ScopeMedizinisches Versorgungszentrum Venusberg GmbH Zentrum Medizinische Genetik
161 capabilities
Accredited since July 2025
Verified Oct 2026
One of 3,209 in Germany
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Details
Venusberg-Campus 1
Bonn 53127 , Germany
Bonn 53127 , Germany
Accreditation
Active
DAkkS
D-ML-20454-01-01
www.ukbonn.de/mvz/fachbereiche/mvz-medizinische...
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Specialises in molecular and cytogenetic human genetics testing, offering PCR-based and sequencing analyses including targeted panel testing and deletion/duplication detection on blood, DNA, and tissue samples.
Accreditation Details
Accreditation Body
DAkkS
Number
D-ML-20454-01-01
Status
ActiveSince
18 July 2025
Accreditation is granted under EU Regulation 765/2008 and assessed against ISO/IEC 17025. Data sourced from official DAkkS records.
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Test Capabilities (161)
| Standard Reference | Description | Category |
|---|---|---|
| Angeborener Chromosomensatz | angeborener Chromosomensatz | Biocompatibility (ISO 10993) |
| APC | APC | Clinical Chemistry |
| (Chromosomen 13, 18, 21, X, Y) | (Chromosomen 13, 18, 21, X, Y) | Molecular Diagnostics / PCR |
| (MEN2): RET | RET (MEN2) | Molecular Diagnostics / PCR |
| (gesamt): SERPING1/C1NH, Faktor | (gesamt): SERPING1/C1NH, Faktor | Molecular Diagnostics / PCR |
| ABCC9, ACTA1, ACTN2, AKAP9, ANK2, BAG3, CACNA1C, CACNA2D1, CACNB2, CALM1,CASQ2, CAV3, CSRP3, DES, DSG2, DSP, DTNA, EMD, GLA, GPD1L, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, NEXN, NKX2-5, PKP2, PLN, PRKAG2, RAF1, RANGRF, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SGCD, SNTA1, TAZ, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTR, VCL | ABCC9, ACTA1, ACTN2, AKAP9, ANK2, BAG3, CACNA1C, CACNA2D1, CACNB2, CALM1,CASQ2, CAV3, CSRP3, DES, DSG2, DSP, DTNA, EMD, GLA, GPD1L, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, NEXN, NKX2-5, PKP2, PLN, PRKAG2, RAF1, RANGRF, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SGCD, SNTA1, TAZ, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTR, VCL | Molecular Diagnostics / PCR |
| ACD, BAP1, CDK4, CDKN2A, MITF, POT1, PTEN, TERT, TP53 | ACD, BAP1, CDK4, CDKN2A, MITF, POT1, PTEN, TERT, TP53 | Molecular Diagnostics / PCR |
| ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFB2, TGFBR1, TGFBR2 | ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFB2, TGFBR1, TGFBR2 | Molecular Diagnostics / PCR |
| AIP | AIP | Molecular Diagnostics / PCR |
| APC, BMPR1A, BUB1B, MSH3, MUTYH, NTHL1, POLD1, POLE, PTEN, RPS20, SMAD4, STK11, TP53, AXIN2, GREM1, RNF43 | APC, BMPR1A, BUB1B, MSH3, MUTYH, NTHL1, POLD1, POLE, PTEN, RPS20, SMAD4, STK11, TP53, AXIN2, GREM1, RNF43 | Molecular Diagnostics / PCR |
| APC, BRCA2, PALB2, PTCH1, SUFU, TP53 | APC, BRCA2, PALB2, PTCH1, SUFU, TP53 | Molecular Diagnostics / PCR |
