ScopeUniversitätsklinikum Carl Gustav Carus Dresden an der Technischen Universität Dresden AöR Genetische Diagnostik
265 capabilities
Accredited since December 2024
Verified Apr 2026
One of 3,039 in Germany
Details
Fetscherstraße 74
Dresden 01307 , Germany
Dresden 01307 , Germany
Accreditation
Active
DAkkS
D-ML-19730-02-00
Specialises in human genetics diagnostics covering cytogenetics and molecular human genetics. Services include chromosome analysis, copy number variation analysis, and DNA sequencing-based methods on clinical specimens such as blood, amniotic fluid, and tissue samples.
Accreditation Details
Accreditation Body
DAkkS
Number
D-ML-19730-02-00
Status
ActiveSince
20 December 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 (265)
| Standard Reference | Description | Category |
|---|---|---|
| Angeborener Chromosomensatz | angeborener Chromosomensatz | Biocompatibility (ISO 10993) |
| Antimitochondrialer | Antimitochondrialer | Biocompatibility (ISO 10993) |
| MCAD-Mangel (OMIM 201450) | MCAD-Mangel (OMIM 201450) | Chromatography (GC, HPLC) |
| Phenylketonurie (OMIM 261600) | Phenylketonurie (OMIM 261600) | Chromatography (GC, HPLC) |
| Psoriasis pustulosa (OMIM 614204) | Psoriasis pustulosa (OMIM 614204) | Chromatography (GC, HPLC) |
| STING-assoziierte Vaskulopathie | STING-assoziierte Vaskulopathie | Chromatography (GC, HPLC) |
| % (Hz) 0 | ± 1 | % (Hz) 0 | ± 1 | Electrical |
| Deletionen/Depletion mtDNA Teil | Deletionen/Depletion mtDNA Teil | Elemental Analysis |
| Deletionen/Depletion mtDNA Tell | Deletionen/Depletion mtDNA Tell | Elemental Analysis |
| Komplette mtDNA Teil 1: | Komplette mtDNA Teil 1: | Elemental Analysis |
| Komplette mtDNA Teil 2: | Komplette mtDNA Teil 2: | Elemental Analysis |
| Komplette mtDNA Teil 3: Overlap | Komplette mtDNA Teil 3: Overlap | Elemental Analysis |
| MT-ATP6-Gen Teil 1: lsolierter | MT-ATP6-Gen Teil 1: lsolierter | Elemental Analysis |
| (Deletionen/Depletion mtDNA) | (Deletionen/Depletion mtDNA) | Molecular Diagnostics / PCR |
| (IL36RN) | (IL36RN) | Molecular Diagnostics / PCR |
| (Katarakt 16, mehrere Typen ) | (Katarakt 16, mehrere Typen ) | Molecular Diagnostics / PCR |
| (LGMD2L) [OMIM 611307]; nicht | (LGMD2L) [OMIM 611307]; nicht | Molecular Diagnostics / PCR |
| (LHON) (OMIM 535000) | (LHON) (OMIM 535000) | Molecular Diagnostics / PCR |
| (MELAS) (OMIM 540000) | (MELAS) (OMIM 540000) | Molecular Diagnostics / PCR |
| (MIDDM) (OMIM 520000), maternal vererbter Diabetes | (MIDDM) (OMIM 520000), maternal vererbter Diabetes | Molecular Diagnostics / PCR |
| (MIDDM) (OMIM 520000); externer | (MIDDM) (OMIM 520000); externer | Molecular Diagnostics / PCR |
| (NLRP3) | Syndrome (NLRP3) | Molecular Diagnostics / PCR |
| (OMIM 147421) | (OMIM 147421) | Molecular Diagnostics / PCR |
| (OMIM 231550) (GMPPA) | (OMIM 231550) (GMPPA) | Molecular Diagnostics / PCR |
| (OMIM 271245); Perrault-Syndrom | (OMIM 271245); Perrault-Syndrom | Molecular Diagnostics / PCR |
| (OMIM 300696). (FHL1-Gen) | (OMIM 300696). (FHL1-Gen) | Molecular Diagnostics / PCR |
