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132 Result(s)

List of diseases tested (255)

3-methylglutaconic aciduria type 3
ADULT syndrome
APC-related attenuated familial adenomatous polyposis
Achondrogenesis type 1B
Achondroplasia
Achromatopsia
Adult-onset foveomacular vitelliform dystrophy
Alobar holoprosencephaly
Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
Androgen insensitivity syndrome
Aneurysm-osteoarthritis syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Anophthalmia/microphthalmia-esophageal atresia syndrome
Antley-Bixler syndrome
Apert syndrome
Aplasia of lacrimal and salivary glands
Atelosteogenesis type I
Atelosteogenesis type II
Atelosteogenesis type III
Atypical Rett syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy, classic form
Autosomal dominant popliteal pterygium syndrome
Autosomal dominant spastic paraplegia type 3
Autosomal dominant spastic paraplegia type 31
Autosomal dominant spastic paraplegia type 4
Autosomal dominant vitreoretinochoroidopathy
Autosomal recessive bestrophinopathy
Autosomal recessive hypohidrotic ectodermal dysplasia
Autosomal recessive isolated optic atrophy
Autosomal recessive optic atrophy, OPA7 type
Autosomal recessive primary microcephaly
Autosomal recessive spastic paraplegia type 11
Autosomal recessive spastic paraplegia type 14
Autosomal recessive spastic paraplegia type 15
Autosomal recessive spastic paraplegia type 20
Autosomal recessive spastic paraplegia type 21
Autosomal recessive spastic paraplegia type 26
Autosomal recessive spastic paraplegia type 55
Autosomal recessive spastic paraplegia type 5A
BOR syndrome
Bannayan-Riley-Ruvalcaba syndrome
Bardet-Biedl syndrome
Benign recurrent intrahepatic cholestasis type 1
Benign recurrent intrahepatic cholestasis type 2
Best vitelliform macular dystrophy
Bietti crystalline dystrophy
Bilateral frontoparietal polymicrogyria
Boomerang dysplasia
Branchio-oculo-facial syndrome
Branchiootic syndrome
Butterfly-shaped pigment dystrophy
COL4A1-related familial vascular leukoencephalopathy
Central areolar choroidal dystrophy
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Choroideremia
Chronic respiratory distress with surfactant metabolism deficiency
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Coats disease
Combined oxidative phosphorylation defect type 7
Combined pituitary hormone deficiencies, genetic forms
Cone dystrophy with supernormal rod response
Cone rod dystrophy
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital intrauterine infection-like syndrome
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy without intellectual disability
Congenital stationary night blindness
Corpus callosum agenesis-abnormal genitalia syndrome
Corpus callosum agenesis-neuronopathy syndrome
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Cowden syndrome
Craniofrontonasal dysplasia
Crouzon disease
Currarino syndrome
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Cystic fibrosis
Diastrophic dwarfism
EEC syndrome
EEM syndrome
Early infantile epileptic encephalopathy
Ellis Van Creveld syndrome
FGFR2-related bent bone dysplasia
FKRP-related limb-girdle muscular dystrophy R9
Familial acute necrotizing encephalopathy
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial aortic dissection
Familial cerebral cavernous malformation
Familial colorectal cancer Type X
Familial drusen
Familial exudative vitreoretinopathy
Familial male-limited precocious puberty
Familial melanoma
Familial porencephaly
Familial thoracic aortic aneurysm and aortic dissection
Fowler vasculopaty
Frontometaphyseal dysplasia
Frontotemporal dementia
Fukutin-related limb-girdle muscular dystrophy R13
Fundus albipunctatus
Gardner syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Gorlin syndrome
Greig cephalopolysyndactyly syndrome
Hereditary ATTR amyloidosis
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary mixed polyposis syndrome
Hypochondroplasia
Hypotrichosis with juvenile macular degeneration
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Infant acute respiratory distress syndrome
