ScopeUniversitätsklinikum Ulm Institut für Humangenetik
158 capabilities
Accredited since October 2025
Verified Apr 2026
One of 3,039 in Germany
Details
Albert-Einstein-Allee 11
Ulm 89081 , Germany
Ulm 89081 , Germany
Accreditation
Active
DAkkS
D-ML-13294-03-01
Specialises in human genetics testing covering molecular human genetics and cytogenetics, with accreditation permitting application of standardised procedures with protocol variations and development of new procedures.
Accreditation Details
Accreditation Body
DAkkS
Number
D-ML-13294-03-01
Status
ActiveSince
06 October 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 (158)
| Standard Reference | Description | Category |
|---|---|---|
| Cri-du-Chat-Syndrom | Cri-du-chat-Syndrom | Biocompatibility (ISO 10993) |
| % (Hz) 0 | ± 1 | % (Hz) 0 | ± 1 | Electrical |
| Di George Syndrom | DiGeorge-Syndrom: Region: | Elemental Analysis |
| Silver-Russell Syndrom | Silver-Russell-Syndrom: | Elemental Analysis |
| Williams-Beuren Syndrom | Williams-Beuren-Syndrom: | Elemental Analysis |
| Gastroenteritis Panel: | Gastroenteritis Panel: | Food Safety Testing |
| (BOF) (Gen: TFAP2A) | (BOF) (Gen: TFAP2A) | Molecular Diagnostics / PCR |
| (BWS/SRS), KCNQ1OT1 (BWS/SRS), MEG3 (KOS/TS), NESPAS, NESP55, PEG3, PLAGL1 (TNDM), SNRPN | (BWS/SRS), KCNQ1OT1 (BWS/SRS), MEG3 (KOS/TS), NESPAS, NESP55, PEG3, PLAGL1 (TNDM), SNRPN | Molecular Diagnostics / PCR |
| (DPD) (Gen: DPYD) | (DPD) (Gen: DPYD) | Molecular Diagnostics / PCR |
| (FXTAS) | Ataxie-Syndrom (FXTAS): FMR1 | Molecular Diagnostics / PCR |
| (Gen: APC), TruSight Cancer®- | Adipositas (Gen: LEP, LEPR, MC4R, SIM1, KSR2, POMC, PCSK1, NTRK2, MRAP2, SH2B1), Ulmer Customer | Molecular Diagnostics / PCR |
| (Gene: ALS2, ANG, ARHGEF28, ATXN2, BSCL2, C9orf72, CCNF, CHCHD10, CHMP2B, DCTN1, ERBB4, FIG4, FUS, GBE1, GLE1, GRN, HNRNPA1, HNRNPA2B1, HSPB1, HSPB8, MAPT, MATR3, MME, NEFH, NEK1, OPTN, PFN1, PRPH, SETX, SIGMAR1, SOD1, SPG11, SPG20, SQSTM1, TAF15, TARDBP, | (Gene: APP, PSEN1, PSEN2, PRNP), TruSight One®-Illumina Panel | Molecular Diagnostics / PCR |
| (Molekulare Karyotypisierung, Cytoscan/Oncoscan) | (Molekulare Karyotypisierung, Cytoscan/Oncoscan) | Molecular Diagnostics / PCR |
| (PHP), GNASXL (PHP), GRB10, H19 | (PHP), GNASXL (PHP), GRB10, H19 | Molecular Diagnostics / PCR |
| (PWS/AS) | (PWS/AS) | Molecular Diagnostics / PCR |
| (Typ Kennedy) | (Typ Kennedy) | Molecular Diagnostics / PCR |
| (sub)mikroskopisch kleiner | (sub)mikroskopisch kleiner | Molecular Diagnostics / PCR |
| 11p15 MLPA | 11p15 MLPA | Molecular Diagnostics / PCR |
| 11p15, UPD(7)mat MLPA | 11p15, UPD(7)mat MLPA | Molecular Diagnostics / PCR |
| 16p13.3 MLPA | 16p13.3 MLPA | Molecular Diagnostics / PCR |
| 17p11.2 MLPA | 17p11.2 MLPA | Molecular Diagnostics / PCR |
| 17p13.3 MLPA | 17p13.3 MLPA | Molecular Diagnostics / PCR |
