Ruhr-Universität Bochum Humangenetik RUB

49 capabilities Accredited since June 2025 Verified Apr 2026 One of 3,039 in Germany

Details

Universitätsstraße 150
Bochum 44801 , Germany

Accreditation

Active DAkkS D-ML-13425-01-00
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Provides molecular human genetics testing focusing on genetic analysis of neurodegenerative and inherited disorders. Testing includes next-generation sequencing and agarose gel electrophoresis on blood and DNA samples for conditions such as amyotrophic lateral sclerosis and related genetic variants.

Accreditation Details

Accreditation Body

DAkkS

Number

D-ML-13425-01-00

Status

Active

Since

27 June 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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49 capabilities

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Test Capabilities (49)

Standard Reference Description Category
(ATXN-1-Gen) (ATXN-1-Gen) Biological / Microbiological
(ATXN-2-Gen) (ATXN-2-Gen) Biological / Microbiological
(ATXN-3-Gen) (ATXN-3-Gen) Biological / Microbiological
(CACNA1A-Gen) (CACNA1A-Gen) Biological / Microbiological
(CYP11B1- und CYP11B2-Chimär) (CYP11B1- und CYP11B2-Chimär) Biological / Microbiological
(HSP/SPG) 11 (SPG11-Gen) (HSP/SPG) 11 (SPG11-Gen) Biological / Microbiological
(HSP/SPG) 3 (SPG3-Gen) (HSP/SPG) 3 (SPG3-Gen) Biological / Microbiological
(HSP/SPG) 31 (SPG31-Gen) (HSP/SPG) 31 (SPG31-Gen) Biological / Microbiological
(HSP/SPG) 4 (SPG4-Gen) (HSP/SPG) 4 (SPG4-Gen) Biological / Microbiological
(HSP/SPG) 7 (SPG7-Gen) (HSP/SPG) 7 (SPG7-Gen) Biological / Microbiological
(Huntingtin-Gen) (Huntingtin-Gen) Biological / Microbiological
(LAMA2-Gen) (LAMA2-Gen) Biological / Microbiological
(NF1-Gen) Neurofibromatose (NF) 1 (NF1-Gen) Biological / Microbiological
(PLA2G6-Gen) (PLA2G6-Gen) Biological / Microbiological
Atrophie (DRPLA-Gen) Atrophie (DRPLA-Gen) Biological / Microbiological
Bindegewebserkrankungen: ACTA2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FBN1, MYH11, MYLK, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 Bindegewebserkrankungen: ACTA2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FBN1, MYH11, MYLK, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 Biological / Microbiological
Dentatorubrale-Pallidoluysiane Dentatorubrale-Pallidoluysiane Biological / Microbiological
Fragiles X-Syndrom (Fra(X)) (FMR1- Fragiles X-Syndrom (Fra(X)) (FMR1- Biological / Microbiological
Friedreich Ataxie (Frataxin-Gen) Friedreich Ataxie (Frataxin-Gen) Biological / Microbiological
Glukokortikoid supprimierbarer Glukokortikoid supprimierbarer Biological / Microbiological
Hyperaldosteronismus (GSH) Hyperaldosteronismus (GSH) Biological / Microbiological
Kongenitale Merosinopathie Kongenitale Merosinopathie Biological / Microbiological
Kongenitale autosomal-rezessive Kongenitale autosomal-rezessive Biological / Microbiological
Neigung zu Druckläsionen (HNPP) Neigung zu Druckläsionen (HNPP) Biological / Microbiological
Neurofibromatose (NF) 2 (NF2-Gen) Neurofibromatose (NF) 2 (NF2-Gen) Biological / Microbiological
Panthotenatkinase assoziierte Panthotenatkinase assoziierte Biological / Microbiological
Rett-Syndrom (MeCP2-Gen) Rett-Syndrom (MeCP2-Gen) Biological / Microbiological
Spastische Paraplegien: ATL1, BSCL2, CYP7B1, FA2H, GBA2, GJC2, HSPD1, KIF1A, KIF5A, L1CAM, NIPA1, PLP1, REEP1, RTN2, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG7, WASHC5, ZFYVE26, ZFYVE27 Spastische Paraplegien: ATL1, BSCL2, CYP7B1, FA2H, GBA2, GJC2, HSPD1, KIF1A, KIF5A, L1CAM, NIPA1, PLP1, REEP1, RTN2, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG7, WASHC5, ZFYVE26, ZFYVE27 Biological / Microbiological
Spinocerebelläre Ataxie (SCA) 1 Spinocerebelläre Ataxie (SCA) 1 Biological / Microbiological
Spinocerebelläre Ataxie (SCA) 2 Spinocerebelläre Ataxie (SCA) 2 Biological / Microbiological
Spinocerebelläre Ataxie (SCA) 3 Spinocerebelläre Ataxie (SCA) 3 Biological / Microbiological
Spinocerebelläre Ataxie (SCA) 6 Spinocerebelläre Ataxie (SCA) 6 Biological / Microbiological
Taubheit (GJB2-Gen) Taubheit (GJB2-Gen) Biological / Microbiological
Taubheit (GJB6-Gen) Taubheit (GJB6-Gen) Biological / Microbiological
(ATXN-7-Gen) (ATXN-7-Gen) Molecular Diagnostics / PCR
(TBP-Gen) (TBP-Gen) Molecular Diagnostics / PCR
Ataxien: AFG3L2, ANO10, APTX, CACNA1A, CACNB4, FGF14, GRM1, ITPR1, KCNA1, KCNC3, MARS2, MTPAP, PDYN, PIK3R5, PNKP, PRKCG, SACS, SCN2A, SETX, SLC1A3, SPG7, SPTBN2, STUB1, TDP1, TMEM240, TPP1, VAMP1 Spinocerebelläre Ataxien Molecular Diagnostics / PCR
Chorea Huntington HD; Chorea Huntington Molecular Diagnostics / PCR
Hereditäre Neuropathie mit Hereditäre Neuropathie mit Molecular Diagnostics / PCR
Hereditäre Sensomotorische Neuropathien Hereditäre Sensomotorische Neuropathien Molecular Diagnostics / PCR
Hereditäre spastische Paraplegie Hereditäre spastische Paraplegie Molecular Diagnostics / PCR
Indels, CNVs Indels, CNVs Molecular Diagnostics / PCR
Spinocerebelläre Ataxie (SCA) 17 Spinocerebelläre Ataxie (SCA) 17 Molecular Diagnostics / PCR
Spinocerebelläre Ataxie (SCA) 7 Spinocerebelläre Ataxie (SCA) 7 Molecular Diagnostics / PCR
Whole Exome Sequencing Whole Exome Sequencing Molecular Diagnostics / PCR
Gen) Parietalzellen/Magen) Other
NBIA (neurodegeneration with NBIA (neurodegeneration with Other
Neurodegeneration (PKAN) (PANK2- Neurodegeneration (PKAN) (PANK2- Other
brain iron accumulation) Typ 2 brain iron accumulation) Typ 2 Other
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