ScopeZentrum für Humangenetik Regensburg Humangenetisches Labor Prof. Hehr
147 capabilities
Accredited since June 2025
Verified Oct 2026
One of 3,209 in Germany
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Details
Luitpoldstraße 4
Regensburg 93047 , Germany
Regensburg 93047 , Germany
Accreditation
Active
DAkkS
D-ML-13117-01-00
www.humangenetik-regensburg.de
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Specialises in molecular human genetics and cytogenetics, providing chromosome analysis and copy number variation detection on blood, amniotic fluid, chorionic villi, and other tissue samples using banding analysis and sequencing-based methods.
Accreditation Details
Accreditation Body
DAkkS
Number
D-ML-13117-01-00
Status
ActiveSince
12 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 (147)
| Standard Reference | Description | Category |
|---|---|---|
| Angeborener Chromosomensatz | angeborener Chromosomensatz | Biocompatibility (ISO 10993) |
| (ABCB11, ABCB4, ATP7B, ATP8B1, BAAT, NR1H4, TJP2) | (ABCB11, ABCB4, ATP7B, ATP8B1, BAAT, NR1H4, TJP2) | Molecular Diagnostics / PCR |
| 22q11.2-Mikrodeletionssyndrom (22q11.2) | 22q11.2-Mikrodeletionssyndrom (22q11.2) | Molecular Diagnostics / PCR |
| ARXopathien (ARX) | ARXopathien (ARX) | Molecular Diagnostics / PCR |
| AZF-Deletion | AZF-Deletion | Molecular Diagnostics / PCR |
| Achondrogenesis 1a (TRIP11) | Achondrogenesis 1a (TRIP11) | Molecular Diagnostics / PCR |
| Achondroplasie (FGFR3) | Achondroplasie (FGFR3) | Molecular Diagnostics / PCR |
| Acrofaziale Dysostose (SF3B4, DHODH) | Acrofaziale Dysostose (SF3B4, DHODH) | Molecular Diagnostics / PCR |
| Adrenogenitales Syndrom (CYP21, CYP11, HSD3B2) | Adrenogenitales Syndrom (CYP21, CYP11, HSD3B2) | Molecular Diagnostics / PCR |
| Agenesie/Hypoplasie Corpus | Agenesie/Hypoplasie Corpus | Molecular Diagnostics / PCR |
| Aicardie-Goutieres-Syndrom (ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1) | Aicardie-Goutieres-Syndrom (ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1) | Molecular Diagnostics / PCR |
| Andermann-Syndrom (KCC3) | Andermann-Syndrom (KCC3) | Molecular Diagnostics / PCR |
| Androgeninsensitivität (AR) | Androgeninsensitivität (AR) | Molecular Diagnostics / PCR |
| Anophthalmie/ Mikrophthalmie (OTX2, SOX2) | Anophthalmie/ Mikrophthalmie (OTX2, SOX2) | Molecular Diagnostics / PCR |
| Antley-Bixler-Syndrom (POR, FGFR2) | Antley-Bixler-Syndrom (POR, FGFR2) | Molecular Diagnostics / PCR |
| Bainbridge-Ropers-Syndrom (ASXL3) | Bainbridge-Ropers-Syndrom (ASXL3) | Molecular Diagnostics / PCR |
| Basalzellnävus-Syndrom (PTCH1, PTCH2, SUFU) | Basalzellnävus-Syndrom (PTCH1, PTCH2, SUFU) | Molecular Diagnostics / PCR |
| Branchio-Okulo-Faziales Syndrom (TFAP2A) | Branchio-Okulo-Faziales Syndrom (TFAP2A) | Molecular Diagnostics / PCR |