| 21q22.3, 21q22.13, Xq26.2, q26.3, Xq27.1-q27.2, Yp11.31 | 21q22.3, 21q22.13, Xq26.2, q26.3, Xq27.1-q27.2, Yp11.31 | Molecular Diagnostics / PCR |
| 22q11 MLPA | 22q11 MLPA | Molecular Diagnostics / PCR |
| 22q11.2-Mikrodeletionssyndrom | 22q11.2-Mikrodeletionssyndrom | Molecular Diagnostics / PCR |
| 22q11.21, 10p13-p14 MLPA | 22q11.21, 10p13-p14 MLPA | Molecular Diagnostics / PCR |
| 22q13.3 MLPA | 22q13.3 MLPA | Molecular Diagnostics / PCR |
| 4p16.3 MLPA | 4p16.3 MLPA | Molecular Diagnostics / PCR |
| 5p15 MLPA | 5p15 MLPA | Molecular Diagnostics / PCR |
| 7q11.23 MLPA | 7q11.23 MLPA | Molecular Diagnostics / PCR |
| Alzheimer-Demenz mit Prion | Alzheimer-Demenz mit Prion | Molecular Diagnostics / PCR |
| Angelman Syndrom | Deletion; Angelman-Syndrom | Molecular Diagnostics / PCR |
| Atrophie | Spinobulbäre Muskelatrophie | Molecular Diagnostics / PCR |
| Blasenmole (familiär), Ulmer | Blasenmole (familiär), Ulmer | Molecular Diagnostics / PCR |
| Branchio-Okulo-Faziales Syndrom | Branchio-okulo-faziales Syndrom | Molecular Diagnostics / PCR |
| Börjeson-Forssman-Lehmann | Börjeson-Forssman-Lehmann | Molecular Diagnostics / PCR |
| Cancer®-Illumina Panel, TruSight | Cancer®-Illumina Panel, TruSight | Molecular Diagnostics / PCR |
| Chorea Huntington | HD; Chorea Huntington | Molecular Diagnostics / PCR |
| Chorea Huntington Disease-Like | Chorea Huntington Disease-Like | Molecular Diagnostics / PCR |
| Chromosomenaberrationen | Chromosomenaberrationen | Molecular Diagnostics / PCR |
| Chromosomenstörungen | Chromosomenstörungen | Molecular Diagnostics / PCR |
| Coffin-Siris Syndrom (Gene: ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1, PHF6 und SOX11), Ulmer | Coffin-Siris Syndrom (Gene: ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1, PHF6 und SOX11), Ulmer | Molecular Diagnostics / PCR |
| Colorektale adenomatöse Polyposis | Colorektale adenomatöse Polyposis | Molecular Diagnostics / PCR |
| Cowden-Syndrom (Gen: PTEN) | Cowden-Syndrom (Gen: PTEN) | Molecular Diagnostics / PCR |
| Creutzfeldt-Jakob-Krankheit (CJD), (Gen: PRNP) | Creutzfeldt-Jakob-Krankheit (CJD), (Gen: PRNP) | Molecular Diagnostics / PCR |
| Customer Designed Panel1 | Customer Designed Panel1 | Molecular Diagnostics / PCR |
| Customer Designed Panel1, TruSight One®-Illumina Panel | Ulmer Customer Designed Panel1, TruSight One®-Illumina Panel | Molecular Diagnostics / PCR |
| Designed Panel1, TruSight | Designed Panel1, TruSight | Molecular Diagnostics / PCR |
| Designed Panel1. Fragment-PCR | Designed Panel1. Fragment-PCR | Molecular Diagnostics / PCR |
| Dieker-Syndrom | Miller-Dieker-Syndrom | Molecular Diagnostics / PCR |
| Dihydro-Pyrimidin-Dehydrogenase- | Dihydropyrimidin-Dehydrogenase | Molecular Diagnostics / PCR |
| Fragiles X Syndrom: FMR1 | Fragiles X-Syndrom: FMR1 | Molecular Diagnostics / PCR |
| Frontotemporale Demenz | Frontotemporale Demenz | Molecular Diagnostics / PCR |
