Universitätsklinikum Aachen AöR (Uniklinik RWTH Aachen) Institut für Humangenetik und Genommedizin

10 capabilities Accredited since August 2024 Verified Apr 2026 One of 3,039 in Germany

Details

Pauwelsstraße 30
Aachen 52074 , Germany

Accreditation

Active DAkkS D-ML-13154-02-00
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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

Active

Since

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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10 capabilities

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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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