| (OMIM 500006) (MT-ATP8) | (OMIM 500006) (MT-ATP8) | Molecular Diagnostics / PCR |
| (OMIM 551500); Leigh-Syndrom | (OMIM 551500); Leigh-Syndrom | Molecular Diagnostics / PCR |
| (OMIM 601419); Neurogenes | (OMIM 601419); Neurogenes | Molecular Diagnostics / PCR |
| (OMIM 612075); Hepatozerebrales | (OMIM 612075); Hepatozerebrales | Molecular Diagnostics / PCR |
| (OMIM 613399, 614291, 612555) | (OMIM 613399, 614291, 612555) | Molecular Diagnostics / PCR |
| (OMIM 613763); myofibrilläre | (OMIM 613763); myofibrilläre | Molecular Diagnostics / PCR |
| (OMIM 615510), Triple-A-Syndroms | (OMIM 615510), Triple-A-Syndroms | Molecular Diagnostics / PCR |
| (OMIM 618524). (MYBPC1-Gen, Exon 1) | (OMIM 618524). (MYBPC1-Gen, Exon 1) | Molecular Diagnostics / PCR |
| (SAVI; OMIM 615934), Chilblain | (SAVI; OMIM 615934), Chilblain | Molecular Diagnostics / PCR |
| (TNFRSF1A) | Syndrom (TNFRSF1A) | Molecular Diagnostics / PCR |
| (TTN, Exon 344) | (TTN, Exon 344) | Molecular Diagnostics / PCR |
| (m.3243A>G in MT-TL1) | (m.3243A>G in MT-TL1) | Molecular Diagnostics / PCR |
| (m.3460G>A, m.11778G>A, m.14484T>C in mtDNA) | (m.3460G>A, m.11778G>A, m.14484T>C in mtDNA) | Molecular Diagnostics / PCR |
| (m.8344 in MT-TK) | (m.8344 in MT-TK) | Molecular Diagnostics / PCR |
| 225750), Chilblain Lupus (OMIM | 225750), Chilblain Lupus (OMIM | Molecular Diagnostics / PCR |
| 5 (OMIM 616138) (TWNK-Gen) | 5 (OMIM 616138) (TWNK-Gen) | Molecular Diagnostics / PCR |
| 530000); Pearson-Syndrom (OMIM | 530000); Pearson-Syndrom (OMIM | Molecular Diagnostics / PCR |
| 608810); Kardiomyopathie, dilatative familiäre Typ 111 (OMIM | 608810); Kardiomyopathie, dilatative familiäre Typ 111 (OMIM | Molecular Diagnostics / PCR |
| 613319]; idiopathische hohe | 613319]; idiopathische hohe | Molecular Diagnostics / PCR |
| 615688), Sneddon Syndrom (OMIM | 615688), Sneddon Syndrom (OMIM | Molecular Diagnostics / PCR |
| ATP6-assoziierte mitochondriale | ATP6-assoziierte mitochondriale | Molecular Diagnostics / PCR |
| Alakrimie-Achalasie-Mentale | Alakrimie-Achalasie-Mentale | Molecular Diagnostics / PCR |
| Alpers-Huttenlocher Syndrom | Alpers-Huttenlocher Syndrom | Molecular Diagnostics / PCR |
| Aminoglykosidinduzierte | Aminoglykosidinduzierte | Molecular Diagnostics / PCR |
| Amyloidose (ATTRy), Vielzahl von | Amyloidose (ATTRy), Vielzahl von | Molecular Diagnostics / PCR |
| Atmungskettendefekt im Komplex | Atmungskettendefekt im Komplex | Molecular Diagnostics / PCR |
| Ausschlusstest Fragiles X-Syndrom | Ausschlusstest Fragiles X-Syndrom | Molecular Diagnostics / PCR |
| Beginn, autosomal-rezessive | Beginn, autosomal-rezessive | Molecular Diagnostics / PCR |
| Beginn; axonale sensomotorische | Beginn; axonale sensomotorische | Molecular Diagnostics / PCR |
| CNV-Detektion, genomweit | CNV-Detektion, genomweit | Molecular Diagnostics / PCR |
| Chromosomen 13, 18, 21, X und | Chromosomen 13, 18, 21, X und | Molecular Diagnostics / PCR |
| Cryopyrin associated periodic fever | Cryopyrin associated periodic fever | Molecular Diagnostics / PCR |