| Frontotemporale Demenz (FTD) | Frontotemporale Demenz (FTD): | Molecular Diagnostics / PCR |
| Gene | homogene | Molecular Diagnostics / PCR |
| Gigantismus-Syndrom (EMG) | Gigantismus-Syndrom (EMG) | Molecular Diagnostics / PCR |
| Glykogenspeicherkrankheit (GSD): | Glykogenspeicherkrankheit (GSD): | Molecular Diagnostics / PCR |
| Hereditäres Brust- und | Hereditäres Brust- und | Molecular Diagnostics / PCR |
| Illumina Panel | Illumina Panel | Molecular Diagnostics / PCR |
| Illumina Panel, TruSight | TruRisk®-Illumina Panel, TruSight | Molecular Diagnostics / PCR |
| Illumina, Ulmer Customer | Illumina, Ulmer Customer | Molecular Diagnostics / PCR |
| Juveniles Polyposis-Syndrom | Juveniles Polyposis-Syndrom | Molecular Diagnostics / PCR |
| Kagami-Ogata Syndrom | Kagami-Ogata-Syndrom | Molecular Diagnostics / PCR |
| Lynch-Syndrom (HNPCC) | Lynch-Syndrom (HNPCC): ID002 | Molecular Diagnostics / PCR |
| MEN2 (Gen: RET), TruSight | MEN2 (Gen: RET), TruSight | Molecular Diagnostics / PCR |
| MLPA für BDNF (mit PAX6, SOX2, WT1) | MLPA für BDNF (mit PAX6, SOX2, WT1) | Molecular Diagnostics / PCR |
| MLPA für BFLS | MLPA für BFLS | Molecular Diagnostics / PCR |
| MLPA für EPCAM, MLH1, MSH6, PMS2 | MLPA für EPCAM, MLH1, MSH6, PMS2 | Molecular Diagnostics / PCR |
| MLPA für Gen: APC | MLPA für Gen: APC | Molecular Diagnostics / PCR |
| MLPA für Gene: ARID1A, ARID1B, PHF6 | MLPA für Gene: BRCA1, BRCA2, CHEK2, PALB2 | Molecular Diagnostics / PCR |
| MLPA für LEP, LEPR, MC4R, POMC, SIM1, SH2B1, SEZ6L2 | MLPA für LEP, LEPR, MC4R, POMC, SIM1, SH2B1, SEZ6L2 | Molecular Diagnostics / PCR |
| MLPA für MUTYH | MLPA für MUTYH | Molecular Diagnostics / PCR |
| MLPA für NF1 | MLPA für NF1 | Molecular Diagnostics / PCR |
| MLPA für NF2, LZTR1, SMARCB1 | MLPA für NF2, LZTR1, SMARCB1 | Molecular Diagnostics / PCR |
| MLPA für RET | MLPA für RET | Molecular Diagnostics / PCR |
| MLPA für RETT | MLPA für RETT | Molecular Diagnostics / PCR |
| MLPA für SLC26A4 | MLPA für SLC26A4 | Molecular Diagnostics / PCR |
| MLPA für SMARCB1 | MLPA für SMARCB1 | Molecular Diagnostics / PCR |
| MLPA für SNRPN | MLPA für SNRPN | Molecular Diagnostics / PCR |
| MLPA für STK11 | MLPA für STK11 | Molecular Diagnostics / PCR |
| MLPA für TP53, CHEK2 | MLPA für TP53, CHEK2 | Molecular Diagnostics / PCR |
| Magen-Karzinom, diffuses: CDH1 | Magen-Karzinom, diffuses: CDH1 | Molecular Diagnostics / PCR |
| Magenis-Syndrom | Smith-Magenis-Syndrom | Molecular Diagnostics / PCR |
| Medulläres Schilddrüsenkarzinom | Medulläres Schilddrüsenkarzinom | Molecular Diagnostics / PCR |
| Multiple Endokrine Neoplasie | Multiple Endokrine Neoplasie | Molecular Diagnostics / PCR |
| Myotone Dystrophie Typ | Myotone Dystrophie Typ | Molecular Diagnostics / PCR |
| NESPAS, NESP55, PEG3, SNRPN | NESPAS, NESP55, PEG3, SNRPN | Molecular Diagnostics / PCR |
| Neurofibromatose Typ 1 | Neurofibromatose Typ 1 | Molecular Diagnostics / PCR |
