Test Catalogue August 2019 www.centogene.com/catalogue Table of Contents CENTOGENE CLINICAL DIAGNOSTIC PRODUCTS AND SERVICES › Whole Exome Testing 4 › Whole Genome Testing 5 › Genome wide CNV Analysis 5 › Somatic Mutation Analyses 5 › Biomarker Testing, Biochemical Testing 6 › Prenatal Testing 7 › Additional Services 7 › Metabolic Diseases 9 - 21 › Neurological Diseases 23 - 47 › Ophthalmological Diseases 49 - 55 › Ear, Nose and Throat Diseases 57 - 61 › Bone, Skin and Immune Diseases 63 - 73 › Cardiological Diseases 75 - 79 › Vascular Diseases 81 - 82 › Liver, Kidney and Endocrinological Diseases 83 - 89 › Reproductive Genetics 91 › Haematological Diseases 93 - 96 › Malformation and/or Retardation Syndromes 97 - 107 › Oncogenetics 109 - 113 ® › CentoXome - Sequencing targeting exonic regions of ~20.000 genes Test Test name Description code CentoXome® Solo Medical interpretation/report of WES findings for index 50029 CentoXome® Solo - Variants Raw data; fastQ, BAM, Vcf files along with variant annotated file in xls format for index 50028 CentoXome® Solo - with CNV Medical interpretation/report of WES including CNV findings for index 50103 Medical interpretation/report of WES in index, package including genome wide analyses of structural/ CentoXome® Solo - with sWGS 50104 large CNVs through sWGS Medical interpretation/report of WES in index, package including genome wide analyses of structural/ CentoXome® Solo - with aCGH 750k 50122 large CNVs through 750k microarray Medical interpretation/report of WES in index, package including genome wide analyses of structural/ CentoXome® Solo - with aCGH HD 50123 large CNVs through 2.6 Mio HD microarray CentoXome® Solo - with Mitochondrial Genome Medical interpretation/report of WES and mitochondrial genome findings for index 50031 CentoXome® Solo - with CNV and Mitochondrial Genome Medical interpretation/report of WES including CNV and mitochondrial genome findings for index 50105 Medical interpretation/report, collective analysis of WES data from index +1 additional family member, CentoXome® Duo 50111 individual report for each member is provided with respect to the findings in the index patient CentoXome® Duo - Variants Raw data; fastQ, BAM, Vcf files along with variant annotated file in xls format, collectively for Duo 50110 Medical interpretation/report, collective analysis of WES data including CNV from index +1 additional CentoXome® Duo - with CNV family member, individual report for each member is provided with respect to the findings in the index 50112 patient Medical interpretation/report, collective analysis of WES from index +1 additional family member, CentoXome® Duo - with sWGS package including genome wide analyses of structural/large CNVs through sWGS for index. Individual 50113 report for each member is provided with respect to the findings in the index Medical interpretation/report, collective analysis of WES from index +1 additional family member, package including genome wide analyses of structural/large CNVs through 750k microarray, CentoXome® Duo - with aCGH 750k 50114 respectively for index. Individual report for each member is provided with respect to the findings in the index Medical interpretation/report, collective analysis of WES from index +1 additional family member, package including genome wide analyses of structural/large CNVs through 750k microarray or 2.6 Mio CentoXome® Duo - with aCGH HD 50115 HD microarray, respectively for index. Individual report for each member is provided with respect to the findings in the index Medical interpretation/report, collective analysis of WES from index +1 additional family member, CentoXome® Duo - with Mitochondrial Genome mitochondrial genome of index patient and the maternal sample are analyzed, individual report for 50116 each member is provided with respect to the findings in the index patient Medical interpretation/report, collective analysis of WES including CNV from index +1 additional family CentoXome® Duo - with CNV and Mitochondrial Genome member, mitochondrial genome of index patient and the maternal sample are analyzed, individual 50117 report for each member is provided with respect to the findings in the index patient Medical interpretation/report, collective analysis of WES data from index +2 additional family members, CentoXome® Trio 50035 individual report for each member is provided with respect to the findings in the index patient CentoXome® Trio - Variants Raw data; fastQ, BAM, Vcf files along with variant annotated file in xls format, collectively for Trio 50034 Medical interpretation/report, collective analysis of WES data including CNV from index +2 additional CentoXome® Trio - with CNV family members, individual report for each member is provided with respect to the findings in the 50106 index patient Medical interpretation/report, collective analysis of WES from index +2 additional family members, CentoXome® Trio - with sWGS package including genome wide analyses of structural/large CNVs through sWGS for index. Individual 50107 report for each member is provided with respect to the findings in the index Medical interpretation/report, collective analysis of WES from index +2 additional family members, CentoXome® Trio - with aCGH 750k package including genome wide analyses of structural/large CNVs through 750k microarray for index. 