| Cystic Fibrosis (CF, OMIM 219700) | Cystic Fibrosis (CF, OMIM 219700) | Molecular Diagnostics / PCR |
| Depletions-Syndrom 8A | Depletions-Syndrom 8A | Molecular Diagnostics / PCR |
| Depletions-Syndrom Typ 8A | Depletions-Syndrom Typ 8A | Molecular Diagnostics / PCR |
| Diabetes mit Schwerhörigkeit | Diabetes mit Schwerhörigkeit | Molecular Diagnostics / PCR |
| Dilatative Kardiomyopathie 11 | Dilatative Kardiomyopathie 11 | Molecular Diagnostics / PCR |
| Dreifuss Muskeldystrophie (EDMD) | Dreifuss Muskeldystrophie (EDMD) | Molecular Diagnostics / PCR |
| ECHS1-assoziierte mitochondriale | ECHS1-assoziierte mitochondriale | Molecular Diagnostics / PCR |
| Eierstockkrebs (ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, RAD51C, RAD51D, TP53, BRIP1) | Eierstockkrebs (ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, RAD51C, RAD51D, TP53, BRIP1) | Molecular Diagnostics / PCR |
| Einschlugkörperchenmyositis (IBM) | Einschlugkörperchenmyositis (IBM) | Molecular Diagnostics / PCR |
| Enzephalomyopathie, Laktatazidose | Enzephalomyopathie, Laktatazidose | Molecular Diagnostics / PCR |
| Externe progressive | Externe progressive | Molecular Diagnostics / PCR |
| Externer progressive | Externer progressive | Molecular Diagnostics / PCR |
| Familiäre | Hypercholesterinämie, familiäre | Molecular Diagnostics / PCR |
| Funktionsstörungen, bilaterale | Funktionsstörungen, bilaterale | Molecular Diagnostics / PCR |
| GCG Repeat | GCG Repeat | Molecular Diagnostics / PCR |
| Gen (Heteroplasmiegrad) | Gen (Heteroplasmiegrad) | Molecular Diagnostics / PCR |
| Gliedergürteldystrophie Typ 2L | Gliedergürteldystrophie Typ 2L | Molecular Diagnostics / PCR |
| Glut1-Defizienz-Syndrom | Glut1-Defizienz-Syndrom | Molecular Diagnostics / PCR |
| HNPCC (Lynch-syndrom) (MLH1, MSH2, MSH6, APC, PSM2, MUTYH, CDH1) (OMIM 614385, 614350, 614337, 614331, 613244, 609310) | HNPCC (Lynch-syndrom)(MLH1, MSH2, MSH6, APC, PSM2, MUTYH, CDH1) (OMIM 614385, 614350, 614337, 614331, 613244, 609310) | Molecular Diagnostics / PCR |
| Hereditäre Myopathie mit früher | Hereditäre Myopathie mit früher | Molecular Diagnostics / PCR |
| Hereditäre mitochondriale, Lebersche Optikusneuropathie | Hereditäre mitochondriale, Lebersche Optikusneuropathie | Molecular Diagnostics / PCR |
| Hereditäre, autosomal-rezessive | Hereditäre, autosomal-rezessive | Molecular Diagnostics / PCR |
| Hereditärer Brust- und | Hereditärer Brust- und | Molecular Diagnostics / PCR |
| Hypertrophe Kardiomyopathie. | Hypertrophe Kardiomyopathie. | Molecular Diagnostics / PCR |
| ICE-fever (CASP1) | ICE-fever (CASP1) | Molecular Diagnostics / PCR |
| Kaeser (SCPNK, OMIM 181400) | Kaeser (SCPNK, OMIM 181400) | Molecular Diagnostics / PCR |
| Karpaltunnelsydrome (TTR-Gen) | Karpaltunnelsydrome (TTR-Gen) | Molecular Diagnostics / PCR |
| Lebersche Optikusneuropathie | Lebersche Optikusneuropathie | Molecular Diagnostics / PCR |
| Leukoencephalopathie mit | Leukoencephalopathie mit | Molecular Diagnostics / PCR |
