ScopeUniversitätsklinikum Ulm Institut für Humangenetik
143 capabilities
Accredited since October 2025
Verified Oct 2026
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Details
Albert-Einstein-Allee 11
Ulm 89081 , Germany
Ulm 89081 , Germany
Accreditation
Active
DAkkS
D-ML-13294-03-01
www.uniklinik-ulm.de/humangenetik.html
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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 (143)
| Standard Reference | Description | Category |
|---|---|---|
| Cri-du-Chat-Syndrom | Cri-du-chat-Syndrom | Biocompatibility (ISO 10993) |
| (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 |
| (Gen: APC), TruSight Cancer®- | Adipositas (Gen: LEP, LEPR, MC4R, SIM1, KSR2, POMC, PCSK1, NTRK2, MRAP2, SH2B1), Ulmer Customer | Molecular Diagnostics / PCR |
| (Gen: DMPK) | (Gen: DMPK) | 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 |
| (HBOC): ID003 | Ovarialkarzinom (HBOC) | Molecular Diagnostics / PCR |
| (PHP), GNASXL (PHP), GRB10, H19 | (PHP), GNASXL (PHP), GRB10, H19 | Molecular Diagnostics / PCR |
| (PWS/AS) | (PWS/AS) | 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 |
| 22q11.21, 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 (Gene: APP, PSEN1, PSEN2, PRNP), TruSight One®-Illumina Panel | Alzheimer-Demenz mit Prion (Gene: APP, PSEN1, PSEN2, PRNP), TruSight One®-Illumina Panel | Molecular Diagnostics / PCR |
| Amyotrophe Lateralsklerose (Gen: C9ORF72) | Amyotrophe Lateralsklerose (Gen: C9ORF72) | Molecular Diagnostics / PCR |
| Angelman-Syndrom (Gene: SNRPN, UBE3A) | Angelman-Syndrom (Gene: SNRPN, UBE3A) | Molecular Diagnostics / PCR |
| Beckwith-Wiedemann- Syndrom/Exomphalos-Makroglossie- Gigantismus-Syndrom (EMG) | Beckwith-Wiedemann- Syndrom/Exomphalos-Makroglossie- Gigantismus-Syndrom (EMG) | Molecular Diagnostics / PCR |
| Blasenmole (familiär), Ulmer | Blasenmole (familiär), Ulmer | Molecular Diagnostics / PCR |
| Branchio-Okulo-Faziales Syndrom (BOF) (Gen: TFAP2A) | Branchio-Okulo-Faziales Syndrom (BOF) (Gen: TFAP2A) | Molecular Diagnostics / PCR |
| Börjeson-Forssman-Lehmann | Börjeson-Forssman-Lehmann | Molecular Diagnostics / PCR |
| CHEK2 | MLPA für TP53, CHEK2 | Molecular Diagnostics / PCR |
| Cancer®-Illumina Panel, TruSight | Cancer®-Illumina Panel, TruSight | Molecular Diagnostics / PCR |
| Chorea Huntington (Gen: HTT) | Chorea Huntington (Gen: HTT) | Molecular Diagnostics / PCR |
| Chorea Huntington Disease-Like 2 (Gen: JPH3) | Chorea Huntington Disease-Like 2 (Gen: JPH3) | Molecular Diagnostics / PCR |
| Chromosomenaberrationen | Chromosomenaberrationen | Molecular Diagnostics / PCR |
| Chromosomenaberrationen (Molekulare Karyotypisierung, Cytoscan/Oncoscan) | Chromosomenaberrationen (Molekulare Karyotypisierung, Cytoscan/Oncoscan) | 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 (FAP) (Gen: APC), TruSight Cancer®- Illumina Panel, TruSight® One- IlluminaPanel | Colorektale adenomatöse Polyposis (FAP) (Gen: APC), TruSight Cancer®- Illumina Panel, TruSight® One- IlluminaPanel | 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 (Gen: NLRP7) | Customer Designed Panel1 (Gen: NLRP7) | 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, TruSight Cancer®- Illumina Panel, TruSight One®- Illumina Panel | Designed Panel1, TruSight Cancer®- Illumina Panel, TruSight One®- Illumina Panel | Molecular Diagnostics / PCR |