50124 Individual report for each member is provided with respect to the findings in the index Medical interpretation/report, collective analysis of WES from index +2 additional family members, CentoXome® Trio - with aCGH HD package including genome wide analyses of structural/large CNVs through 2.6 Mio HD microarray for 50125 index. Individual report for each member is provided with respect to the findings in the index Medical interpretation/report, collective analysis of WES from index +2 additional family members, CentoXome® Trio - with Mitochondrial Genome mitochondrial genome of index patient and the maternal sample are analyzed, individual report for 50037 each member is provided with respect to the findings in the index patient Medical interpretation/report, collective analysis of WES including CNV from index +2 additional family CentoXome® Trio - with CNV and Mitochondrial Genome members, mitochondrial genome of index patient and the maternal sample are analyzed, individual 50108 report for each member is provided with respect to the findings in the index patient Additional affected family member is analyzed together with Trio WES, individual report for additional CentoXome® PLUS 50038 member is provided with respect to the findings in the index patient Additional affected family member is analyzed for WES including CNV together with Trio WES, CentoXome® PLUS - with CNV 50109 individual report for additional member is provided with respect to the findings in the index patient Page 4 V73_3_August 2019 ® › CentoGenome - Sequencing of exonic and intronic regions of ~20.000 genes Test name Description Test code CentoGenome® Solo Medical interpretation/report of WGS for index 50056 CentoGenome® Solo - Variants Raw data; fastQ, BAM, Vcf files along with variant annotated file in xls format for index 50055 CentoGenome® Solo - with Mitochondrial Genome Medical interpretation/report of WES including mitochondrial genome findings for index 50058 Medical interpretation/report, collective analysis of WGS data from index +1 additional family member, 50120 CentoGenome® Duo individual report for each member is provided with respect to the findings in the index patient CentoGenome® Duo - Variants Raw data; fastQ, BAM, Vcf files along with variant annotated file in xls format, collectively for Duo 50119 Medical interpretation/report, collective analysis of WGS from index +1 additional family member, CentoGenome® Duo - with Mitochondrial Genome mitochondrial genome of index patient and the maternal sample are analyzed, individual report for 50121 each member is provided with respect to the findings in the index patient Medical interpretation/report, collective analysis of WGS data from index +2 additional family members, CentoGenome® Trio 50059 individual report for each member is provided with respect to the findings in the index patient CentoGenome® Trio - Variants Raw data; fastQ, BAM, Vcf files along with variant annotated file in xls format, collectively for Trio 50095 Medical interpretation/report, collective analysis of WGS from index +2 additional family members, CentoGenome® Trio - with Mitochondrial Genome mitochondrial genome of index patient and the maternal sample are analyzed, individual report for 50061 each member is provided with respect to the findings in the index patient Additional affected family member is analyzed together with Trio WGS, individual report for CentoGenome® PLUS 50062 additional member is provided with respect to the findings in the index patient Raw data, only fastq files provided for Tumor/Normal sample pair, tumor sample is analyzed at a CentoGenome® Somatic 50078 mean coverage of 90x, corresponding normal tissue is analyzed at a mean coverage of 30x › Genome wide CNV Analysis Test Test name Description code CentoLCV® Medical interpretation/report for structural variants (large CNVs) through sWGS 50122 Medical interpretation/report for structural variants through 750k genome wide microarray CentoArray Cyto® 750K 50068 based on Affymetrix Platform Medical interpretation/report for structural variants through 2.6 Mio High Density genome wide CentoArray Cyto® HD 50001 microarray based on Affymetrix Platform › Somatic Mutation Analyses