| Neurofibromatose Typ 2 | Neurofibromatose Typ 2 | Molecular Diagnostics / PCR |
| Nicolaides-Baraitser Syndrom | Nicolaides-Baraitser-Syndrom | Molecular Diagnostics / PCR |
| Ovarialkarzinom (HBOC) | Ovarialkarzinom (HBOC) | Molecular Diagnostics / PCR |
| Panel, TruSight Cancer®-Illumina | Panel, TruSight Cancer®-Illumina | Molecular Diagnostics / PCR |
| Panel, TruSight One®-Illumina | Panel, TruSight One®-Illumina | Molecular Diagnostics / PCR |
| Panel1,TruSight One®-Illumina | Panel1,TruSight One®-Illumina | Molecular Diagnostics / PCR |
| Pendred Syndrom (PDS) | Pendred Syndrom (PDS) | Molecular Diagnostics / PCR |
| Perlman-Syndrom | Perlman-Syndrom | Molecular Diagnostics / PCR |
| Peutz-Jeghers Syndrom | STK11; V. a. Peutz-Jeghers-Syndrom | Molecular Diagnostics / PCR |
| Phelan-McDermid Syndrom | Phelan-McDermid-Syndrom: | Molecular Diagnostics / PCR |
| Prionkrankheit (Gen: PRNP) | Prionkrankheit (Gen: PRNP) | Molecular Diagnostics / PCR |
| QF-PCR | QF-PCR | Molecular Diagnostics / PCR |
| Rett-Syndrom (Gen: MECP2) | Rett-Syndrom (Gen: MECP2) | Molecular Diagnostics / PCR |
| Rhabdoid-Prädispositions-Syndrom | Rhabdoid-Prädispositions-Syndrom | Molecular Diagnostics / PCR |
| Rubinstein-Taybi Syndrom | Rubinstein-Taybi-Syndrom: | Molecular Diagnostics / PCR |
| SMN1; Spinale Muskelatrophie | SMN1; Spinale Muskelatrophie | Molecular Diagnostics / PCR |
| Schwannomatose Typ 1/2 | Schwannomatose Typ 1/2 | Molecular Diagnostics / PCR |
| Schwerhörigkeit DFNB1 | Schwerhörigkeit DFNB1 | Molecular Diagnostics / PCR |
| Simpson-Golabi-Behmel Syndrom | Simpson-Golabi-Behmel-Syndrom | Molecular Diagnostics / PCR |
| Spinocerebelläre Ataxie | Spinocerebelläre Ataxie | Molecular Diagnostics / PCR |
| Störungen (MLID) beinhaltet GNAS | Störungen (MLID) beinhaltet GNAS | Molecular Diagnostics / PCR |
| Syndrom (BFLS) | Syndrom (BFLS): PHF6 | Molecular Diagnostics / PCR |
| Taubheitssyndrom (KID) (Gen: GJB2) | Taubheitssyndrom (KID) (Gen: GJB2) | Molecular Diagnostics / PCR |
| Temple Syndrom (UPD14)mat | Temple Syndrom (UPD14)mat | Molecular Diagnostics / PCR |
| TruSight Cancer Panel, TruSight | TruSight Cancer Panel, TruSight | Molecular Diagnostics / PCR |
| TruSight Cancer®-Illumina | TruSight Cancer®-Illumina | Molecular Diagnostics / PCR |
| TruSight One®-Illumina | TruSight One®-Illumina | Molecular Diagnostics / PCR |
| Turner Syndrom | Turner Syndrom | Molecular Diagnostics / PCR |
| UPD(14) mat-Syndrom | UPD(14) mat-Syndrom | Molecular Diagnostics / PCR |
| UPD(14)pat MLPA | UPD(14)pat MLPA | Molecular Diagnostics / PCR |
| UPD(7) MLPA | UPD(7) MLPA | Molecular Diagnostics / PCR |
| UPD(7) mat | UPD(7) mat | Molecular Diagnostics / PCR |
| Ulmer Customer Designed | Ulmer Customer Designed | Molecular Diagnostics / PCR |
| Whole Exome | Whole Exome: SNV, CNV | Molecular Diagnostics / PCR |
| Wolf-Hirschhorn-Syndrom | Wolf-Hirschhorn-Syndrom | Molecular Diagnostics / PCR |
