ScopeUniversitätsklinikum Aachen AöR (Uniklinik RWTH Aachen) Institut für Humangenetik und Genommedizin
10 capabilities
Accredited since August 2024
Verified May 2026
One of 3,188 in Germany
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Details
Pauwelsstraße 30
Aachen 52074 , Germany
Aachen 52074 , Germany
Accreditation
Active
DAkkS
D-ML-13154-02-00
Performs molecular genetic testing using amplification-based techniques including PCR and MLPA to diagnose hereditary conditions such as Beckwith-Wiedemann syndrome, spinal muscular atrophy, and fragile X syndrome, accepting blood, tissue, and DNA samples.
Accreditation Details
Accreditation Body
DAkkS
Number
D-ML-13154-02-00
Status
ActiveSince
30 August 2024
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 (10)
| Standard Reference | Description | Category |
|---|---|---|
| (CMT): | Cardiolipin (CMT) | Immunology / Serology |
| (Long Read): SNV, CNV, Repeats | (Long Read): SNV, CNV, Repeats | Molecular Diagnostics / PCR |
| (Short Read): SNV, CNV, Repeats | (Short Read): SNV, CNV, Repeats | Molecular Diagnostics / PCR |
| Charcot-Marie-Tooth-Erkrankung | Charcot-Marie-Tooth-Erkrankung | Molecular Diagnostics / PCR |
| FMR1-Gen (fraX, POF, FXTAS) | FMR1-Gen (fraX, POF, FXTAS) | Molecular Diagnostics / PCR |
| GARS1, GDAP1, GJB1, HSPB1, IGHMBP2, LITAF, LMNA, MFN2, MME, MPZ, MTMR2, NEFL, PMP22, PRX, RAB7A, SH3TC2, TRPV4 | GARS1, GDAP1, GJB1, HSPB1, IGHMBP2, LITAF, LMNA, MFN2, MME, MPZ, MTMR2, NEFL, PMP22, PRX, RAB7A, SH3TC2, TRPV4 | Molecular Diagnostics / PCR |
| SMN1 (SMA) | SMN1 (SMA) | Molecular Diagnostics / PCR |
| Whole Exome | Whole Exome: SNV, CNV | Molecular Diagnostics / PCR |
| Whole Genome | Whole Genome | Molecular Diagnostics / PCR |
| Syndrom/Silver-Russell-Syndrom) | Syndrom/Silver-Russell-Syndrom) | Other |
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