| Branchio-oto-renale Dysplasie (EYA1, SIX5, SIX1) | Branchio-oto-renale Dysplasie (EYA1, SIX5, SIX1) | Molecular Diagnostics / PCR |
| CADASIL-Syndrom (NOTCH3) | CADASIL-Syndrom (NOTCH3) | Molecular Diagnostics / PCR |
| CARASIL-Syndrom (HTRA1) | CARASIL-Syndrom (HTRA1) | Molecular Diagnostics / PCR |
| CBAVD (CFTR) | CBAVD (CFTR) | Molecular Diagnostics / PCR |
| Cerebrale Kavernöse | Cerebrale Kavernöse | Molecular Diagnostics / PCR |
| Cholestase bei niedriger Gamma-GT (ATP8B1, ABCB11, ABCB4) | Cholestase bei niedriger Gamma-GT (ATP8B1, ABCB11, ABCB4) | Molecular Diagnostics / PCR |
| Chromosomenstörungen (Chromosomen 13, 18 und 21, Geschlechtschromosomen X und Y) | Chromosomenstörungen (Chromosomen 13, 18 und 21, Geschlechtschromosomen X und Y) | Molecular Diagnostics / PCR |
| Defekte (ABCD3, ACOX2, AKR1D1, AMACR, CYP7B1, HSD3B7, VIPAS39, VPS33B) | Defekte (ABCD3, ACOX2, AKR1D1, AMACR, CYP7B1, HSD3B7, VIPAS39, VPS33B) | Molecular Diagnostics / PCR |
| Double Cortex | Double cortex | Molecular Diagnostics / PCR |
| Double cortex (DCX, LIS1, TUBA1A) | Double cortex (DCX, LIS1, TUBA1A) | Molecular Diagnostics / PCR |
| Dubin-Johnson-Syndrom (ABCC2) | Dubin-Johnson-Syndrom (ABCC2) | Molecular Diagnostics / PCR |
| Dysplasien (EDA, EDAR, WNT10A, EDARADD) | Dysplasien (EDA, EDAR, WNT10A, EDARADD) | Molecular Diagnostics / PCR |
| Ektodermale-Dysplasie (EDA, EDAR, EDARADD, TP63, WNT10A) | Ektodermale-Dysplasie (EDA, EDAR, EDARADD, TP63, WNT10A) | Molecular Diagnostics / PCR |
| Ellis-van Creveld Syndrom (EVC, EVC2) | Ellis-van Creveld Syndrom (EVC, EVC2) | Molecular Diagnostics / PCR |
| Enzephalopathie, akute, infektionsinduzierte | Enzephalopathie, akute, infektionsinduzierte | Molecular Diagnostics / PCR |
| FAT4 -assoziierte Erkrankungen (FAT4) | FAT4 -assoziierte Erkrankungen (FAT4) | Molecular Diagnostics / PCR |
| FGFR-assoziierte Kraniosynostosen (FGFR1, FGFR2, FGFR3) | FGFR-assoziierte Kraniosynostosen (FGFR1, FGFR2, FGFR3) | Molecular Diagnostics / PCR |
| FLNA-assoziierte Skelettdysplasien (FLNA) | FLNA-assoziierte Skelettdysplasien (FLNA) | Molecular Diagnostics / PCR |
| FLNB-assoziierte Skelettdysplasien (FLNB) | FLNB-assoziierte Skelettdysplasien (FLNB) | Molecular Diagnostics / PCR |
| FOXG1-assoziierte Enzephalopathie (FOXG1) | FOXG1-assoziierte Enzephalopathie (FOXG1) | Molecular Diagnostics / PCR |
| Familiäre Candidose, Typ 2 (CARD9) | Familiäre Candidose, Typ 2 (CARD9) | Molecular Diagnostics / PCR |
| Faziale Dysostosen/ Treacher- Collins-Syndrom (TCOF1, POLR1D, POLR1C, POLR1A, EFTUD2) | Faziale Dysostosen/ Treacher- Collins-Syndrom (TCOF1, POLR1D, POLR1C, POLR1A, EFTUD2) | Molecular Diagnostics / PCR |
| Frontotemporale Demenz mit Parkinsonismus (MAPT) | Frontotemporale Demenz mit Parkinsonismus (MAPT) | Molecular Diagnostics / PCR |
| GLI3-assoziierte Erkrankungen (GLI3) | GLI3-assoziierte Erkrankungen (GLI3) | Molecular Diagnostics / PCR |