Infantile cerebellar-retinal degeneration
Infantile epileptic-dyskinetic encephalopathy
Inherited retinal disorder
Interstitial lung disease due to ABCA3 deficiency
Interstitial lung disease due to SP-C deficiency
Intrahepatic cholestasis of pregnancy
Isolated cloverleaf skull syndrome
Isolated congenital hypogonadotropic hypogonadism
Isolated trigonocephaly
Jackson-Weiss syndrome
Juvenile polyposis of infancy
Kallmann syndrome
Kennedy disease
L1 syndrome
Lacrimoauriculodentodigital syndrome
Larsen syndrome
Late-onset retinal degeneration
Leber congenital amaurosis
Leydig cell hypoplasia due to complete LH resistance
Leydig cell hypoplasia due to partial LH resistance
Li-Fraumeni syndrome
Limb-mammary syndrome
Lissencephaly due to LIS1 mutation
Lissencephaly due to TUBA1A mutation
Lissencephaly type 1 due to doublecortin gene mutation
Lobar holoprosencephaly
Loeys-Dietz syndrome
Low phospholipid-associated cholelithiasis
Lynch syndrome
MRCS syndrome
MUTYH-related attenuated familial adenomatous polyposis
Mandibuloacral dysplasia with type B lipodystrophy
Mandibulofacial dysostosis-microcephaly syndrome
Marfan syndrome type 1
Marfan syndrome type 2
Martinique crinkled retinal pigment epitheliopathy
Melnick-Needles syndrome
Metachromatic leukodystrophy
Microlissencephaly
Midline interhemispheric variant of holoprosencephaly
Miller-Dieker syndrome
Mohr-Tranebjaerg syndrome
Muenke syndrome
Muir-Torre syndrome
Multifocal pattern dystrophy simulating fundus flavimaculatus
Multiple epiphyseal dysplasia type 4
Multisystemic smooth muscle dysfunction syndrome
Muscle-eye-brain disease
NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency
NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
NON RARE IN EUROPE: Primary ovarian failure
NON RARE IN EUROPE: Trimethylaminuria
Nager syndrome
Neonatal Marfan syndrome
Neonatal acute respiratory distress due to SP-B deficiency
Norrie disease
Occult macular dystrophy
Odonto-onycho-dermal dysplasia
Optic atrophy-intellectual disability syndrome
Orofaciodigital syndrome type 4
Orofaciodigital syndrome type 6
Osteoglosphonic dysplasia
Otofaciocervical syndrome
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Ovarian hyperstimulation syndrome
POMGNT1-related limb-girdle muscular dystrophy R15
POMT1-related limb-girdle muscular dystrophy R11
POMT2-related limb-girdle muscular dystrophy R14
Pallister-Hall syndrome
Partington syndrome
Periventricular nodular heterotopia
Persistent hyperplastic primary vitreous
Peutz-Jeghers syndrome
Pfeiffer syndrome
Polymerase proofreading-related adenomatous polyposis
Polymicrogyria due to TUBB2B mutation
Polymicrogyria with optic nerve hypoplasia
Polysyndactyly
Postaxial acrofacial dysostosis
Postaxial polydactyly type A
Postaxial polydactyly type B
Primary ciliary dyskinesia-retinitis pigmentosa syndrome
Primary failure of tooth eruption
Progressive cone dystrophy
Progressive familial intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 3
Progressive supranuclear palsy
Rare genetic disease
Rare neurodegenerative disease
Retinal macular dystrophy type 2
Retinitis pigmentosa
Retinitis punctata albescens
Rolandic epilepsy-speech dyspraxia syndrome
Saethre-Chotzen syndrome
Schizencephaly
Schöpf-Schulz-Passarge syndrome
Semilobar holoprosencephaly
Septo-optic dysplasia spectrum
Septopreoptic holoprosencephaly
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Short stature-optic atrophy-Pelger-Huët anomaly syndrome
Simpson-Golabi-Behmel syndrome
Situs ambiguus
Situs inversus totalis
Sorsby pseudoinflammatory fundus dystrophy
Spastic paraplegia type 7
Spondylocarpotarsal synostosis
Stargardt disease
Subcortical band heterotopia
Syndromic microphthalmia type 5
Terminal osseous dysplasia-pigmentary defects syndrome
Tessier number 7 facial cleft
Thanatophoric dysplasia
Treacher-Collins syndrome
Tubulinopathy-associated dysgyria
Turcot syndrome with polyposis
Usher syndrome type 1
Usher syndrome type 2
Usher syndrome type 3
Van der Woude syndrome
Vascular Ehlers-Danlos syndrome
Von Hippel-Lindau disease
Walker-Warburg syndrome