| Designed Panel1, TruSight One®- Illumina Panel | Designed Panel1, TruSight One®- Illumina Panel | Molecular Diagnostics / PCR |
| DiGeorge-Syndrom | DiGeorge-Syndrom | Molecular Diagnostics / PCR |
| Dieker-Syndrom | Miller-Dieker-Syndrom | Molecular Diagnostics / PCR |
| Dihydropyrimidin-Dehydrogenase (DPD) (Gen: DPYD) | Dihydropyrimidin-Dehydrogenase (DPD) (Gen: DPYD) | Molecular Diagnostics / PCR |
| Fatale familiäre Insomnie(FFI) (Gen: PRNP) | Fatale familiäre Insomnie(FFI) (Gen: PRNP) | Molecular Diagnostics / PCR |
| Fragiles X Syndrom: FMR1 | Fragiles X-Syndrom: FMR1 | Molecular Diagnostics / PCR |
| Fragiles-X Syndrom (FXS), Fragiles-X | Fragiles-X Syndrom (FXS), Fragiles-X | Molecular Diagnostics / PCR |
| Frontotemporale Demenz (FTD) (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, TBK1,TUBA4A, UBQLN2, VAPB, VCP, VEGFA, VPS54), Ulmer Customer | Frontotemporale Demenz (FTD) (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, TBK1,TUBA4A, UBQLN2, VAPB, VCP, VEGFA, VPS54), Ulmer Customer | Molecular Diagnostics / PCR |
| Frontotemporale Demenz (Gen: C9ORF72) | Frontotemporale Demenz (Gen: C9ORF72) | Molecular Diagnostics / PCR |
| Gene: ACTA2, COL3A1, FBN1, | Gene: NDM, KPC, OXA-48, VIM, IMP, CTX-M, VanA, VanB | Molecular Diagnostics / PCR |
| Gerstman-Sträussler-Scheinker- Krankheit (GSD) (Gen: PRNP) | Gerstman-Sträussler-Scheinker- Krankheit (GSD) (Gen: PRNP) | Molecular Diagnostics / PCR |
| Illumina Panel, TruSight | TruRisk®-Illumina Panel, TruSight | Molecular Diagnostics / PCR |
| Illumina Panel, TruSight Cancer®- Illumina Panel, TruSight One®- Illumina Panel | Illumina Panel, TruSight Cancer®- Illumina Panel, TruSight One®- Illumina Panel | Molecular Diagnostics / PCR |
| Juveniles Polyposis-Syndrom | Juveniles Polyposis-Syndrom | Molecular Diagnostics / PCR |
| Kagami-Ogata Syndrom | Kagami-Ogata-Syndrom | Molecular Diagnostics / PCR |
| Keratitis-Ichthyosis- Taubheitssyndrom (KID) (Gen: GJB2) | Keratitis-Ichthyosis- Taubheitssyndrom (KID) (Gen: GJB2) | Molecular Diagnostics / PCR |
| Li-Fraumeni-Syndrom/Li-Fraumeni- like (Gen: TP53, CHEK2) | Li-Fraumeni-Syndrom/Li-Fraumeni- like (Gen: TP53, CHEK2) | Molecular Diagnostics / PCR |
| Lynch-Syndrom (HNPCC) (Gene: EPCAM, MLH1, MSH2, MSH6, PMS2), TruRisk Panel, TruSight Cancer Panel, TruSight One | Lynch-Syndrom (HNPCC) (Gene: EPCAM, MLH1, MSH2, MSH6, PMS2), TruRisk Panel, TruSight Cancer Panel, TruSight One | Molecular Diagnostics / PCR |
| MAP (MUTYH assoziierte Polyposis) (Gen: MUTYH), TruRisk®-Illumina | MAP (MUTYH assoziierte Polyposis) (Gen: MUTYH), TruRisk®-Illumina | 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, MSH2, MSH6, PMS2 | MLPA für EPCAM, MLH1, MSH2, MSH6, PMS2 | Molecular Diagnostics / PCR |
| MLPA für GNAS, GNASXL, GRB10, H19, KCNQ10T1, MEST, MEG3, NESPAS, NESP55, PEG3, PLAGL1, SNRPN | MLPA für GNAS, GNASXL, GRB10, H19, KCNQ10T1, MEST, MEG3, NESPAS, NESP55, PEG3, PLAGL1, SNRPN | 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 LZTR1, SMARCB1, NF2 | MLPA für LZTR1, SMARCB1, NF2 | 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 |