| APC, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE,PTCH1, SMARCE1, SUFU, TP53, NF1, NF2, TSC1, TSC2 | APC, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE,PTCH1, SMARCE1, SUFU, TP53, NF1, NF2, TSC1, TSC2 | Molecular Diagnostics / PCR |
| APC, DICER1, ESR2, PRKAR1A, PTEN, RET, SDHB, SDHC, SDHD, TP53 | APC, DICER1, ESR2, PRKAR1A, PTEN, RET, SDHB, SDHC, SDHD, TP53 | Molecular Diagnostics / PCR |
| APP, PSEN1, PSEN2 (Hereditäre Alzheimer Demenz) | APP, PSEN1, PSEN2 (Hereditäre Alzheimer Demenz) | Molecular Diagnostics / PCR |
| ATM | ATM | Molecular Diagnostics / PCR |
| ATM, BRCA1, BRCA2, CDKN2A, PALB2, STK11, TP53 | ATM, BRCA1, BRCA2, CDKN2A, PALB2, STK11, TP53 | Molecular Diagnostics / PCR |
| AZF (Männliche Infertilität) | AZF (Männliche Infertilität) | Molecular Diagnostics / PCR |
| Aneuploidien | Aneuploidien | Molecular Diagnostics / PCR |
| Ataxia-telangiectasia (Louis-Bar- Syndrom): ATM | Ataxia-telangiectasia (Louis-Bar- Syndrom): ATM | Molecular Diagnostics / PCR |
| BAP1 (BAP1-Tumorprädispositions- Syndrom) | BAP1 (BAP1-Tumorprädispositions- Syndrom) | Molecular Diagnostics / PCR |
| BAP1, BHD/FLCN, FH, MET, PTEN, SDHB, SDHD, TP53, TSC1, TSC2, VHL, WT1 | BAP1, BHD/FLCN, FH, MET, PTEN, SDHB, SDHD, TP53, TSC1, TSC2, VHL, WT1 | Molecular Diagnostics / PCR |
| BAP1, CHEK2, EGFR, TP53 | BAP1, CHEK2, EGFR, TP53 | Molecular Diagnostics / PCR |
| BAP1-Tumorprädispositions- Syndrom (institutseigene Erweiterung des Illumina TruSight Cancer Panel): BAP1 | BAP1-Tumorprädispositions- Syndrom (institutseigene Erweiterung des Illumina TruSight Cancer Panel): BAP1 | Molecular Diagnostics / PCR |
| BHD/FLCN | BHD/FLCN | Molecular Diagnostics / PCR |
| BMPR1, SMAD4, PTEN (Juvenile Polyposis) | BMPR1, SMAD4, PTEN (Juvenile Polyposis) | Molecular Diagnostics / PCR |
| BRAF, HRAS, KRAS, NRAS (Noonan- Syndrom) | BRAF, HRAS, KRAS, NRAS (Noonan- Syndrom) | Molecular Diagnostics / PCR |
| BRCA1 (HBOC) | BRCA1 (HBOC) | Molecular Diagnostics / PCR |
| BRCA1, BRCA2, ATM, CHEK2, PALB2, RAD51C, RAD51D, BRIP1, EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE, RAD51D, STK11, TP53 | BRCA1, BRCA2, ATM, CHEK2, PALB2, RAD51C, RAD51D, BRIP1, EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE, RAD51D, STK11, TP53 | Molecular Diagnostics / PCR |
| BRCA1, BRCA2, CHEK2, PALB2; HOXB13 (Mut. G84E) | BRCA1, BRCA2, CHEK2, PALB2; HOXB13 (Mut. G84E) | Molecular Diagnostics / PCR |
| BRCA2, CHEK2 (HBOC) | BRCA2, CHEK2 (HBOC) | Molecular Diagnostics / PCR |
| Bannayan-Ruvalcaba-Riley-Syndrom | Bannayan-Ruvalcaba-Riley-Syndrom | Molecular Diagnostics / PCR |
| Birt-Hogg-Dubé-Syndrom | Birt-Hogg-Dubé-Syndrom | Molecular Diagnostics / PCR |
| Blastom (institutseigene Erweiterung des Illumina TruSight Cancer Panel): DICER1 | Blastom (institutseigene Erweiterung des Illumina TruSight Cancer Panel): DICER1 | Molecular Diagnostics / PCR |
| Brustkrebs bei V. a. anderes | Brustkrebs bei V. a. anderes | Molecular Diagnostics / PCR |
| CDH1 | CDH1 | Molecular Diagnostics / PCR |