| Lupus (OMIM 610448) (TMEM173) | Lupus (OMIM 610448) (TMEM173) | Molecular Diagnostics / PCR |
| MERRF/MELAS Overlap Syndrom | MERRF/MELAS Overlap Syndrom | Molecular Diagnostics / PCR |
| MT-ATP6-Gen Teil 2: Overlap | MT-ATP6-Gen Teil 2: Overlap | Molecular Diagnostics / PCR |
| MT-TL1-Gen Teil 2: Leigh-Syndrom | MT-TL1-Gen Teil 2: Leigh-Syndrom | Molecular Diagnostics / PCR |
| MT-TL1-GenTeil 1: Mitochondria | MT-TL1-GenTeil 1: Mitochondria | Molecular Diagnostics / PCR |
| Mangel (OMIM 500009); Ataxie | Mangel (OMIM 500009); Ataxie | Molecular Diagnostics / PCR |
| Mangel, adulter Beginn, rnit | Mangel, adulter Beginn, rnit | Molecular Diagnostics / PCR |
| Mangel, letal mit neonatalem | Mangel, letal mit neonatalem | Molecular Diagnostics / PCR |
| Mitochondriopathie MT-TK-Gen | Mitochondriopathie MT-TK-Gen | Molecular Diagnostics / PCR |
| Muskeldystrophie (OMIM 164300). | Muskeldystrophie (OMIM 164300). | Molecular Diagnostics / PCR |
| Muskelschwäche, sensorineurale | Muskelschwäche, sensorineurale | Molecular Diagnostics / PCR |
| Myopathie 2, MFM2) (OMIM | Myopathie 2, MFM2) (OMIM | Molecular Diagnostics / PCR |
| Myopathie Typ 3 (MMD3) [OMIM | Myopathie Typ 3 (MMD3) [OMIM | Molecular Diagnostics / PCR |
| Myopathie mit posturaler | Myopathie mit posturaler | Molecular Diagnostics / PCR |
| Myopathie, angeboren, mit Tremor | Myopathie, angeboren, mit Tremor | Molecular Diagnostics / PCR |
| Myopathie, mitochondriale, mit | Myopathie, mitochondriale, mit | Molecular Diagnostics / PCR |
| Myotilinopathie, distale) (OMIM | Myotilinopathie, distale) (OMIM | Molecular Diagnostics / PCR |
| Neuropathie, Ataxie, Retinitis | V. Neuropathie, Ataxie, Retinitis | Molecular Diagnostics / PCR |
| Neuropathie, Typ 2EE (CMT2EE) | Neuropathie, Typ 2EE (CMT2EE) | Molecular Diagnostics / PCR |
| Nummerische Veränderungen | Nummerische Veränderungen | Molecular Diagnostics / PCR |
| Ophthalmoplegie (SANDO) und | Ophthalmoplegie (SANDO) und | Molecular Diagnostics / PCR |
| Ophthalmoplegie, autosomal | Ophthalmoplegie, autosomal | Molecular Diagnostics / PCR |
| PABPN1 (OMIM: 602279) Exon | PABPN1 (OMIM: 602279) Exon | Molecular Diagnostics / PCR |
| PABPN1-Gen, Okulopharyngeale | PABPN1-Gen, Okulopharyngeale | Molecular Diagnostics / PCR |
| Ployneuropathie, Kardiomyopathie, gastrointestinale | Ployneuropathie, Kardiomyopathie, gastrointestinale | Molecular Diagnostics / PCR |
| Polyneuropathie; ataktisches | Polyneuropathie; ataktisches | Molecular Diagnostics / PCR |
| Reihe klinischer Symptome in | Reihe klinischer Symptome in | Molecular Diagnostics / PCR |
| Repeatanalyse FMR1 | Repeatanalyse FMR1 | Molecular Diagnostics / PCR |
| Retardierung (AAMR)-Syndrom | Retardierung (AAMR)-Syndrom | Molecular Diagnostics / PCR |
| Rhabdomyolyse, bilaterale | Rhabdomyolyse, bilaterale | Molecular Diagnostics / PCR |
| Rückenmark und Laktateröhung | Rückenmark und Laktateröhung | Molecular Diagnostics / PCR |
| Schwerhörigkeit; externer | Schwerhörigkeit; externer | Molecular Diagnostics / PCR |
| Spheroidkörperchenmyopathie | Spheroidkörperchenmyopathie | Molecular Diagnostics / PCR |