West syndrome
Wilson disease
Wolfram syndrome
Wolfram-like syndrome
X-linked hypohidrotic ectodermal dysplasia
X-linked intellectual disability-cerebellar hypoplasia syndrome
X-linked lissencephaly with abnormal genitalia
X-linked retinoschisis
X-linked spasticity-intellectual disability-epilepsy syndrome
Xeroderma pigmentosum
Xeroderma pigmentosum variant
Xeroderma pigmentosum-Cockayne syndrome complex
Åland Islands eye disease

List of genes tested (including panels) (346)

ABCA3
ABCA4
ABCB11
ABCB4
ABHD12
ACO2
ACTA2
ADAM9
ADGRA3
ADGRG1
ADGRV1
AGBL5
AIPL1
ALMS1
ANOS1
APC
AR
ARFGEF2
ARHGEF18
ARL2BP
ARL3
ARL6
ARSA
ARX
ASPM
ASXL3
ATF6
ATL1
ATM
ATP7B
ATP8B1
B4GALNT1
B4GAT1
BBS1
BBS2
BEST1
BMPR1A
BRCA1
BRCA2
BRIP1
C12ORF65
C1QTNF5
C8ORF37
CA4
CABP4
CACNA1F
CACNA2D4
CCM2
CDH1
CDH16
CDH23
CDH3
CDHR1
CDK5RAP2
CDKN2A
CENPJ
CEP152
CEP250
CEP290
CEP78
CERKL
CFAP410
CFTR
CHEK2
CHM
CIB2
CISD2
CLRN1
CLUAP1
CNGA1
CNGA3
CNGB1
CNGB3
CNNM4
COL3A1
COL4A1
COL4A2
CRB1
CRPPA
CRX
CSF2RA
CTNNA1
CTNNB1
CWC27
CYP11B1
CYP21A2
CYP4V2
CYP7B1
DAG1
DCX
DDB1
DDB2
DHDDS
DHODH
DHX38
DRAM2
DTHD1
EDA
EDAR
EFEMP1
EFNB1
EFTUD2
ELOVL4
EMC1
EMX2
ERCC2
ERCC3
ERCC4
ERCC5
EVC
EVC2
EYA1
EYS
FAM161A
FBN1
FGF10
FGFR1
FGFR2
FGFR3
FKRP
FKTN
FLNA
FLNB
FLVCR2
FMO3
FOXG1
FOXP3
FSHR
FZD4
G6PD
GDF6
GLI2
GLI3
GNAT1
GNAT2
GPC3
GPR179
GRK1
GRM6
GUCA1A
GUCA1B
GUCY2D
HARS1
HESX1
HGSNAT
HK1
HSD3B2
IDH3B
IFT140
IFT172
IMPDH1
IMPG1
IMPG2
IQCB1
IRF6
KCNJ13
KCNV2
KIAA1549
KIF11
KIZ
KLHL7
KRIT1
L1CAM
LARGE1
LCA5
LHCGR
LRAT
LRIT3
LRP5
MAK
MAPKAPK3
MAPT
MCPH1
MERTK
MFN2
MFSD8
MLH1
MNX1
MSH2
MSH6
MTPAP
MUTYH
MVK
MYH11
MYLK
MYO7A
NAALADL1
NBAS
NBN
NDP
NEK2
NEUROD1
NMNAT1
NODAL
NOTCH3
NR2E3
NR2F1
NRL
NYX
OAT
OCLN
OPA1
OPA3
OPHN1
OTX2
PAFAH1B1
PALB2
PCARE
PCDH15
PDCD10
PDE6A
PDE6B
PDE6C
PDE6G
PDE6H
PITPNM3
PMS2
PNKP
POC1B
POLD1
POLE
POLH
POLR1C
POLR1D
POMGNT1
POMGNT2
POMK
POMT1
POMT2
POR
PRCD
PRDM13
PROK2
PROKR2
PROM1
PROP1
PRPF3
PRPF31
PRPF4
PRPF6
PRPF8
PRPH2
PTCH1
PTCH2
PTEN
PTH1R
RAB28
RAD51C
RAD51D
RANBP2
RAX2
RBP3
RCBTB1
RD3
RDH12
RDH5
REEP1
REEP6
RELN
RGR
RHO
RIMS1
RLBP1
ROM1
RP1
RP1L1
RP2
RP9
RPE65
RPGR
RPGRIP1
RS1
RTN4IP1
RXYLT1
SAG
SAMD11
SEMA4A
SF3B4
SFTPB
SFTPC
SHH
SIX1
SIX3
SIX5
SLC12A6
SLC25A46
SLC26A2
SLC2A1
SLC7A14
SMAD3
SMAD4
SNRNP200
SOX2
SPART
SPAST
SPATA7
SPG11
SPG14
SPG21
SPG7
SPP2
SRPX2
STIL
STK11
TCOF1
TCTN3
TFAP2A
TGFB2
TGFBR1
TGFBR2
TGIF1
TIMM8A
TIMP3
TMEM126A
TOPORS
TP53
TP63
TRNT1
TRPM1
TSPAN12
TTC8
TTLL5
TTR
TUBA1A
TUBA8
TUBB2B
TUBB3
TULP1
TWIST1
UNC119
USH1C
USH1G
USH2A
VHL
WDR62
WFS1
WHRN
WNT10A
XPA
XPC
ZFYVE26
ZIC2
ZIC3
ZMPSTE24
ZNF408
ZNF513
By clicking on the links above you will be redirected to the corresponding disease or gene page

Diagnostic test(s) performed in the laboratory (132)

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Treacher-Collins syndrome (POLR1C, POLR1D genes: sequencing, TCOF1 gene: sequencing / MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of holoprosencephaly (NGS panel holoprosencephaly, 7 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of congenital adrenal hyperplasia (CYP21A2 gene: sequencing / MLPA; CYP11B1, HSD3B2, POR genes: sequencing)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of premature ovarian failure (FSHR gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of glucose-6-phosphate-dehydrogenase deficiency
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of cystic fibrosis (CFTR gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of trimethylaminuria
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of predisposition to breast and ovarian cancer (NGS screening panel: 11 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of PRPH2 gene-associated eye diseases