| CDH1, CTNNA1, EPCAM, MLH1, MSH2, MSH6, PMS2, SMAD4, STK11, TP53 | CDH1, CTNNA1, EPCAM, MLH1, MSH2, MSH6, PMS2, SMAD4, STK11, TP53 | Molecular Diagnostics / PCR |
| CDKN1B, MEN1 | CDKN1B, MEN1 | Molecular Diagnostics / PCR |
| CDKN2A, CDK4 | CDKN2A, CDK4 | Molecular Diagnostics / PCR |
| CFTR (Mukoviszidose, CBAVD) | CFTR (Mukoviszidose, CBAVD) | Molecular Diagnostics / PCR |
| CLOVES-Syndrom (institutseigene Erweiterung des Illumina TruSight Cancer Panel): PIK3CA | CLOVES-Syndrom (institutseigene Erweiterung des Illumina TruSight Cancer Panel): PIK3CA | Molecular Diagnostics / PCR |
| COL3A1 (Ehlers-Danlos-Syndrom) | COL3A1 (Ehlers-Danlos-Syndrom) | Molecular Diagnostics / PCR |
| COL5A1, COL5A2 (Ehlers-Danlos- Syndrom) | COL5A1, COL5A2 (Ehlers-Danlos- Syndrom) | Molecular Diagnostics / PCR |
| CYLD | CYLD | Molecular Diagnostics / PCR |
| Cancer Panel): ACVRL1, ENG, SMAD4 | Neoplasie, Typ 1/4 (institutseigene Erweiterung des Illumina TruSight Cancer Panel): MEN1, CDKN1B, CDC73 (HRPT2) | Molecular Diagnostics / PCR |
| Carney-Komplex (institutseigene Erweiterung des Illumina TruSight Cancer Panel): PRKAR1A, STK11 | Carney-Komplex (institutseigene Erweiterung des Illumina TruSight Cancer Panel): PRKAR1A, STK11 | Molecular Diagnostics / PCR |
| Cowden-Syndrom (institutseigene Erweiterung des Illumina TruSight Cancer Panel): PTEN, AKT1, PIK3CA, SEC23B | Cowden-Syndrom (institutseigene Erweiterung des Illumina TruSight Cancer Panel): PTEN, AKT1, PIK3CA, SEC23B | Molecular Diagnostics / PCR |
| Cystische Fibrose/Mukoviszidose, CBAVD (Illumina TruSight EBM Panel): CFTR | Cystische Fibrose/Mukoviszidose, CBAVD (Illumina TruSight EBM Panel): CFTR | Molecular Diagnostics / PCR |
| DMD (Muskeldystrophie Typ Duchenne/Becker) | DMD (Muskeldystrophie Typ Duchenne/Becker) | Molecular Diagnostics / PCR |
| Demenz | Demenz | Molecular Diagnostics / PCR |
| Dihydropyrimidin-Dehydrogenase - Testung (DPD)/5-FU-Toxizität: DPYD (dbSNP rs3918290, rs55886062, rs67376798, rs75017182) | Dihydropyrimidin-Dehydrogenase - Testung (DPD)/5-FU-Toxizität: DPYD (dbSNP rs3918290, rs55886062, rs67376798, rs75017182) | Molecular Diagnostics / PCR |
| ELN, LIMK1 (Williams Beuren Syndrom) | ELN, LIMK1 (Williams Beuren Syndrom) | Molecular Diagnostics / PCR |
| EPCAM, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, TP53 | EPCAM, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, TP53 | Molecular Diagnostics / PCR |
| EXT1, EXT2 | EXT1, EXT2 | Molecular Diagnostics / PCR |
| EXT1, EXT2 (Multiple Exostosis) | EXT1, EXT2 (Multiple Exostosis) | Molecular Diagnostics / PCR |
| Ehlers-Danlos-Syndrom (Illumina TruSight EBM Panel): COL3A1, COL5A1, COL5A2 | Ehlers-Danlos-Syndrom (Illumina TruSight EBM Panel): COL3A1, COL5A1, COL5A2 | Molecular Diagnostics / PCR |
| Eierstockkrebs (institutseigene Erweiterung des Illumina TruSight Cancer Panel): BRCA1, BRCA2; ATM, CHEK2, PALB2, RAD51C, RAD51D | Eierstockkrebs (institutseigene Erweiterung des Illumina TruSight Cancer Panel): BRCA1, BRCA2; ATM, CHEK2, PALB2, RAD51C, RAD51D | Molecular Diagnostics / PCR |