| Spondyloenchondrodysplasia mit | Spondyloenchondrodysplasia mit | Molecular Diagnostics / PCR |
| Symptomen möglich wie z.B. | Symptomen möglich wie z.B. | Molecular Diagnostics / PCR |
| Syndrom (OMIM 182250) (IFIH1) | Syndrom (OMIM 182250) (IFIH1) | Molecular Diagnostics / PCR |
| Syndrom 6 (hepatozerebrale Form) | Syndrom 6 (hepatozerebrale Form) | Molecular Diagnostics / PCR |
| Syndrom des Kindesalters | Syndrom des Kindesalters | Molecular Diagnostics / PCR |
| Syndrom, beinhaltet: sensorisch- | Syndrom, beinhaltet: sensorisch- | Molecular Diagnostics / PCR |
| Syndrom; Encephalopathie / | Syndrom; Encephalopathie / | Molecular Diagnostics / PCR |
| Syndrom; maternal vererbter | Syndrom; maternal vererbter | Molecular Diagnostics / PCR |
| Syndrom](0MIM 256000) ; externer | Syndrom](0MIM 256000) ; externer | Molecular Diagnostics / PCR |
| TTR-Amyloidose (MIM: 105210) | TTR-Amyloidose (MIM: 105210) | Molecular Diagnostics / PCR |
| Tooth-Neuropathie, Typ 2EE | Tooth-Neuropathie, Typ 2EE | Molecular Diagnostics / PCR |
| Triple-A-syndrom (OMIM 231550) | Triple-A-syndrom (OMIM 231550) | Molecular Diagnostics / PCR |
| Tumor necrosis factor alpha | Tumor necrosis factor alpha | Molecular Diagnostics / PCR |
| Typ (OMIM 613662; OMIM 612075) | Typ (OMIM 613662; OMIM 612075) | Molecular Diagnostics / PCR |
| Verbindung gebracht mit: | Verbindung gebracht mit: | Molecular Diagnostics / PCR |
| Whole Exome Sequencing | Whole Exome Sequencing | Molecular Diagnostics / PCR |
| Whole Genome Sequencing | Whole Genome Sequencing | Molecular Diagnostics / PCR |
| ataktische Neuropathie - Dysarthrie | ataktische Neuropathie - Dysarthrie | Molecular Diagnostics / PCR |
| chromosomaler/numerischer | chromosomaler/numerischer | Molecular Diagnostics / PCR |
| dominante progressive externe | dominante progressive externe | Molecular Diagnostics / PCR |
| gezielte Variantentestung | gezielte Variantentestung | Molecular Diagnostics / PCR |
| ldentifizierung kleinster | ldentifizierung kleinster | Molecular Diagnostics / PCR |
| m.3243A>G in MT-TL1 Teil 1: | m.3243A>G in MT-TL1 Teil 1: | Molecular Diagnostics / PCR |
| m.3243A>G in MT-TL1 Teil 2: Leigh- | m.3243A>G in MT-TL1 Teil 2: Leigh- | Molecular Diagnostics / PCR |
| m.3243A>G mutation in MT-TL1- | m.3243A>G mutation in MT-TL1- | Molecular Diagnostics / PCR |
| nekrotisierende infantile, maternal | nekrotisierende infantile, maternal | Molecular Diagnostics / PCR |
| nekrotisierende subakute | nekrotisierende subakute | Molecular Diagnostics / PCR |
| nekrotisierende subakute, maternal | nekrotisierende subakute, maternal | Molecular Diagnostics / PCR |
| pigmentosa (NARP Syndrom) | pigmentosa (NARP Syndrom) | Molecular Diagnostics / PCR |
| receptor associated periodic fever | receptor associated periodic fever | Molecular Diagnostics / PCR |
| renaler Tubulopathie) (OMIM | renaler Tubulopathie) (OMIM | Molecular Diagnostics / PCR |
| respiratorischer lnsuffienz (HMERF) | respiratorischer lnsuffienz (HMERF) | Molecular Diagnostics / PCR |