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Stargardt disease (ABCA4, CNGB3, ELOVL4, PROM1 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of X-linked retinoschisis (RS1 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Cowden syndrome (PTEN gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of familial nonpolyposis colon cancer (MLH1, MSH2, MSH6, PMS2 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of amaurosis congenita of Leber (NGS screening panel: 27 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Li-Fraumeni syndrome (TP53 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of familial malignant melanoma (CDKN2A gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of hereditary colon carcinoma with polyposis (NGS screening panel: 9 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of retinitis pigmentosa (NGS screening panel: 91 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Sorsby's fundus dystrophy (TIMP3 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Doyne honeycomb retinal dystrophy (EFEMP1 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of juvenile macular degeneration and hypotrichosis (CDH3 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of choroideremia (CHM gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Saethre-Chotzen syndrome (FGFR3 gene: Pro250Arg, TWIST gene: sequencing, MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2I, 2K, 2M, 2N, 2O, 2P (DAG1, FKRP, FKTN, POMT1, POMT2, POMGNT1 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of congenital muscular dystrophy with cerebellar involvement (FKRP, POMGNT1, POMT1, POMT2 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of muscle eye brain disease (FKRP, FKTN, LARGE, POMGNT1, POMT1, POMT2 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of ADULT syndrome (TP63)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Popliteal pterygium syndrome (IRF6 gene: sequencing / MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Van der Woude syndrome (IRF6 gene: sequencing / MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of ectodermal dysplasia (EDA, EDAR, TP63 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of androgen insensitivity (AR gene: sequencing, MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Kallmann syndrome type 1 and 2 (ANOS1, FGFR1, PROK2, PROKR2 genes: sequencing, MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of ovarian hyperstimulation syndrome (FSHR gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Andermann syndrome (SLC12A6 gene: sequencing, linkage analysis)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of cerebral cavernous malformations (CCM2, KRIT1, PDCD10 genes: sequencing / MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of lissencephaly (ARX, DCX, PAFAH1B1, TUBA1A genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of ARX gene-associated diseases (West syndrome, PROUD syndrome, XLAG, MRXARX, PRTS)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of muscle eye brain disease (FKRP, POMGNT1 genes: sequencing, MLPA, linkage analysis)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of hereditary nodular heterotopia (FLNA and ARFGEF2 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of bilateral frontoparietal polymicrogyria (GPR56 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of septooptic dysplasia (HESX1 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Walker-Warburg syndrome (B3GNT1, COL4A1, FKRP, FKTN, ISPD, LARGE, POMT1, POMT2, POMGNT1, POMGNT2, POMK, TMEM5 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Norman-Roberts lissencephaly syndrome (RELN gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of spinal and bulbar muscular atrophy of Kennedy (AR gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of spastic paraplegia (ATL1, B4GALNT1, CYP7B1, REEP1, SPAST, SPG7, SPG11, SPG14, SPG20, SPG21, ZFYVE26 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of achondroplasia (FGFR3 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of BOR syndrome (EYA1, SIX1 and SIX5 genes: sequencing / MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of FLNA-associated bone dysplasia (FLNA gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of hypochondroplasia (FGFR3 gene: partial sequencing)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of thanatophoric dwarfism (FGFR3 gene: partial sequencing)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of