic condition • The condition affects people in childhood • The condition has a serious impact on a person’s quality of life and/or is life-limiting o For many of the conditions there is no treatment or the treatment is very burdensome for the child and their family. For some conditions very early diagnosis and treatment can make a difference for the child.