| rezessive spinozerebelläre Ataxie | rezessive spinozerebelläre Ataxie | Molecular Diagnostics / PCR |
| scapulo-peroneales Syndrom Typ | scapulo-peroneales Syndrom Typ | Molecular Diagnostics / PCR |
| scapuloperoneale | scapuloperoneale | Molecular Diagnostics / PCR |
| sensomotorische axonale | sensomotorische axonale | Molecular Diagnostics / PCR |
| spinozerebelläre Ataxie (IOSCA) | spinozerebelläre Ataxie (IOSCA) | Molecular Diagnostics / PCR |
| spinozerebelläre Ataxie mit | spinozerebelläre Ataxie mit | Molecular Diagnostics / PCR |
| sporadisch | sporadisch | Molecular Diagnostics / PCR |
| syndrome (CAPS, OMIM 606416) | syndrome (CAPS, OMIM 606416) | Molecular Diagnostics / PCR |
| syndrome (TRAPS, OMIM 191190) | syndrome (TRAPS, OMIM 191190) | Molecular Diagnostics / PCR |
| syndromel(OMIM 256000) | syndromel(OMIM 256000) | Molecular Diagnostics / PCR |
| vererbte) /MILS (maternally | vererbte) /MILS (maternally | Molecular Diagnostics / PCR |
| veränderter Chromosomen | veränderter Chromosomen | Molecular Diagnostics / PCR |
| zwischen MILS und NARP | zwischen MILS und NARP | Molecular Diagnostics / PCR |
| zwischen MILS und NARP; Ataxie | zwischen MILS und NARP; Ataxie | Molecular Diagnostics / PCR |
| & 2: 2008 | & 2: 2008 | Other |
| (AAAS) | (AAAS) | Other |
| (ACADM) | (ACADM) | Other |
| (CFTR) | (CFTR) | Other |
| (CMT2EE) (OMIM 618400). (MPV17- | (CMT2EE) (OMIM 618400). (MPV17- | Other |
| (Enzephalopathie, infantile | (Enzephalopathie, infantile | Other |
| (LBLS) (OMIM 611105) (c.228- | (LBLS) (OMIM 611105) (c.228- | Other |
| (LHON) (OMIM 619382) (DNAJC30- | (LHON) (OMIM 619382) (DNAJC30- | Other |
| (OMIM 500008) (m.1555A>G | (OMIM 500008) (m.1555A>G | Other |
| (PAH) | (PAH) | Other |
| (enzephalomyopathische Form | (enzephalomyopathische Form | Other |
| (heteroplasmatisch m.8993T>G | (heteroplasmatisch m.8993T>G | Other |
| (myopathische Form) (OMIM | (myopathische Form) (OMIM | Other |
| /MILS (maternally inherited Leigh | /MILS (maternally inherited Leigh | Other |
| 143890) (LDLR) | 143890) (LDLR) | Other |
| 143890) (PCSK9) | 143890) (PCSK9) | Other |
| 157640); externer progressive | 157640); externer progressive | Other |
| 182410) (CECR1) | 182410) (CECR1) | Other |
| 21_228-20deITTinsC in DARS2-Gen) | 21_228-20deITTinsC in DARS2-Gen) | Other |
| 251880); (DGUOK-Gen) | 251880); (DGUOK-Gen) | Other |
| 256000); Ataxie; sensorineurale | 256000); Ataxie; sensorineurale | Other |
| 256000); maternal vererbter | 256000); maternal vererbter | Other |
| 300695); X-chromosomale | 300695); X-chromosomale | Other |
| 300717); X-chromosomale | 300717); X-chromosomale | Other |
| 545000); MERRF/MELAS Overlap | 545000); MERRF/MELAS Overlap | Other |
| 545000); Multiple symmetrische | 545000); Multiple symmetrische | Other |
| 557000);Externe progressive | 557000);Externe progressive | Other |
| 580000) (MT-RNR1-Gen) | 580000) (MT-RNR1-Gen) | Other |
| 580000); maternal vererbter | 580000); maternal vererbter | Other |
| 607944) (ACP5) | 607944) (ACP5) | Other |