| Eiigkeitsbestimmung | Eiigkeitsbestimmung | Molecular Diagnostics / PCR |
| Endometriumkarzinom | Hereditäres Endometriumkarzinom | Molecular Diagnostics / PCR |
| Erblicher Darmkrebs | Erblicher Darmkrebs | Molecular Diagnostics / PCR |
| Erweiterung des Illumina TruSight | Erweiterung des Illumina TruSight | Molecular Diagnostics / PCR |
| FBN1 (Marfan-Syndrom) | FBN1 (Marfan-Syndrom) | Molecular Diagnostics / PCR |
| FH (Hereditärer Nierenkrebs) | FH (Hereditärer Nierenkrebs) | Molecular Diagnostics / PCR |
| FLCN (BHD, Birt-Hogg-Dubé- Syndrom) | FLCN (BHD, Birt-Hogg-Dubé- Syndrom) | Molecular Diagnostics / PCR |
| FMR1 | FMR1 | Molecular Diagnostics / PCR |
| GJB1, MPZ, PMP22 (CMT1/HMSN) | GJB1, MPZ, PMP22 (CMT1/HMSN) | Molecular Diagnostics / PCR |
| Gorlin-Syndrom/Basalzellnävus- Syndrom (institutseigene Erweiterung des Illumina TruSight Cancer Panel): PTCH1, SUFU | Gorlin-Syndrom/Basalzellnävus- Syndrom (institutseigene Erweiterung des Illumina TruSight Cancer Panel): PTCH1, SUFU | Molecular Diagnostics / PCR |
| HNF1A (TCF1) | HNF1A (TCF1) | Molecular Diagnostics / PCR |
| HNPCC/Lynch-Syndrom | HNPCC/Lynch-Syndrom | Molecular Diagnostics / PCR |
| Hereditäre Alzheimer Demenz: | Hereditäre Alzheimer-Demenz | Molecular Diagnostics / PCR |
| Hereditäre Frontotemporale | Hereditäre Frontotemporale | Molecular Diagnostics / PCR |
| Hereditäre Gastrointestinale | Hereditäre Gastrointestinale | Molecular Diagnostics / PCR |
| Hereditäre Multiple Endokrine | Hereditäre Multiple Endokrine | Molecular Diagnostics / PCR |
| Hereditäre Neurofibromatose Typ 1 | Hereditäre Neurofibromatose Typ 1 | Molecular Diagnostics / PCR |
| Hereditäre Neurofibromatose Typ 2 | Hereditäre Neurofibromatose Typ 2 | Molecular Diagnostics / PCR |
| Hereditäre Polyposis, gastrointestinal (institutseigene Erweiterung des Illumina TruSight Cancer Panel): APC, BMPR1A, MSH3, MUTYH, NTHL1, POLD1, POLE, PTEN, RNF43, SMAD4, STK11, AXIN2, BUB1B, GREM1 | Hereditäre Polyposis, gastrointestinal (institutseigene Erweiterung des Illumina TruSight Cancer Panel): APC, BMPR1A, MSH3, MUTYH, NTHL1, POLD1, POLE, PTEN, RNF43, SMAD4, STK11, AXIN2, BUB1B, GREM1 | Molecular Diagnostics / PCR |
| Hereditäre Schwannomatose | Hereditäre Schwannomatose | Molecular Diagnostics / PCR |
| Hereditäre Tuberöse Sklerose Typ | Hereditäre Tuberöse Sklerose Typ | Molecular Diagnostics / PCR |
| Hereditäre Zylindromatosis | Hereditäre Zylindromatosis | Molecular Diagnostics / PCR |
| Hereditärer Brust- und | Hereditärer Brust- und Eierstockkrebs | Molecular Diagnostics / PCR |
| Hereditärer Hirntumor | Hereditärer Hirntumor | Molecular Diagnostics / PCR |
| Hereditärer Magenkrebs | Hereditärer Magenkrebs | Molecular Diagnostics / PCR |
| Hereditärer Nierenkrebs | Hereditärer Nierenkrebs | Molecular Diagnostics / PCR |
| Hereditärer Schilddrüsenkrebs | Hereditärer Schilddrüsenkrebs | Molecular Diagnostics / PCR |
