ScopeUniversitätsklinikum Carl Gustav Carus Dresden an der Technischen Universität Dresden AöR Genetische Diagnostik
242 capabilities
Accredited since December 2024
Verified Aug 2026
One of 3,107 in Germany
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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 (242)
| Standard Reference | Description | Category |
|---|---|---|
| Antimitochondrialer | Antimitochondrialer | Biocompatibility (ISO 10993) |
| angeborener Chromosomensatz | angeborener Chromosomensatz | 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) |
| Gerinnungsfaktor VIII (Chromogen) | Gerinnungsfaktor VIII (Chromogen) | Clinical Chemistry |
| DIN EN 16585 Teil 1 (2017-05) | DIN EN 16585 Teil 1 | Dimensional / Geometric |
| DIN EN 16585 Teil 2 (2017-05) | DIN EN 16585 Teil 2 | Dimensional / Geometric |
| % (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 |
| IDH2, mitochondriale | IDH2, mitochondriale | 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 |
| ENA-ANA-Combi-Jo-1 | ENA-ANA-Combi-Jo-1 | Immunology / Serology |
| (AAAS) | (AAAS) | Molecular Diagnostics / PCR |
| (ACADM) | (ACADM) | Molecular Diagnostics / PCR |
| (CFTR) | (CFTR) | Molecular Diagnostics / PCR |
| (CMT2EE) (OMIM 618400). (MPV17- Gen) | (CMT2EE) (OMIM 618400). (MPV17- Gen) | Molecular Diagnostics / PCR |
| (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 |
| (LBLS) (OMIM 611105) (c.228- 21_228-20deITTinsC in DARS2-Gen) | (LBLS) (OMIM 611105) (c.228- 21_228-20deITTinsC in DARS2-Gen) | Molecular Diagnostics / PCR |
| (LGMD2L) [OMIM 611307]; nicht | (LGMD2L) [OMIM 611307]; nicht | Molecular Diagnostics / PCR |
| (LHON) (OMIM 535000) | (LHON) (OMIM 535000) | Molecular Diagnostics / PCR |
| (LHON) (OMIM 619382) (DNAJC30- Gen) | (LHON) (OMIM 619382) (DNAJC30- Gen) | 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 |
| (Mitochondria les DNA-Depletions- Syndrom 4A) (OMIM 203700) | (Mitochondria les DNA-Depletions- Syndrom 4A) (OMIM 203700) | Molecular Diagnostics / PCR |
| (OMIM 147421) | (OMIM 147421) | Molecular Diagnostics / PCR |
| (OMIM 182920) (Exon 2; MYOT- Gen) | (OMIM 182920) (Exon 2; MYOT- Gen) | 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 500008) (m.1555A>G RNR1-Gen) | (OMIM 500008) (m.1555A>G RNR1-Gen) | 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 |
| (PAH) | (PAH) | Molecular Diagnostics / PCR |
| (SAVI; OMIM 615934), Chilblain | (SAVI; OMIM 615934), Chilblain | Molecular Diagnostics / PCR |
| (TTN, Exon 344) | (TTN, Exon 344) | Molecular Diagnostics / PCR |
| (heteroplasmatisch m.8993T>G oder m.8993T>C in MT-ATP6) | (heteroplasmatisch m.8993T>G oder m.8993T>C in MT-ATP6) | 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 |
| (maternal vererbtes Leigh- SyndromHOMIM 256000) ; externer | (maternal vererbtes Leigh- SyndromHOMIM 256000) ; externer | Molecular Diagnostics / PCR |
| (mecA-Gen) | (mecA-Gen) | Molecular Diagnostics / PCR |
| (myopathische Form) (OMIM 609560). (TK2-Gen) | (myopathische Form) (OMIM 609560). (TK2-Gen) | Molecular Diagnostics / PCR |
| /MILS (maternal vererbtes Leigh- SyndromHOMIM 256000); Overlap | /MILS (maternal vererbtes Leigh- SyndromHOMIM 256000); Overlap | Molecular Diagnostics / PCR |
| /MILS (maternally inherited Leigh syndromeHOMIM 256000) | /MILS (maternally inherited Leigh syndromeHOMIM 256000) | Molecular Diagnostics / PCR |
| 225750), Chilblain Lupus (OMIM | 225750), Chilblain Lupus (OMIM | Molecular Diagnostics / PCR |
| 3M-Syndrom | 3M-Syndrom | 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 |
| Aicardi-Goutières Syndrom (OMIM 610329) (RNASEH2A) | Aicardi-Goutières Syndrom (OMIM 610329) (RNASEH2A) | Molecular Diagnostics / PCR |