| 609560). (TK2-Gen) | 609560). (TK2-Gen) | Other |
| 610329) (RNASEH2A) | 610329) (RNASEH2A) | Other |
| 610329) (RNASEH2B) | 610329) (RNASEH2B) | Other |
| 610329) (RNASEH2C) | 610329) (RNASEH2C) | Other |
| 610329) (SAMHD1) | 610329) (SAMHD1) | Other |
| 610448) (TREX1) | 610448) (TREX1) | Other |
| 613077; OMIM 609286); externer | 613077; OMIM 609286); externer | Other |
| 613662); (POLG-Gen) | 613662); (POLG-Gen) | Other |
| 615010) (ADAR) | 615010) (ADAR) | Other |
| 615184). (CRYAB-Gen) | 615184). (CRYAB-Gen) | Other |
| 615846), Singleton-Merten | 615846), Singleton-Merten | Other |
| Aicardi-Goutières Syndrom (OMIM | Aicardi-Goutières Syndrom (OMIM | Other |
| Aicardi-Goutières Syndrom (OMIM1 | Aicardi-Goutières Syndrom (OMIM1 | Other |
| Deletionen, Typ 1 (PEOA1) (OMIM | Deletionen, Typ 1 (PEOA1) (OMIM | Other |
| Deletionen, Typ 3 (PE03) (OMIM | Deletionen, Typ 3 (PE03) (OMIM | Other |
| Deletionen, Typ 4 (PE0B4) (OMIM | Deletionen, Typ 4 (PE0B4) (OMIM | Other |
| Deletionen, Typ 5 (PEOA5) (OMIM | Deletionen, Typ 5 (PEOA5) (OMIM | Other |
| Depletions-Syndrom 3, hepatozerebrale Form (OMIM | Depletions-Syndrom 3, hepatozerebrale Form (OMIM | Other |
| Enzephalopathie, maternal vererbt) | Enzephalopathie, maternal vererbt) | Other |
| Erwachsenenalter (Myofibrilläre | Erwachsenenalter (Myofibrilläre | Other |
| Form mit renaler Tubulopathie) | Form mit renaler Tubulopathie) | Other |
| Form) [MIM: 255110]. (CPT2-Gen) | Form) [MIM: 255110]. (CPT2-Gen) | Other |
| Gen) | Parietalzellen/Magen) | Other |
| Gen; OMIM 516060) | Gen; OMIM 516060) | Other |
| Hypercholesterinämie (OMIM | Hypercholesterinämie (OMIM | Other |
| Katarakte (m.3243A>T in MT-TL1- | Katarakte (m.3243A>T in MT-TL1- | Other |
| Kearns-Sayre-Syndrom (OMIM | Kearns-Sayre-Syndrom (OMIM | Other |
| Kindesalters (infantile | Syndrom des Kindesalters (infantile | Other |
| Leukodystrophie (AARS1, AARS2, ABCD1, ALDH3A2, APP, ARSA, AUH, CLCN2, COL4A1, COL4A2, CSF1R, CTSA, CYP27A1, DARS1, DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPRS1, GALC, GBE1, GFAP, GJA1, GJB1, GJC2, GLA, GLB1, GSN, HEPACAM, HEXA, HMGCL, HTRA1, ITM2B, L2HGDH, LAMB1, LARS2, LIG3, LMNB1, MARS1, MCOLN1, MTHFR, NOTCH3, OCRL, PAH, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLP1, POLR1C, POLR3A, POLR3B, PRNP, PSAP, PSEN1, PTEN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, RPS6KA3, SAMHD1, SNORD118, SPG11, SPG21, TREM2, TREX1, TTR, TUBB4A, TYMP, TYROBP, ZFYVE26, MLC1, CST3, CTC1, EARS2, GCDH, KIF5A, MAL, NPC1, PSEN2, TPP2); SNV, CNV | TENT5C, TERC, TERF2IP, TERT, TET2, TFE3, TGFB1, TGFBR2, TLR4, TLX1, TMEM127, TNF, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF14, TNFRSF1A, TNFRSF1B, TNFRSF25, TNFRSF8, TNFSF11, TNK2, TOP1, TOP2A, TP53, TP53BP1, TP63, TPX2, TRAF2, TRAF3, TRAF5, TRAF6, TRAF7, TRRAP, TSC1, TSC2, TSHR, TTK, TUBA4A, TUBB, TYMS, U2AF1, UBE2T, UBR5, UGT2B15, UGT2B7, UIMC1, UNG, USP34, USP9X, VEGFA, VEGFB, VHL, VKORC1, WAS, WASF3, WI5P3, WRN, WT1, XIAP, XPA, XPC, XP01, XRCC1, XRCC2, XRCC3, XRCC5, XRCC6, YAP1, YES1, ZFHX3, ZHX3, ZNF217, ZNRF3, ZRSR2, CDK8, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CEBPA, CENPA, CHD2, CHD4, CHEK1, CHEK2, CIC, CREBBP, CRKL, CRLF2, CSF1R, CSF3R, CSNK1A1, CTCF, CTLA4) | Other |