| Xp22.33/Yp11.32 MLPA | Xp22.33/Yp11.32 MLPA | Molecular Diagnostics / PCR |
| Xq26 MLPA | Xq26 MLPA | Molecular Diagnostics / PCR |
| YY (PYY), Humanes Glukagon-like | YY (PYY), Humanes Glukagon-like | Molecular Diagnostics / PCR |
| angeborene und erworbene | angeborene und erworbene | Molecular Diagnostics / PCR |
| angeborener oder erworbener | angeborener oder erworbener | Molecular Diagnostics / PCR |
| assoz. Ovarialinsuffizienz (FXPOI) | assoz. Ovarialinsuffizienz (FXPOI) | Molecular Diagnostics / PCR |
| gezielter Nachweis | gezielter Nachweis | Molecular Diagnostics / PCR |
| hyperkalzämischen Typ | hyperkalzämischen Typ | Molecular Diagnostics / PCR |
| numerischer und struktureller | numerischer und struktureller | Molecular Diagnostics / PCR |
| ungezielter Nachweis | ungezielter Nachweis | Molecular Diagnostics / PCR |
| (ABCA4, ADAM9, CFAP418, CDHR1, CERKL, CNGB3, CRX, EYS, FSCN2, GUCY2D, KCNV2, PDE6C, POC1B, PROM1, RAB28, RPE65, RPGRIP1, TULP1, DRAM2, SEMA4A, PCARE, GUCA1A, RIMS1, TTLL5, TLCD3B, PITPNM3, UNC119, RAX2, RPGR, CACNA1F, COG6, OPN1LW ); SNV, CNV | CHMP2B, DCTN1, ERBB4, FIG4, GBE1, GLE1, GRN, HNRNPA1, HNRNPA2B1, HSPB1, HSPB8, MAPT, MATR3, MME, NEFH, NEK1, OPTN, PFN1, PRPH, SETX, SIGMAR1, SOD1, SPG11, SPG20, SQSTM1, TAF15, TARDBP, TBK1,TUBA4A, UBQLN2, VAPB, VCP, VEGFA, VPS54) | Other |
| (FAP) | (FAP) | Other |
| (SWNTS1/2) (Gene: LZTR1, | (SWNTS1/2) (Gene: LZTR1, | Other |
| (Schwannomatose) (Gene: | (Schwannomatose) (Gene: | Other |
| Amyotrophe Lateralsklerose (Gene: | Amyotrophe Lateralsklerose (Gene: | Other |
| C9ORF72) | C9ORF72) | Other |
| CACNA1A,ATXN7, ATXN8, PRKCG, TBP) | CACNA1A,ATXN7, ATXN8, PRKCG, TBP) | Other |
| CDH1), TruRisk®-Illumina | CDH1), TruRisk®-Illumina | Other |
| EP300), Ulmer Customer | EP300), Ulmer Customer | Other |
| Ehlers-Danlos-Syndrom (Illumina | Ehlers-Danlos-Syndrom (Illumina | Other |
| Fatale familiäre Insomnie(FFI) (Gen: | Fatale familiäre Insomnie(FFI) (Gen: | Other |
| LZTR1, SMARCB1), TruSight | LZTR1, SMARCB1), TruSight | Other |
| MAP (MUTYH assoziierte | MAP (MUTYH assoziierte | Other |
| MLID (multilocus imprinting | MLID (multilocus imprinting | Other |
| POLE) | POLE) | Other |
| PRNP) | PRNP) | Other |
| Prader-Willi-Syndrom (Gen: | Prader-Willi-Syndrom (Gen: | Other |
| Recklinghausen) (Gen: NF1), | Recklinghausen) (Gen: NF1), | Other |
| SHANK3), TruSight One®-Illumina | SHANK3), TruSight One®-Illumina | Other |
| SMARCA2), Ulmer Customer | SMARCA2), Ulmer Customer | Other |
| SMARCB1, NF2), Ulmer | SMARCB1, NF2), Ulmer | Other |
| STK11), TruSight Cancer®-Illumina | STK11), TruSight Cancer®-Illumina | Other |
| TBK1,TUBA4A, UBQLN2, VAPB, VEGFA, VPS54), Ulmer Customer | TBK1,TUBA4A, UBQLN2, VAPB, VEGFA, VPS54), Ulmer Customer | Other |
| Weaver Syndrom (Gen: | Weaver Syndrom (Gen: | Other |
| assoziierte Polyposis (Gene: | assoziierte Polyposis (Gene: | Other |