ScopeZentrum für Humangenetik Tübingen, med. rer. nat. Saskia Biskup, Fachärztin für Humangenetik
Official name: Zentrum für Humangenetik Tübingen, Dr. med. Dr. rer. nat. Saskia Biskup, Fachärztin für Humangenetik
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Details
Tübingen 72076 , Germany
Accreditation
Specialises in molecular and cytogenetic human genetics testing, offering chromosome analysis and DNA-based diagnostics including copy number variation detection from blood, tissue, and prenatal samples with sequencing and hybridization capture methods.
Accreditation Details
Accreditation Body
DAkkS
Number
D-ML-21320-01-01
Status
ActiveSince
14 November 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 (30)
| Standard Reference | Description | Category |
|---|---|---|
| Angeborener Chromosomensatz | angeborener Chromosomensatz | Biocompatibility (ISO 10993) |
| (HFE) | Hämochromatose (HFE) | Elemental Analysis |
| Chorea Huntington (HTT) | Chorea Huntington (HTT) | Elemental Analysis |
| Rhesus-Faktor | Rhesusfaktor | Hematology |
| (Imbalancen im Genom, Duplikationen, Deletionen) | (Imbalancen im Genom, Duplikationen, Deletionen) | Molecular Diagnostics / PCR |
| (PWS) | Prader-Willi-Syndrom (PWS) | Molecular Diagnostics / PCR |
| (PWS)WS/Angelman-Syndrom (AS) | (PWS)WS/Angelman-Syndrom (AS) | Molecular Diagnostics / PCR |
| (SMN1, SMN2) | (SMN1, SMN2) | Molecular Diagnostics / PCR |
| (Transkriptom-Sequenzierung) | (Transkriptom-Sequenzierung) | Molecular Diagnostics / PCR |
| (UBE3A) | (UBE3A) | Molecular Diagnostics / PCR |
| (Whole-Exome-Sequenzierung) | (Whole-Exome-Sequenzierung) | Molecular Diagnostics / PCR |
| 26, NR-21, NR-22, NR-27 | BAT-25, BAT-26, NR-21, NR-22, NR27 | Molecular Diagnostics / PCR |
| Augenerkrankungen | Augenerkrankungen | Molecular Diagnostics / PCR |
| CDKN2A, CDKN2B, EGFR, FGF3, FGF4, FGF19 | CDKN2A, CDKN2B, EGFR, FGF3, FGF4, FGF19 | Molecular Diagnostics / PCR |
| Chromosomenstörung | Chromosomenstörung | Molecular Diagnostics / PCR |
| Entwicklungsverzögerung | Entwicklungsverzögerung | Molecular Diagnostics / PCR |
| Mikrosatelliten-Instabilität | Mikrosatelliten-Instabilität | Molecular Diagnostics / PCR |
| Mikrosatellitenmarker: | Mikrosatellitenmarker: | Molecular Diagnostics / PCR |
| Punktmutation Cys282Tyr | Punktmutation Cys282Tyr | Molecular Diagnostics / PCR |
| RNA Fusions-Panel zur Identifikation | RNA Fusions-Panel zur Identifikation | Molecular Diagnostics / PCR |
| SMN1; Spinale Muskelatrophie | SMN1; Spinale Muskelatrophie | Molecular Diagnostics / PCR |
| SNRPN-Region 15q11-13 UPD15 | SNRPN-Region 15q11-13 UPD15 | Molecular Diagnostics / PCR |
| Somatisches Tumor-Panel | Somatisches Tumor-Panel | Molecular Diagnostics / PCR |
| Verlaufskontrolle | Verlaufskontrolle | Molecular Diagnostics / PCR |
| XYY, XXYY | XYY, XXYY | Molecular Diagnostics / PCR |
| assoziierten Gen-Fusionen und | assoziierten Gen-Fusionen und | Molecular Diagnostics / PCR |
| assoziierten Genen zur | assoziierten Genen zur | Molecular Diagnostics / PCR |
| ausgewählten intragenen | ausgewählten intragenen | Molecular Diagnostics / PCR |
| dominant und X-gekoppelt | dominant und x-gekoppelt: ARL3, BEST1, CA4, CACNA1F, CRX, FSCN2, GUCA1B, HK1, IMPDH1, KIF3B, KLHL7, NR2E3, NRL, OFD1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RDH12, RGR, RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR, SEMA4A, SNRNP200, SPP2, TOPORS | Molecular Diagnostics / PCR |
| strukturellen Varianten | strukturellen Varianten | Molecular Diagnostics / PCR |
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