| Mangel, infantiler Beginn (OMIM | Mangel, infantiler Beginn (OMIM | Other |
| Mitochondriopathie (komplette | Mitochondriopathie (komplette | Other |
| Muskelatrophie (XMPMA) (OMIM | Muskelatrophie (XMPMA) (OMIM | Other |
| Muskelbeschwerden (myopathische | Muskelbeschwerden (myopathische | Other |
| Muskeldystrophie (SPMD) (OMIM | Muskeldystrophie (SPMD) (OMIM | Other |
| Polyarteritis nodosa (OMIM | Polyarteritis nodosa (OMIM | Other |
| Repeatlänge ) | Repeatlänge ) | Other |
| Septische Granulomatose (chronic | Septische Granulomatose (chronic | Other |
| Syndrom 4A) (OMIM 203700) | Syndrom 4A) (OMIM 203700) | Other |
| Syndrom 4B (MNGIE-Typ) (OMIM | Syndrom 4B (MNGIE-Typ) (OMIM | Other |
| Syndrom Typ 7 (Hepatozerebrales | Syndrom Typ 7 (Hepatozerebrales | Other |
| Syndrom des Kindesalters (subakute | Syndrom des Kindesalters (subakute | Other |
| SyndromHOMIM 256000) ; externer | SyndromHOMIM 256000) ; externer | Other |
| SyndromHOMIM 256000); Overlap | SyndromHOMIM 256000); Overlap | Other |
| TK-Gen) | TK-Gen) | Other |
| TL1-Gen) | TL1-Gen) | Other |
| Typ) (OMIM 612075) (RRM2B-Gen) | Typ) (OMIM 612075) (RRM2B-Gen) | Other |
| c.191dupA p.Asn64LysfsX15) | c.191dupA p.Asn64LysfsX15) | Other |
| chromosomal, Typ la (RBM) (OMIM | chromosomal, Typ la (RBM) (OMIM | Other |
| dominant (OMIM 157640; OMIM | dominant (OMIM 157640; OMIM | Other |
| fibers (MERRF-syndrom) (OMIM | fibers (MERRF-syndrom) (OMIM | Other |
| form (OMIM 271245; OMIM | form (OMIM 271245; OMIM | Other |
| form) (OMIM 271245); infantile | form) (OMIM 271245); infantile | Other |
| granulomatous disease, CGD, 300481, 608512) (CYBB) | granulomatous disease, CGD, 300481, 608512) (CYBB) | Other |
| granulomatous disease, CGD, 300481, 608512) (NCF1) | granulomatous disease, CGD, 300481, 608512) (NCF1) | Other |
| inherited Leigh syndrome] (OMIM | inherited Leigh syndrome] (OMIM | Other |
| isoliert auftretende Katarakt | isoliert auftretende Katarakt | Other |
| lmmundysregulation (OMIM | lmmundysregulation (OMIM | Other |
| lnnenohrschwerhörigkeit (OMIM | lnnenohrschwerhörigkeit (OMIM | Other |
| mtDNA) | mtDNA) | Other |
| myofibrilläre Myopathie 1 (MFM | myofibrilläre Myopathie 1 (MFM | Other |
| myopathische Form (OMIM | myopathische Form (OMIM | Other |
| oder m.8993T>C in MT-ATP6) | oder m.8993T>C in MT-ATP6) | Other |
| ohne HyperCKämie (AN05-Gen | ohne HyperCKämie (AN05-Gen | Other |
| red-fibers (MERRF-syndrom) (OMIM | red-fibers (MERRF-syndrom) (OMIM | Other |
| spastische Paraplegie. (MT-ATP6- | spastische Paraplegie. (MT-ATP6- | Other |
| syndromeHOMIM 256000) | syndromeHOMIM 256000) | Other |
| varianten) und strukturell | varianten) und strukturell | Other |
| vererbte, Enzephalopathie) /MILS | vererbte, Enzephalopathie) /MILS | Other |
| DP0010 - Diabetes mellitus | DP0010 - Diabetes mellitus | Spectroscopy (XRF, ICP, AAS) |