| Hereditärer Wilms-Tumor | Hereditärer Wilms-Tumor | Molecular Diagnostics / PCR |
| Hereditäres Angioödem Typ I-III | Hereditäres Angioödem Typ I-III | Molecular Diagnostics / PCR |
| Hereditäres Hepatisches Adenom | Hereditäres Hepatisches Adenom | Molecular Diagnostics / PCR |
| Hereditäres Lungenkarzinom | Hereditäres Lungenkarzinom | Molecular Diagnostics / PCR |
| Hereditäres Medulloblastom | Hereditäres Medulloblastom | Molecular Diagnostics / PCR |
| Hereditäres Melanom | Hereditäres Melanom | Molecular Diagnostics / PCR |
| Hereditäres Neuroblastom, hereditär (institutseigene Erweiterung des Illumina TruSight Cancer Panel): ALK, PHOX2B | Hereditäres Neuroblastom, hereditär (institutseigene Erweiterung des Illumina TruSight Cancer Panel): ALK, PHOX2B | Molecular Diagnostics / PCR |
| Hereditäres Ovarialkarzinom | Hereditäres Ovarialkarzinom | Molecular Diagnostics / PCR |
| Hereditäres Pankreaskarzinom | Hereditäres Pankreaskarzinom | Molecular Diagnostics / PCR |
| Hereditäres Pleuropulmonales | Hereditäres Pleuropulmonales | Molecular Diagnostics / PCR |
| Hereditäres Prostatakarzinom | Hereditäres Prostatakarzinom | Molecular Diagnostics / PCR |
| Hereditäres Schilddrüsenkarzinom, medullär (institutseigene Erweiterung des Illumina TruSight Cancer Panel): RET, ESR2 | Hereditäres Schilddrüsenkarzinom, medullär (institutseigene Erweiterung des Illumina TruSight Cancer Panel): RET, ESR2 | Molecular Diagnostics / PCR |
| Herzerkrankungen, gesamt | Herzerkrankungen, gesamt | Molecular Diagnostics / PCR |
| IRF6 | IRF6 | Molecular Diagnostics / PCR |
| IRF6, GJRHL3 (van der Woude- Syndrom) | IRF6, GJRHL3 (van der Woude- Syndrom) | Molecular Diagnostics / PCR |
| Konstitutionelles MMR-Defizienz- Syndrom (CMMRD) (institutseigene Erweiterung des Illumina TruSight Cancer Panel): MLH1, MSH2, MSH6, PMS2, EPCAM | Konstitutionelles MMR-Defizienz- Syndrom (CMMRD) (institutseigene Erweiterung des Illumina TruSight Cancer Panel): MLH1, MSH2, MSH6, PMS2, EPCAM | Molecular Diagnostics / PCR |
| LZTR1, NF2, SMARCB1 | LZTR1, NF2, SMARCB1 | Molecular Diagnostics / PCR |
| Li Fraumeni Syndrom | Li-Fraumeni-Syndrom | Molecular Diagnostics / PCR |
| MAPT, GRN (Hereditäre Frontotemporale Demenz) | MAPT, GRN (Hereditäre Frontotemporale Demenz) | Molecular Diagnostics / PCR |
| MECP2 (Rett-Syndrom) | MECP2 (Rett-Syndrom) | Molecular Diagnostics / PCR |
| MET | MET | Molecular Diagnostics / PCR |
| MLH1, MSH2 (HNPCC, CMMRD) | MLH1, MSH2 (HNPCC, CMMRD) | Molecular Diagnostics / PCR |
| MLH1, MSH2, MSH6, PMS2, EPCAM | MLH1, MSH2, MSH6, PMS2, EPCAM | Molecular Diagnostics / PCR |
| MSH6 (HNPCC, CMMRD) | MSH6 (HNPCC, CMMRD) | Molecular Diagnostics / PCR |
| Marfan-Syndrom (Illumina TruSight EBM Panel): FBN1, TGFBR1, TGFBR2 | Marfan-Syndrom (Illumina TruSight EBM Panel): FBN1, TGFBR1, TGFBR2 | Molecular Diagnostics / PCR |
| Mikrodeletions-/-duplikations- Syndrom-Screening, MR-X | Mikrodeletions-/-duplikations- Syndrom-Screening, MR-X | Molecular Diagnostics / PCR |