| Gliedergürtelmuskeldystrophien (POMGnT1, POMT2, POMT1, Fukutin, FKRP, ISPD, POMK) | Gliedergürtelmuskeldystrophien (POMGnT1, POMT2, POMT1, Fukutin, FKRP, ISPD, POMK) | Molecular Diagnostics / PCR |
| Glucose-6-Phosphat- Dehydrogenase-Mangel (G6PD) | Glucose-6-Phosphat- Dehydrogenase-Mangel (G6PD) | Molecular Diagnostics / PCR |
| Gorlin-Golz-Syndrom/Basalzellnävus- Syndrom (PTCH1, PTCH2, SUFU) | Gorlin-Golz-Syndrom/Basalzellnävus- Syndrom (PTCH1, PTCH2, SUFU) | Molecular Diagnostics / PCR |
| Hereditäre spastische Paraplegie | Hereditäre spastische Paraplegie | Molecular Diagnostics / PCR |
| Heterotaxie assoziiert mit Hirnfehlbildungen (ZIC3, NODAL) | Heterotaxie assoziiert mit Hirnfehlbildungen (ZIC3, NODAL) | Molecular Diagnostics / PCR |
| Heterotopien (ARFGEF2, ERMARD, FLNA, NEDD4L, TUBA1A) | Heterotopien (ARFGEF2, ERMARD, FLNA, NEDD4L, TUBA1A) | Molecular Diagnostics / PCR |
| Heterotopien (FLNA, ARFGEF2, SHOC2) | Heterotopien (FLNA, ARFGEF2, SHOC2) | Molecular Diagnostics / PCR |
| Hirnentwicklungsstörung (TUBB3) | Hirnentwicklungsstörung (TUBB3) | Molecular Diagnostics / PCR |
| Holoprosenzephalie | Holoprosenzephalie | Molecular Diagnostics / PCR |
| Holoprosenzephalie-Spektrum (SHH, SIX3, ZIC2, TGIF, GLI2, PTCH1, HESX1, EMX2, NODAL) | Holoprosenzephalie-Spektrum (SHH, SIX3, ZIC2, TGIF, GLI2, PTCH1, HESX1, EMX2, NODAL) | Molecular Diagnostics / PCR |
| Hormonstörungen (LHCGR) | Hormonstörungen (LHCGR) | Molecular Diagnostics / PCR |
| Hydranenzephalie bzw. | Hydranenzephalie bzw. | Molecular Diagnostics / PCR |
| Hydranenzephalie-Hydrozephalie- Syndrom (Fowler-Syndrom) (FLVCR2) | Hydranenzephalie-Hydrozephalie- Syndrom (Fowler-Syndrom) (FLVCR2) | Molecular Diagnostics / PCR |
| Hydrozephalus (AP1S2, COL4A1, FKRP, FKTN, GRIN2B, ISPD, L1CAM, POMGnT1, POMT1, POMT2) | Hydrozephalus (AP1S2, COL4A1, FKRP, FKTN, GRIN2B, ISPD, L1CAM, POMGnT1, POMT1, POMT2) | Molecular Diagnostics / PCR |
| Hydrozephalus X-chromosomal (AP1S2, L1CAM, MTM1, OFD1, ZIC3) | Hydrozephalus X-chromosomal (AP1S2, L1CAM, MTM1, OFD1, ZIC3) | Molecular Diagnostics / PCR |
| Hypergonadotrope vorzeitige | Hypergonadotrope vorzeitige | Molecular Diagnostics / PCR |
| Hypochondroplasie (FGFR3) | Hypochondroplasie (FGFR3) | Molecular Diagnostics / PCR |
| Hypohidrotische ektodermale | Hypohidrotische ektodermale | Molecular Diagnostics / PCR |
| Hypopituitarismus (PROP1, GLI2, HESX1, OTX2, LHX3, GH1) | Hypopituitarismus (PROP1, GLI2, HESX1, OTX2, LHX3, GH1) | Molecular Diagnostics / PCR |
| Immundysregulation, Polyendokrinopathie und Enteropathie, X-chromosomal (FOXP3) | Immundysregulation, Polyendokrinopathie und Enteropathie, X-chromosomal (FOXP3) | Molecular Diagnostics / PCR |