craniosynostosis syndromes (FGFR1, FGFR2 and FGFR3 genes: partial sequencing)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of gyrate atrophy of choroid and retina (OAT gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of achromatopsia (NGS screening panel: 6 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Bietti's crystalline dystrophy (CYP4V2 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Norrie disease (NDP gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of optic atrophy (NGS screening panel: 14 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of congenital stationary night blindness (NGS screening panel: 14 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of BEST1 gene-associated eye diseases
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of EEM syndrome (CDH3 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Fundus albipunctatus (PRPH2, RDH5, RLBP1 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Retinitis punctata albescens (PRPH2, RDH5, RHO, RLBP1 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of cone rod dystrophy (NGS screening panel: 34 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of primary failure of tooth eruption (PTH1R gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of exudative vitreoretinopathy (NGS screening panel: 8 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of respiratory distress due to surfactant deficiency (ABCA3, CSF2RA, SFTPB, SFTPC genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of low phospholipid-associated cholelithiasis (ABCB4 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of intrahepatic cholestasis (ABCB4, ABCB11, ATP8B1 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of metachromatic leukodystrophy (ARSA gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of isolated microcephaly (ASPM, CENPJ, CEP152, CDK5RAP2, MCPH1, STIL, WDR62 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of craniofrontonasal dysplasia (EFNB1 gene: sequencing, MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of schizencephaly (COL4A1, EMX2, SHH, SIX3 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Ellis van Creveld syndrome (EVC and EVC2 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of gonadotropin-independent precocious puberty (LHCGR gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Leydig cell hypoplasia (LHCGR gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of progressive supranuclear palsy type 1 (MAPT gene: sequencing, MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of frontotemporal lobe dementia (MAPT gene: sequencing, MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of LADD syndrome (FGFR2, FGFR3, FGF10 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of ALSG syndrome (FGF10 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of FLNB gene-associated diseases (Larsen syndrome, Boomerang dysplasia, synspondylism, atelosteogenesis)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Fowler syndrome (FLVCR2 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of atypical Rett syndrome (FOXG1 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of IPEX (FOXP3 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of GLI3-gene associated syndromes (sequencing/ MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Simpson Golabi Behmel syndrome (GPC3 gene: sequencing / MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of L1 syndrome (L1CAM gene: sequencing, MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of visceral heterotaxy type 5 (NODAL gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of CADASIL (NOTCH3 gene: sequencing, MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Pseudo-TORCH syndrome (OCLN gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of X-linked mental retardation with cerebellar hypoplasia (OPHN1 gene: sequencing, MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of P450 oxidoreductase deficiency (POR gene: sequencing)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of isolated congenital hypogonadotropic hypogonadism (FGFR1, PROK2, PROKR2 genes: sequencing, MLPA