| Magenis-Syndrom | Smith-Magenis-Syndrom | Molecular Diagnostics / PCR |
| Magenkarzinom, diffuses (Gen: CDH1), TruRisk®-Illumina Panel, TruSight Cancer®-Illumina Panel, TruSight One®-Illumina Panel | Magenkarzinom, diffuses (Gen: CDH1), TruRisk®-Illumina Panel, TruSight Cancer®-Illumina Panel, TruSight One®-Illumina Panel | Molecular Diagnostics / PCR |
| Medulläres Schilddrüsenkarzinom (Gen: RET) | Medulläres Schilddrüsenkarzinom (Gen: RET) | Molecular Diagnostics / PCR |
| Mikrodeletionssyndrom | Mikrodeletionssyndrom | Molecular Diagnostics / PCR |
| Mikrodeletionssyndrom 22q11 | Mikrodeletionssyndrom 22q11 | Molecular Diagnostics / PCR |
| Multiple Endokrine Neoplasie | Multiple Endokrine Neoplasie | Molecular Diagnostics / PCR |
| Myotone Dystrophie Typ I | Myotone Dystrophie Typ I | Molecular Diagnostics / PCR |
| Myotone Dystrophie Typ II (Gen: CNBP [ZNF9]) | Myotone Dystrophie Typ II (Gen: CNBP [ZNF9]) | Molecular Diagnostics / PCR |
| Neurofibromatose Typ 1 (Morbus Recklinghausen) (Gen: NF1), TruSight One®-Illumina Panel, TruSight Cancer®-Illumina | Neurofibromatose Typ 1 (Morbus Recklinghausen) (Gen: NF1), TruSight One®-Illumina Panel, TruSight Cancer®-Illumina | Molecular Diagnostics / PCR |
| Neurofibromatose Typ 2 (Schwannomatose) (Gene: NF2; LZTR1, SMARCB1), TruSight One®- Illumina Panel, TruSight Cancer®- Illumina | Neurofibromatose Typ 2 (Schwannomatose) (Gene: NF2; LZTR1, SMARCB1), TruSight One®- Illumina Panel, TruSight Cancer®- Illumina | Molecular Diagnostics / PCR |
| Nicolaides-Baraitser Syndrom (Gen: SMARCA2), Ulmer Customer | Nicolaides-Baraitser Syndrom (Gen: SMARCA2), Ulmer Customer | Molecular Diagnostics / PCR |
| One®-Illumina Panel | One®-Illumina Panel | Molecular Diagnostics / PCR |
| Ovarialkarzinom, kleinzelliges, vom | Ovarialkarzinom, kleinzelliges, vom | Molecular Diagnostics / PCR |
| Panel | Panel | Molecular Diagnostics / PCR |
| Panel, TruSight Cancer®-Illumina | Panel, TruSight Cancer®-Illumina | Molecular Diagnostics / PCR |
| Panel, TruSight One®-Illumina Panel | Panel, TruSight One®-Illumina Panel | Molecular Diagnostics / PCR |
| Panel1,TruSight One®-Illumina Panel | Panel1,TruSight One®-Illumina Panel | Molecular Diagnostics / PCR |
| Pendred Syndrom (PDS) (Gen: SLC26A4) | Pendred Syndrom (PDS) (Gen: SLC26A4) | Molecular Diagnostics / PCR |
| Perlman-Syndrom (Gen: DIS3L2) | Perlman-Syndrom (Gen: DIS3L2) | Molecular Diagnostics / PCR |
| Peutz-Jeghers-Syndrom (PJS) (Gen: STK11), TruSight Cancer®-Illumina | Peutz-Jeghers-Syndrom (PJS) (Gen: STK11), TruSight Cancer®-Illumina | Molecular Diagnostics / PCR |
| Phelan-McDermid Syndrom (Gen: SHANK3), TruSight One®-Illumina | Phelan-McDermid Syndrom (Gen: SHANK3), TruSight One®-Illumina | Molecular Diagnostics / PCR |
| Polymerase Proofreading- assoziierte Polyposis (Gene: POLD1, POLE) | Polymerase Proofreading- assoziierte Polyposis (Gene: POLD1, POLE) | Molecular Diagnostics / PCR |
| Prader-Willi-Syndrom (Gen: MLPA für SNRPN | Prader-Willi-Syndrom (Gen: SNRPN) | 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 (Gen: SMARCB1), Ulmer Customer | Rhabdoid-Prädispositions-Syndrom (Gen: SMARCB1), Ulmer Customer | Molecular Diagnostics / PCR |