| Infantile und neonatale Cholestase (ABCB11, ABCB4, ATP8B1, CLDN1, DCDC2, JAG1, SERPINA1, SLC25A13) | Infantile und neonatale Cholestase (ABCB11, ABCB4, ATP8B1, CLDN1, DCDC2, JAG1, SERPINA1, SLC25A13) | Molecular Diagnostics / PCR |
| KIF7-assoziierte Erkrankungen (KIF7) | KIF7-assoziierte Erkrankungen (KIF7) | Molecular Diagnostics / PCR |
| Kallmann-Syndrom (KAL1, FGFR1, PROK2, PROKR2, FGF8) | Kallmann-Syndrom (KAL1, FGFR1, PROK2, PROKR2, FGF8) | Molecular Diagnostics / PCR |
| Kalzifizierung, intrazerebrale (TREX1, OCLN) | Kalzifizierung, intrazerebrale (TREX1, OCLN) | Molecular Diagnostics / PCR |
| Kongenitale Gallensäure-Synthese | Kongenitale Gallensäure-Synthese | Molecular Diagnostics / PCR |
| Kopienzahlveränderungen (CNV) (Regionen laut MLPA-Kit) | Kopienzahlveränderungen (CNV) (Regionen laut MLPA-Kit) | Molecular Diagnostics / PCR |
| Kraniofrontonasale Dysplasie (EFNB1) | Kraniofrontonasale Dysplasie (EFNB1) | Molecular Diagnostics / PCR |
| LADD (FGFR2, FGFR3, FGF10) | LADD (FGFR2, FGFR3, FGF10) | Molecular Diagnostics / PCR |
| LAL-Defizienz (Mangel an lysosomaler saurer Lipase) (LIPA) | LAL-Defizienz (Mangel an lysosomaler saurer Lipase) (LIPA) | Molecular Diagnostics / PCR |
| LH/CG-Rezeptor-assoziierte | LH/CG-Rezeptor-assoziierte | Molecular Diagnostics / PCR |
| Leukenzephalopathie (EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5) | Leukenzephalopathie (EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5) | Molecular Diagnostics / PCR |
| Leukenzephalopathie mit Spheroiden (HDLS) (CSF1R) | Leukenzephalopathie mit Spheroiden (HDLS) (CSF1R) | Molecular Diagnostics / PCR |
| Leukenzephalopathie mit VWM (EIF2B5) | Leukenzephalopathie mit VWM (EIF2B5) | Molecular Diagnostics / PCR |
| Leukoencephalopathie mit subkorticalen Zysten (HEPACAM, MLC1, COL4A1) | Leukoencephalopathie mit subkorticalen Zysten (HEPACAM, MLC1, COL4A1) | Molecular Diagnostics / PCR |
| Lissenzephalie | Lissenzephalie | Molecular Diagnostics / PCR |
| Lissenzephalie Typ 1 (LIS1, DCX, TUBA1A, TUBG1, CASK, NDE1) | Lissenzephalie Typ 1 (LIS1, DCX, TUBA1A, TUBG1, CASK, NDE1) | Molecular Diagnostics / PCR |
| Lissenzephalie mit Kleinhirnhypoplasie (CASK, RELN, TUBA1A, TUBB2B, VLDLR) | Lissenzephalie mit Kleinhirnhypoplasie (CASK, RELN, TUBA1A, TUBB2B, VLDLR) | Molecular Diagnostics / PCR |
| Malformationen (CCM1, CCM2, CCM3) | Malformationen (CCM1, CCM2, CCM3) | Molecular Diagnostics / PCR |
| Malformationen (CCM2, KRIT1, PDCD10) | Malformationen (CCM2, KRIT1, PDCD10) | Molecular Diagnostics / PCR |
| Markeranalyse | STR-Markeranalyse | Molecular Diagnostics / PCR |
| Mentale Retardierung | Mentale Retardierung | Molecular Diagnostics / PCR |
| Metachromatische Leukodystrophie (ARSA) | Metachromatische Leukodystrophie (ARSA) | Molecular Diagnostics / PCR |
| Mikrotie (HOXA2) | Mikrotie (HOXA2) | Molecular Diagnostics / PCR |
| Mikrozephalie (ASPM, MCPH1, NBN, TUBA1A, TUBB2B, WDR62) | Mikrozephalie (ASPM, MCPH1, NBN, TUBA1A, TUBB2B, WDR62) | Molecular Diagnostics / PCR |