| Aicardi-Goutières Syndrom (OMIM 610329) (RNASEH2B) | Aicardi-Goutières Syndrom (OMIM 610329) (RNASEH2B) | Molecular Diagnostics / PCR |
| Aicardi-Goutières Syndrom (OMIM 610329) (RNASEH2C) | Aicardi-Goutières Syndrom (OMIM 610329) (RNASEH2C) | Molecular Diagnostics / PCR |
| Aicardi-Goutières Syndrom (OMIM 610329) (SAMHD1) | Aicardi-Goutières Syndrom (OMIM 610329) (SAMHD1) | Molecular Diagnostics / PCR |
| Aicardi-Goutières Syndrom (OMIM 615010) (ADAR) | Aicardi-Goutières Syndrom (OMIM 615010) (ADAR) | Molecular Diagnostics / PCR |
| Aicardi-Goutières Syndrom (OMIM 615846), Singleton-Merten | Aicardi-Goutières Syndrom (OMIM 615846), Singleton-Merten | Molecular Diagnostics / PCR |
| Aicardi-Goutières Syndrom (OMIM1 225750), Chilblain Lupus (OMIM 610448) (TREX1) | Aicardi-Goutières Syndrom (OMIM1 225750), Chilblain Lupus (OMIM 610448) (TREX1) | 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 |
| Chronisch progressive externe | Chronisch progressive externe | Molecular Diagnostics / PCR |
| Clouston-Syndrom | Clouston-Syndrom | 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 |
| Deletionen, Typ 1 (PEOA1) (OMIM 157640); externer progressive | Deletionen, Typ 1 (PEOA1) (OMIM 157640); externer progressive | Molecular Diagnostics / PCR |
| Depletions-Syndrom 3, hepatozerebrale Form (OMIM 251880); (DGUOK-Gen) | Depletions-Syndrom 3, hepatozerebrale Form (OMIM 251880); (DGUOK-Gen) | Molecular Diagnostics / PCR |
| Depletions-Syndrom 8A | Depletions-Syndrom 8A | Molecular Diagnostics / PCR |
| Depletions-Syndrom 8B (MNGIE- Typ) (OMIM 612075) (RRM2B-Gen) | Depletions-Syndrom 8B (MNGIE- Typ) (OMIM 612075) (RRM2B-Gen) | 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 |
| Erwachsenenalter (Myofibrilläre Myopathie 2, MFM2) (OMIM 608810); Kardiomyopathie, dilatative familiäre Typ 111 (OMIM 615184). (CRYAB-Gen) | Erwachsenenalter (Myofibrilläre Myopathie 2, MFM2) (OMIM 608810); Kardiomyopathie, dilatative familiäre Typ 111 (OMIM 615184). (CRYAB-Gen) | Molecular Diagnostics / PCR |
| Externe progressive | Externe progressive | Molecular Diagnostics / PCR |
| Externer progressive | Externer progressive | 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 |
| HyperCKämie; Myalgien mit oder | HyperCKämie; Myalgien mit oder | Molecular Diagnostics / PCR |
| Hypercholesterinämie (OMIM 143890) (LDLR) | Hypercholesterinämie (OMIM 143890) (LDLR) | Molecular Diagnostics / PCR |
| Hypercholesterinämie (OMIM 143890) (PCSK9) | Hypercholesterinämie (OMIM 143890) (PCSK9) | Molecular Diagnostics / PCR |
| Hypercholesterinämie, familiäre | Hypercholesterinämie, familiäre | Molecular Diagnostics / PCR |
| Hyperkalzämie, familiäre | Hyperkalzämie, familiäre | Molecular Diagnostics / PCR |
| Hypertrophe Kardiomyopathie | Hypertrophe Kardiomyopathie | Molecular Diagnostics / PCR |
| Hypertrophe Kardiomyopathie. | Hypertrophe Kardiomyopathie. | Molecular Diagnostics / PCR |
| Hämaturie, benigne familiäre | Hämaturie, benigne familiäre | 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 |
| Katarakte (m.3243A>T in MT-TL1- Gen) | Katarakte (m.3243A>T in MT-TL1- Gen) | Molecular Diagnostics / PCR |
| Kearns-Sayre-Syndrom (OMIM 530000); Pearson-Syndrom (OMIM 557000);Externe progressive | Kearns-Sayre-Syndrom (OMIM 530000); Pearson-Syndrom (OMIM 557000);Externe progressive | Molecular Diagnostics / PCR |
| Lebersche Optikusneuropathie | Lebersche Optikusneuropathie | 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 (komplette mtDNA) | Mitochondriopathie (komplette mtDNA) | Molecular Diagnostics / PCR |
| Mitochondriopathie MT-TK-Gen | Mitochondriopathie MT-TK-Gen | Molecular Diagnostics / PCR |