| Morbus Osler (institutseigene Erweiterung des Illumina TruSight Cancer Panel): ACVRL1, ENG, SMAD4 | Morbus Osler (institutseigene Erweiterung des Illumina TruSight Cancer Panel): ACVRL1, ENG, SMAD4 | Molecular Diagnostics / PCR |
| NF1 | NF1 | Molecular Diagnostics / PCR |
| NF1, SPRED1 | NF1, SPRED1 | Molecular Diagnostics / PCR |
| NF2 | NF2 | Molecular Diagnostics / PCR |
| NSD1, NFIX (Sotos-Syndrom) | NSD1, NFIX (Sotos-Syndrom) | Molecular Diagnostics / PCR |
| Neoplasie, Typ 2 (institutseigene Erweiterung des Illumina TruSight Cancer Panel): RET | Neoplasie, Typ 2 (institutseigene Erweiterung des Illumina TruSight Cancer Panel): RET | Molecular Diagnostics / PCR |
| Nierenzellkarzinom (institutseigene Erweiterung des Illumina TruSight Cancer Panel): FH | Nierenzellkarzinom (institutseigene Erweiterung des Illumina TruSight Cancer Panel): FH | Molecular Diagnostics / PCR |
| Nierenzellkarzinom-Syndrom, papilläres (institutseigene Erweiterung des Illumina TruSight Cancer Panel): MET | Nierenzellkarzinom-Syndrom, papilläres (institutseigene Erweiterung des Illumina TruSight Cancer Panel): MET | Molecular Diagnostics / PCR |
| PMS2 (HNPCC, CMMRD) | PMS2 (HNPCC, CMMRD) | Molecular Diagnostics / PCR |
| PTCH1 (Gorlin-Syndrom) | PTCH1 (Gorlin-Syndrom) | Molecular Diagnostics / PCR |
| PTEN, AKT1, PIK3CA, SEC23B | PTEN, AKT1, PIK3CA, SEC23B | Molecular Diagnostics / PCR |
| Paragangliom (institutseigene Erweiterung des Illumina TruSight Cancer Panel): MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL | Paragangliom (institutseigene Erweiterung des Illumina TruSight Cancer Panel): MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL | Molecular Diagnostics / PCR |
| Peutz-Jeghers Syndrom | Peutz-Jeghers-Syndrom | Molecular Diagnostics / PCR |
| Proteus-Syndrom (institutseigene Erweiterung des Illumina TruSight Cancer Panel): AKT1, PIK3CA, PTEN | Proteus-Syndrom (institutseigene Erweiterung des Illumina TruSight Cancer Panel): AKT1, PIK3CA, PTEN | Molecular Diagnostics / PCR |
| RHBDF2 | RHBDF2 | Molecular Diagnostics / PCR |
| Rett Syndrom | Rett-Syndrom: MECP2 | Molecular Diagnostics / PCR |
| Rhabdoid-Prädispositions-Syndrom | Rhabdoid-Prädispositions-Syndrom | Molecular Diagnostics / PCR |
| SDHA, SDHB, SDHC, SDHD, SDHAF1, SDHAF2 | SDHA, SDHB, SDHC, SDHD, SDHAF1, SDHAF2 | Molecular Diagnostics / PCR |
| SERPING1, F12 (Hereditäres Angioödem) | SERPING1, F12 (Hereditäres Angioödem) | Molecular Diagnostics / PCR |
| SHOX (Kleinwuchssyndrom) | SHOX (Kleinwuchssyndrom) | Molecular Diagnostics / PCR |
| SMARCB1 (Hereditäre Schwannomatose) | SMARCB1 (Hereditäre Schwannomatose) | Molecular Diagnostics / PCR |
| SMARCB1, SMARCA4 | SMARCB1, SMARCA4 | Molecular Diagnostics / PCR |
| SPRED1 (Hereditäre NF1) | SPRED1 (Hereditäre NF1) | Molecular Diagnostics / PCR |
| STK11 (Peutz-Jeghers-Syndrom, Carney-Komplex) | STK11 (Peutz-Jeghers-Syndrom, Carney-Komplex) | Molecular Diagnostics / PCR |