| Monogene Erkrankungen | Monogene Erkrankungen | Molecular Diagnostics / PCR |
| Morbus Wilson (ATP7B) | Morbus Wilson (ATP7B) | Molecular Diagnostics / PCR |
| Mukoviszidose (CFTR) | Mukoviszidose (CFTR) | Molecular Diagnostics / PCR |
| Ovarialinsuffizienz, vorzeitige und spontane ovarielle Ãœberstimulation in der Schwangerschaft (FSHR) | Ovarialinsuffizienz, vorzeitige und spontane ovarielle Ãœberstimulation in der Schwangerschaft (FSHR) | Molecular Diagnostics / PCR |
| P63-assoziierte Erkrankungen (p63) | P63-assoziierte Erkrankungen (p63) | Molecular Diagnostics / PCR |
| PPS (IRF6, GRHL3) | PPS (IRF6, GRHL3) | Molecular Diagnostics / PCR |
| Parkinson early onset (PARK2, PARK7, PINK1, SNCA) | Parkinson early onset (PARK2, PARK7, PINK1, SNCA) | Molecular Diagnostics / PCR |
| Parkinson klassisch (LRRK2, PARK2, PARK7, PINK1, SNCA, VPS35) | Parkinson klassisch (LRRK2, PARK2, PARK7, PINK1, SNCA, VPS35) | Molecular Diagnostics / PCR |
| Periventrikuläre noduläre | Periventrikuläre noduläre | Molecular Diagnostics / PCR |
| Pflasterstein-Lissenzephalie (FKRP, FKTN, GPR56, ISPD, LARGE, POMGnT1, POMT1, POMT2, TMEM5) | Pflasterstein-Lissenzephalie (FKRP, FKTN, GPR56, ISPD, LARGE, POMGnT1, POMT1, POMT2, TMEM5) | Molecular Diagnostics / PCR |
| Polydaktylie postaxial (DHCR7, EVC, EVC2, FGFR2, GLI3, OFD1) | Polydaktylie postaxial (DHCR7, EVC, EVC2, FGFR2, GLI3, OFD1) | Molecular Diagnostics / PCR |
| Polymikrogyrie (DYNC1H1, GPR56, POMGnT1, RAB18, RAB3GAP1, RAB3GAP2, TUBA1A, TUBB, TUBB2B, TUBB3, WDR62) | Polymikrogyrie (DYNC1H1, GPR56, POMGnT1, RAB18, RAB3GAP1, RAB3GAP2, TUBA1A, TUBB, TUBB2B, TUBB3, WDR62) | Molecular Diagnostics / PCR |
| Polymikrogyrie (GPR56, TUBB2B, SRPX2, TUBA8, TUBB(5)) | Polymikrogyrie (GPR56, TUBB2B, SRPX2, TUBA8, TUBB(5)) | Molecular Diagnostics / PCR |
| Pontozerebelläre Hypoplasie (B3GALNT1, CASK, DCX, EXOSC3, RARS2, RELN, SEPSECS, TSEN2, TSEN34, TSEN54, VRK1) | Pontozerebelläre Hypoplasie (B3GALNT1, CASK, DCX, EXOSC3, RARS2, RELN, SEPSECS, TSEN2, TSEN34, TSEN54, VRK1) | Molecular Diagnostics / PCR |
| Porenzephalie oder Megalencephale | Porenzephalie oder Megalencephale | Molecular Diagnostics / PCR |
| Primäre Mikrozephalie autosomal | Primäre Mikrozephalie autosomal | Molecular Diagnostics / PCR |
| Primäre Mikrozephalie, autosomal- rezessiv (ASPM, WDR62, MCPH1-7, PNKP, CDK6) | Primäre Mikrozephalie, autosomal- rezessiv (ASPM, WDR62, MCPH1-7, PNKP, CDK6) | Molecular Diagnostics / PCR |
| Progressive Familiäre | Progressive Familiäre | Molecular Diagnostics / PCR |
| SLC26A2-assoziierte | SLC26A2-assoziierte | Molecular Diagnostics / PCR |
| Saethre-Chotzen-Syndrom (TWIST, FGFR3) | Saethre-Chotzen-Syndrom (TWIST, FGFR3) | Molecular Diagnostics / PCR |
