ScopeRuhr-Universität Bochum Humangenetik RUB
48 capabilities
Accredited since June 2025
Verified Sep 2026
One of 3,103 in Germany
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Details
Universitätsstraße 150
Bochum 44801 , Germany
Bochum 44801 , Germany
Accreditation
Active
DAkkS
D-ML-13425-01-00
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
ActiveSince
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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Test Capabilities (48)
| 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 |
| (HNPP) | Neigung zu Druckläsionen (HNPP) | 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 |
| 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 |
| 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 |
| Amyotrophe Lateralsklerose | SOD1-Gen, Amyotrophe Lateralsklerose | 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 |
| Fragiles X-Syndrom (Fra(X)) (FMR1- Gen) | Fragiles X-Syndrom (Fra(X)) (FMR1- Gen) | 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 |
| NBIA (neurodegeneration with brain iron accumulation) Typ 2 | NBIA (neurodegeneration with brain iron accumulation) Typ 2 | Molecular Diagnostics / PCR |
| Neurodegeneration (PKAN) (PANK2- Gen) | Neurodegeneration (PKAN) (PANK2- Gen) | 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 |
| Hereditäre Neuropathie mit | Hereditäre Neuropathie mit | Other |
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