| Muskelbeschwerden (myopathische Form) [MIM: 255110]. (CPT2-Gen) | Muskelbeschwerden (myopathische Form) [MIM: 255110]. (CPT2-Gen) | Molecular Diagnostics / PCR |
| Muskeldystrophie (OMIM 164300). | Muskeldystrophie (OMIM 164300). | Molecular Diagnostics / PCR |
| Muskeldystrophie (SPMD) (OMIM 300695); X-chromosomale | Muskeldystrophie (SPMD) (OMIM 300695); X-chromosomale | 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 Beginn im | Myopathie mit Beginn im | Molecular Diagnostics / PCR |
| Myopathie mit posturaler | Myopathie mit posturaler | Molecular Diagnostics / PCR |
| Myopathie, angeboren, mit Tremor | Myopathie, angeboren, mit Tremor | Molecular Diagnostics / PCR |
| Myotilinopathie, distale) (OMIM | Myotilinopathie, distale) (OMIM | Molecular Diagnostics / PCR |
| Neuropathie, Typ 2EE (CMT2EE) | Neuropathie, Typ 2EE (CMT2EE) | Molecular Diagnostics / PCR |
| Nummerische Veränderungen | Nummerische Veränderungen | 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 |
| Polyarteritis nodosa (OMIM 615688), Sneddon Syndrom (OMIM 182410) (CECR1) | Polyarteritis nodosa (OMIM 615688), Sneddon Syndrom (OMIM 182410) (CECR1) | Molecular Diagnostics / PCR |
| Polyneuropathie; ataktisches | Polyneuropathie; ataktisches | 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 |
| 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 (TNFRSF1A) | Syndrom (TNFRSF1A) | Molecular Diagnostics / PCR |
| Syndrom 4B (MNGIE-Typ) (OMIM 613662); (POLG-Gen) | Syndrom 4B (MNGIE-Typ) (OMIM 613662); (POLG-Gen) | Molecular Diagnostics / PCR |
| Syndrom 6 (hepatozerebrale Form) | Syndrom 6 (hepatozerebrale Form) | Molecular Diagnostics / PCR |
| Syndrom Typ 7 (Hepatozerebrales form) (OMIM 271245); infantile | Syndrom Typ 7 (Hepatozerebrales form) (OMIM 271245); infantile | Molecular Diagnostics / PCR |
| Syndrom des Kindesalters | Syndrom des Kindesalters | Molecular Diagnostics / PCR |
| Syndrom; maternal vererbter | Syndrom; maternal vererbter | Molecular Diagnostics / PCR |
| Syndrom](0MIM 256000) ; externer | Syndrom](0MIM 256000) ; externer | Molecular Diagnostics / PCR |
| Syndrome (NLRP3) | Syndrome (NLRP3) | 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 |
| V. Neuropathie, Ataxie, Retinitis | V. Neuropathie, Ataxie, Retinitis | Molecular Diagnostics / PCR |
| Wadenmuskelatrophie mit oder | Wadenmuskelatrophie mit oder | Molecular Diagnostics / PCR |
| Whole Exome Sequencing | Whole Exome Sequencing | Molecular Diagnostics / PCR |
| Whole Genome Sequencing | Whole Genome Sequencing | Molecular Diagnostics / PCR |
| aDie Proben werden vom Labor | aDie Proben werden vom Labor | Molecular Diagnostics / PCR |
| ataktische Neuropathie - Dysarthrie | ataktische Neuropathie - Dysarthrie | Molecular Diagnostics / PCR |
| chromosomal, Typ la (RBM) (OMIM 300717); X-chromosomale | chromosomal, Typ la (RBM) (OMIM 300717); X-chromosomale | Molecular Diagnostics / PCR |
| chromosomaler/numerischer | chromosomaler/numerischer | Molecular Diagnostics / PCR |
| dominant (OMIM 157640; OMIM 613077; OMIM 609286); externer | dominant (OMIM 157640; OMIM 613077; OMIM 609286); externer | Molecular Diagnostics / PCR |
| dominante progressive externe | dominante progressive externe | Molecular Diagnostics / PCR |
| fibers (MERRF-syndrom) (OMIM 545000); MERRF/MELAS Overlap | fibers (MERRF-syndrom) (OMIM 545000); MERRF/MELAS Overlap | Molecular Diagnostics / PCR |
| gezielte Variantentestung | gezielte Variantentestung | Molecular Diagnostics / PCR |
| isoliert auftretende Katarakt | isoliert auftretende Katarakt | Molecular Diagnostics / PCR |
| ldentifizierung kleinster | ldentifizierung kleinster | Molecular Diagnostics / PCR |
| lmmundysregulation (OMIM 607944) (ACP5) | lmmundysregulation (OMIM 607944) (ACP5) | Molecular Diagnostics / PCR |