| Schilddrüsenhormonresistenz (THRB) | Schilddrüsenhormonresistenz (THRB) | Molecular Diagnostics / PCR |
| Schizenzephalie (SHH, SIX3, EMX2, WDR62, COL4A1) | Schizenzephalie (SHH, SIX3, EMX2, WDR62, COL4A1) | Molecular Diagnostics / PCR |
| Septooptische Dysplasie (CDON, DISP1, EMX2, FGF8, FGFR1, GLI2, HESX1, SHH, SIX3, TGIF1, ZIC2) | Septooptische Dysplasie (CDON, DISP1, EMX2, FGF8, FGFR1, GLI2, HESX1, SHH, SIX3, TGIF1, ZIC2) | Molecular Diagnostics / PCR |
| Simpson-Golabi-Behmel-Syndrom (GPC3, GPC4) | Simpson-Golabi-Behmel-Syndrom (GPC3, GPC4) | Molecular Diagnostics / PCR |
| Simpson-Golabi-Behmel-Syndrom (GPC3, GPC4, OFD1) | Simpson-Golabi-Behmel-Syndrom (GPC3, GPC4, OFD1) | Molecular Diagnostics / PCR |
| Skelettdysplasie fetal (COL1A1, COL1A2, COL2A1, EVC, EVC2, FGFR3) | Skelettdysplasie fetal (COL1A1, COL1A2, COL2A1, EVC, EVC2, FGFR3) | Molecular Diagnostics / PCR |
| Skelettdysplasien (SLC26A2) | Skelettdysplasien (SLC26A2) | Molecular Diagnostics / PCR |
| Spastische Ataxie (SACS) | Spastische Ataxie (SACS) | Molecular Diagnostics / PCR |
| Spastische Paraplegie (SPG4, SPG3A, SPG31) | Spastische Paraplegie (SPG4, SPG3A, SPG31) | Molecular Diagnostics / PCR |
| Spastische Paraplegie, autosomal- rezessiv (SPG7, SPG20, CYP7B1, SPG11, SPG15, SPG14, SPG21, SPG26) | Spastische Paraplegie, autosomal- rezessiv (SPG7, SPG20, CYP7B1, SPG11, SPG15, SPG14, SPG21, SPG26) | Molecular Diagnostics / PCR |
| Steatosis Hepatis im Kindesalter (ALDOA, ALDOB, ALMS1, ATP7B, LIPA, SLC25A13) | Steatosis Hepatis im Kindesalter (ALDOA, ALDOB, ALMS1, ATP7B, LIPA, SLC25A13) | Molecular Diagnostics / PCR |
| Surfactant-Dysfunktion, pulmonale (ABCA3, STFPB, SFTPC, CSF2RA) | Surfactant-Dysfunktion, pulmonale (ABCA3, STFPB, SFTPC, CSF2RA) | Molecular Diagnostics / PCR |
| TCTN3-assoziiertes Oro-fazio- digitales Syndrom IV | TCTN3-assoziiertes Oro-fazio- digitales Syndrom IV | Molecular Diagnostics / PCR |
| TUBB3-assoziierte komplexe | TUBB3-assoziierte komplexe | Molecular Diagnostics / PCR |
| Thanatophore Dysplasie (FGFR3) | Thanatophore Dysplasie (FGFR3) | Molecular Diagnostics / PCR |
| Treacher-Collins-Franceschetti- Syndrom (TCOF1, POLR1C, POLR1D, EFTUD2) | Treacher-Collins-Franceschetti- Syndrom (TCOF1, POLR1C, POLR1D, EFTUD2) | Molecular Diagnostics / PCR |
| Trimethylaminurie (FMO3) | Trimethylaminurie (FMO3) | Molecular Diagnostics / PCR |
| Tubulinopathien (GRIN2B, TUBA1A, TUBB, TUBB2B, TUBB3, TUBG1) | Tubulinopathien (GRIN2B, TUBA1A, TUBB, TUBB2B, TUBB3, TUBG1) | Molecular Diagnostics / PCR |
| Van der Woude-Syndrom = VWS/ Popliteale Pterygium-Syndrom = | Van der Woude-Syndrom = VWS/ Popliteale Pterygium-Syndrom = | Molecular Diagnostics / PCR |
| Walker-Warburg-Syndrom (B3GNT1, COL4A1, DAG1, FKRP, FKTN, ISPD, LARGE, POMGNT2, POMGnT1, POMK, POMT1, POMT2, TMEM5) | Walker-Warburg-Syndrom (B3GNT1, COL4A1, DAG1, FKRP, FKTN, ISPD, LARGE, POMGNT2, POMGnT1, POMK, POMT1, POMT2, TMEM5) | Molecular Diagnostics / PCR |