| Rubinstein-Taybi-Syndrom (CREBBP, EP300), Ulmer Customer Designed | Rubinstein-Taybi-Syndrom (CREBBP, EP300), Ulmer Customer Designed | Molecular Diagnostics / PCR |
| Schwannomatose Typ 1/2 (SWNTS1/2) (Gene: LZTR1, SMARCB1, NF2), Ulmer Customer | Schwannomatose Typ 1/2 (SWNTS1/2) (Gene: LZTR1, SMARCB1, NF2), Ulmer Customer | Molecular Diagnostics / PCR |
| Schwerhörigkeit DFNB1 (Gene: GJB2, GJB6) | Schwerhörigkeit DFNB1 (Gene: GJB2, GJB6) | Molecular Diagnostics / PCR |
| Silver-Russell Syndrom | Silver-Russell-Syndrom | Molecular Diagnostics / PCR |
| Simpson-Golabi-Behmel-Syndrom (Gen: GPC3) | Simpson-Golabi-Behmel-Syndrom (Gen: GPC3) | Molecular Diagnostics / PCR |
| Spinale Muskelatrophie | Spinale Muskelatrophie | Molecular Diagnostics / PCR |
| Spinobulbäre Muskelatrophie (Typ Kennedy) (Gen: AR) | Spinobulbäre Muskelatrophie (Typ Kennedy) (Gen: AR) | Molecular Diagnostics / PCR |
| Spinocerebelläre Ataxie (Gene: ATXN1, ATXN2, ATXN3, CACNA1A,ATXN7, ATXN8, PPP2R2B, PRKCG, TBP) | Spinocerebelläre Ataxie (Gene: ATXN1, ATXN2, ATXN3, CACNA1A,ATXN7, ATXN8, PPP2R2B, PRKCG, TBP) | Molecular Diagnostics / PCR |
| Störungen (MLID) beinhaltet GNAS | Störungen (MLID) beinhaltet GNAS | Molecular Diagnostics / PCR |
| Syndrom (BFLS) (Gen: PHF6) | Syndrom (BFLS) (Gen: PHF6) | Molecular Diagnostics / PCR |
| Temple Syndrom (UPD14)mat | Temple Syndrom (UPD14)mat | Molecular Diagnostics / PCR |
| TruSight Cancer®-Illumina Panel, TruSight One®-Illumina Panel | TruSight Cancer®-Illumina Panel, TruSight One®-Illumina Panel | 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 |
| Weaver Syndrom (Gen: | Weaver-Syndrom (Gen: EZH2) | Molecular Diagnostics / PCR |
| Whole Exome | Whole Exome: SNV, CNV | Molecular Diagnostics / PCR |
| Williams Beuren Syndrom, | Williams-Beuren-Syndrom | 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 |
| angeborene und erworbene | angeborene und erworbene | Molecular Diagnostics / PCR |
| angeborener oder erworbener | angeborener oder erworbener | Molecular Diagnostics / PCR |
| assoz. Ovarialinsuffizienz (FXPOI) und Fragiles-X-Tremor-Ataxie- Syndrom (FXTAS) (Gen: FMR1) | assoz. Ovarialinsuffizienz (FXPOI) und Fragiles-X-Tremor-Ataxie- Syndrom (FXTAS) (Gen: FMR1) | Molecular Diagnostics / PCR |
| gezielter Nachweis | gezielter Nachweis | Molecular Diagnostics / PCR |
| hyperkalzämischen Typ (SCOOHT) (Gen: SMARCA4), TruSight One®- Illumina Panel, TruSight Cancer®- Illumina, Ulmer Customer Designed | hyperkalzämischen Typ (SCOOHT) (Gen: SMARCA4), TruSight One®- Illumina Panel, TruSight Cancer®- Illumina, Ulmer Customer Designed | Molecular Diagnostics / PCR |
| numerischer und struktureller | numerischer und struktureller | Molecular Diagnostics / PCR |
| ungezielter Nachweis | ungezielter Nachweis | Molecular Diagnostics / PCR |
| Amyotrophe Lateralsklerose (Gene: ALS2, ANG, ARHGEF28, ATXN2, BSCL2, C9orf72, CCNF, CHCHD10, | Amyotrophe Lateralsklerose (Gene: ALS2, ANG, ARHGEF28, ATXN2, BSCL2, C9orf72, CCNF, CHCHD10, | Other |
| Designed Panel1. Fragment-PCR und Southernblot (Gen: (C9orf72) MLPA für MAPT und GRN | Designed Panel1. Fragment-PCR und Southernblot (Gen: (C9orf72) MLPA für MAPT und GRN | Other |
| Hereditäres Brust- und | Hereditäres Brust- und | Other |
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