| lnnenohrschwerhörigkeit (OMIM 580000) (MT-RNR1-Gen) | lnnenohrschwerhörigkeit (OMIM 580000) (MT-RNR1-Gen) | Molecular Diagnostics / PCR |
| lnnenohrschwerhörigkeit (OMIM 580000); maternal vererbter | lnnenohrschwerhörigkeit (OMIM 580000); maternal vererbter | 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 |
| nicht-syndromale, mitochondriale | nicht-syndromale, mitochondriale | Molecular Diagnostics / PCR |
| ohne HyperCKämie (AN05-Gen c.191dupA p.Asn64LysfsX15) | ohne HyperCKämie (AN05-Gen c.191dupA p.Asn64LysfsX15) | Molecular Diagnostics / PCR |
| pigmentosa (NARP Syndrom) | pigmentosa (NARP Syndrom) | Molecular Diagnostics / PCR |
| receptor associated periodic fever | receptor associated periodic fever | Molecular Diagnostics / PCR |
| red-fibers (MERRF-syndrom) (OMIM 545000); Multiple symmetrische | red-fibers (MERRF-syndrom) (OMIM 545000); Multiple symmetrische | Molecular Diagnostics / PCR |
| renaler Tubulopathie) (OMIM | renaler Tubulopathie) (OMIM | Molecular Diagnostics / PCR |
| respiratorischer lnsuffienz (HMERF) | respiratorischer lnsuffienz (HMERF) | Molecular Diagnostics / PCR |
| rezessive progressive externe | rezessive progressive externe | 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 |
| spastische Paraplegie. (MT-ATP6- Gen; OMIM 516060) | spastische Paraplegie. (MT-ATP6- Gen; OMIM 516060) | Molecular Diagnostics / PCR |
| spinozerebelläre Ataxie (IOSCA) | spinozerebelläre Ataxie (IOSCA) | 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 |
| (LBLS) (OMIM 611105) (c.228- | (LBLS) (OMIM 611105) (c.228- | Other |
| /MILS (maternally inherited Leigh syndromel(OMIM 256000) | /MILS (maternally inherited Leigh syndromel(OMIM 256000) | Other |
| Beteiligung von Hirnstamm und | Beteiligung von Hirnstamm und | Other |
| Chromosomen 13, 18, 21, X und | Chromosomen 13, 18, 21, X und | Other |
| Deletionen (PEOB (OMIM 258450); Mitochondriales recessives Ataxie- Syndrom, beinhaltet: sensorisch- | Deletionen (PEOB (OMIM 258450); Mitochondriales recessives Ataxie- Syndrom, beinhaltet: sensorisch- | Other |
| Form mit renaler Tubulopathie) | Form mit renaler Tubulopathie) | Other |
| Hereditärer Brust- und | Hereditärer Brust- und | Other |
| Komplette mtDNA Teil 1: | Komplette mtDNA Teil 1: | Other |
| Komplette mtDNA Teil 2: | Komplette mtDNA Teil 2: | Other |
| Leukoencephalopathie mit | Leukoencephalopathie mit | Other |
| Myopathie, mitochondriale, mit | Myopathie, mitochondriale, mit | Other |
| Ophthalmoplegie (SANDO) und | Ophthalmoplegie (SANDO) und | Other |
| Reihe klinischer Symptome in | Reihe klinischer Symptome in | Other |
| Septische Granulomatose (chronic | Septische Granulomatose (chronic | Other |
| Spondyloenchondrodysplasia mit | Spondyloenchondrodysplasia mit | Other |
| Syndrom; Encephalopathie / | Syndrom; Encephalopathie / | Other |
| TK-Gen) | TK-Gen) | Other |
| Verbindung gebracht mit: | Verbindung gebracht mit: | 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 |
| m.3243A>G in MT-TL1 Teil 1: | m.3243A>G in MT-TL1 Teil 1: | Other |
| m.3243A>G in MT-TL1 Teil 2: Leigh- | m.3243A>G in MT-TL1 Teil 2: Leigh- | Other |
| m.3243A>G mutation in MT-TL1- | m.3243A>G mutation in MT-TL1- | Other |
| myofibrilläre Myopathie 1 (MFM (OMIM 601419); Neurogenes scapulo-peroneales Syndrom Typ | myofibrilläre Myopathie 1 (MFM (OMIM 601419); Neurogenes scapulo-peroneales Syndrom Typ | Other |
| spinozerebelläre Ataxie mit | spinozerebelläre Ataxie mit | Other |
| AMA-Subtyp-M2 | AMA-Subtyp-M2 | Spectroscopy (XRF, ICP, AAS) |
| DP0010 - Diabetes mellitus | DP0010 - Diabetes mellitus | Spectroscopy (XRF, ICP, AAS) |
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