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Gorlin syndrome (PTCH1 gene: sequencing, MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of familial acute necrotizing encephalopathy (RANBP2 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Branchio-otic syndrome (SIX1 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of SLC26A2 gene associated diseases
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Rolandic epilepsy with speech dyspraxia (SRPX2 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of branchio-oculo-facial syndrome (TFAP2A gene: sequencing, MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of polymicrogyria with optic nerve hypoplasia (TUBA8 gene: sequencing)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of bilateral frontal polymicrogyria (TUBB2B gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of otofaciocervical syndrome (EYA1 gene: sequencing, MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of complex cortical dysplasia with other brain malformations (TUBB3 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of syndromic microphthalmia type 5 (OTX2 gene: sequencing, MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of syndromic microphthalmia type 3 (SOX2 gene: sequencing, MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of autosomal recessive primary microcephaly 1-7 (ASPM, WDR62, MCPH1 genes: sequencing, loci: MCPH1, MCPH2, MCPH3, MCPH4, MCPH5, MCPH6, MCPH7 linkage analysis)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of familial porencephaly (COL4A1 and COL4A2 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Wilson disease (ATP7B-gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of brain small vessel disease with hemorrage (COL4A1 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Bainbridge-Roppers syndrome (ASXL3 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of X-linked heterotaxy (ZIC3 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Baraitser-Burn syndrome (TCTN3 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Joubert syndrome 18 (TCTN3 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of commissural facial cleft (PTCH2 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of combined pituitary hormone deficiency (HESX1, PROP1, OTX2 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Nager syndrome (SF3B4 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Currarino syndrome (MNX1 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of nmandibulofacial dysostosis-microcephaly syndrome (EFTUD2 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Miller syndrome (DHODH gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of early infantile epileptic encephalopathy 10 (PNKP gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of odontoonychodermal dysplasia (WNT10A gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Schopf-Schulz-Passarge syndrome (WNT10A gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of transthyretin-related amyloidosis (TTR gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of subcortical band heterotopia (DCX, PAFAH1B1 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of tubulinopathy-associated dysgyria (TUBA1A, TUBB2B, TUBB3 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of congenital muscular dystrophy with intellectual disability (FKRP, LARGE1, POMT1, POMT2 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of congenital muscular dystrophy without intellectual disability (FKRP, ISPD,FKRP, FKTN, POMT1 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of macular dystrophy (NGS screening panel: 21 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Usher Syndrome (NGS screening panel: 13 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Xeroderma pigmentosum (NGS screening panel: 9 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of thoracic aortic aneurysm and aortic dissection (NGS screening panel: 9 genes)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)