| STK11, PRKAR1A | STK11, PRKAR1A | Molecular Diagnostics / PCR |
| SUFU | SUFU | Molecular Diagnostics / PCR |
| Stromatumore (GIST) (institutseigene Erweiterung des Illumina TruSight Cancer Panel): KIT, PDGFRA, SDHA, SDHB, SDHC, SDHD | Stromatumore (GIST) (institutseigene Erweiterung des Illumina TruSight Cancer Panel): KIT, PDGFRA, SDHA, SDHB, SDHC, SDHD | Molecular Diagnostics / PCR |
| TBX1 (DiGeorge Syndrom) | TBX1 (DiGeorge Syndrom) | Molecular Diagnostics / PCR |
| TGFBR1, TGFBR2 (Marfan-Syndrom) | TGFBR1, TGFBR2 (Marfan-Syndrom) | Molecular Diagnostics / PCR |
| TP53 (Li-Fraumeni-Syndrom) | TP53 (Li-Fraumeni-Syndrom) | Molecular Diagnostics / PCR |
| TP53, CHEK2, POT1 | TP53, CHEK2, POT1 | Molecular Diagnostics / PCR |
| TSC1 (Tuberöse Sklerose Typ 1) | TSC1 (Tuberöse Sklerose Typ 1) | Molecular Diagnostics / PCR |
| TSC2 (Tuberöse Sklerose Typ 2) | TSC2 (Tuberöse Sklerose Typ 2) | Molecular Diagnostics / PCR |
| Thorakale Aortenerweiterung | Thorakale Aortenerweiterung | Molecular Diagnostics / PCR |
| Tumorsyndrom (institutseigene Erweiterung des Illumina TruSight Cancer Panel): CDH1, PTEN, STK11, TP53 | Tumorsyndrom (institutseigene Erweiterung des Illumina TruSight Cancer Panel): CDH1, PTEN, STK11, TP53 | Molecular Diagnostics / PCR |
| VHL | VHL | Molecular Diagnostics / PCR |
| VHL (Von-Hippel-Lindau-Syndrom) | VHL (Von-Hippel-Lindau-Syndrom) | Molecular Diagnostics / PCR |
| Van der Woude-Syndrom | Van der Woude-Syndrom | Molecular Diagnostics / PCR |
| WT1 | WT1 | Molecular Diagnostics / PCR |
| WT1 (Wilms-Tumor) | WT1 (Wilms-Tumor) | Molecular Diagnostics / PCR |
| XII (Hagemann-Faktor) F12, PLG, ANGPT1 | XII (Hagemann-Faktor) F12, PLG, ANGPT1 | Molecular Diagnostics / PCR |
| palmoplantaris) mit Ă–sophaguskarzinom (institutseigene Erweiterung des | palmoplantaris) mit Ă–sophaguskarzinom (institutseigene Erweiterung des | Molecular Diagnostics / PCR |
| (Illumina TruSight Cardio Panel): | (Illumina TruSight Cardio Panel): | Other |
| (institutseigene Erweiterung des | (institutseigene Erweiterung des | Other |
| 1/2 (institutseigene Erweiterung des Illumina TruSight Cancer Panel): | 1/2 (institutseigene Erweiterung des Illumina TruSight Cancer Panel): | Other |
| Dermatologische Erkrankungen, gesamt: ADAM10, APCDD1, CDH3, | Dermatologische Erkrankungen, gesamt: ADAM10, APCDD1, CDH3, | Other |
| Hereditäre Exostosis, multiple, | Hereditäre Exostosis, multiple, | Other |
| Hereditäre Leiomyomatose und | Hereditäre Leiomyomatose und | Other |
| Hereditäre Tylosis (Keratosis | Hereditäre Tylosis (Keratosis | Other |
| Hereditäres Phäochromozytom / | Hereditäres Phäochromozytom / | Other |
| Kontaminationsausschluss/ | Kontaminationsausschluss/ | Other |
| Typ1+2 (institutseigene Erweiterung des Illumina TruSight Cancer Panel): | Typ1+2 (institutseigene Erweiterung des Illumina TruSight Cancer Panel): | Other |
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