| X-chromosomal mit Kleinhirnhypoplasie (OPHN1) | X-chromosomal mit Kleinhirnhypoplasie (OPHN1) | Molecular Diagnostics / PCR |
| X-chromosomaler Hydrozephalus (L1CAM) | X-chromosomaler Hydrozephalus (L1CAM) | Molecular Diagnostics / PCR |
| Zerebrale kavernöse | Zerebrale kavernöse | Molecular Diagnostics / PCR |
| autosomal-dominant (ATL1, BSCL2, HSPD1, KIAA0196, NIPA1, REEP1, SLC33A1, SPAST, ZFYVE27) | autosomal-dominant (ATL1, BSCL2, HSPD1, KIAA0196, NIPA1, REEP1, SLC33A1, SPAST, ZFYVE27) | Molecular Diagnostics / PCR |
| autosomal-dominant vererbte | autosomal-dominant vererbte | Molecular Diagnostics / PCR |
| autosomal-rezessiv (CYP7B1, SPG11, SPG7, ZFYVE26) | autosomal-rezessiv (CYP7B1, SPG11, SPG7, ZFYVE26) | Molecular Diagnostics / PCR |
| callosum (CREBBP, DCC, POMGnT1, POMT1, POMT2, SHH, SIX3, TUBA1A, TUBB2B) | callosum (CREBBP, DCC, POMGnT1, POMT1, POMT2, SHH, SIX3, TUBA1A, TUBB2B) | Molecular Diagnostics / PCR |
| congenitale Muskeldystrophien (POMT1, POMT2, POMGnT1, POMK, Fukutin, FKRP, LARGE, ISPD, DAG1, COL4A1, GTDC2, TMEM5, B3GNT1) | congenitale Muskeldystrophien (POMT1, POMT2, POMGnT1, POMK, Fukutin, FKRP, LARGE, ISPD, DAG1, COL4A1, GTDC2, TMEM5, B3GNT1) | Molecular Diagnostics / PCR |
| erbliche diffuse | erbliche diffuse | Molecular Diagnostics / PCR |
| familiäre intrahepatische | familiäre intrahepatische | Molecular Diagnostics / PCR |
| intrahepatische Cholestase (Typ 1, 2, 3, 4 und 5), BRIC, Schwangerschaftscholestase und Hypercholanämie | intrahepatische Cholestase (Typ 1, 2, 3, 4 und 5), BRIC, Schwangerschaftscholestase und Hypercholanämie | Molecular Diagnostics / PCR |
| kortikale Mikrationsstörungen (DYNC1H1, GRIN2B, PAFAH1B1, POMGnt1, TUBA1A, TUBB2B) | kortikale Mikrationsstörungen (DYNC1H1, GRIN2B, PAFAH1B1, POMGnt1, TUBA1A, TUBB2B) | Molecular Diagnostics / PCR |
| linked | linked | Molecular Diagnostics / PCR |
| nekrotisierende (RANBP2) | nekrotisierende (RANBP2) | Molecular Diagnostics / PCR |
| numerische | numerische | Molecular Diagnostics / PCR |
| rezessiv (ASPM, CENPJ, MCPH1, STIL, WDR62) | rezessiv (ASPM, CENPJ, MCPH1, STIL, WDR62) | Molecular Diagnostics / PCR |
| sporadisch (ATL1, CYP7B1, KIF5A, REEP1, SPAST, SPG11, SPG7, ZFYVE26) | sporadisch (ATL1, CYP7B1, KIF5A, REEP1, SPAST, SPG11, SPG7, ZFYVE26) | Molecular Diagnostics / PCR |
| DCX, ISPD, PAFAH1B1, POMGNT2, TUBA1A, TUBB, TUBB2B, TUBG1) | DCX, ISPD, PAFAH1B1, POMGNT2, TUBA1A, TUBB, TUBB2B, TUBG1) | Other |
| DISP1, FGF8, FGFR1, GLI2, SHH, SIX3, SUFU, TGIF1, ZIC2) | DISP1, FGF8, FGFR1, GLI2, SHH, SIX3, SUFU, TGIF1, ZIC2) | Other |
| PAFAH1B1, ARX, TUBA1A, TUBB2B, TUBG1, DYNC1H1) | PAFAH1B1, ARX, TUBA1A, TUBB2B, TUBG1, DYNC1H1) | Other |
| PLP1, SLC16A2) | PLP1, SLC16A2) | Other |
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