Praxis für Humangenetik Freiburg - Prof. Kohlhase

Welcome to our homepage. We offer a range of molecular genetic tests. Please see our current request form for details. Please visit also our entry at http://www.genetests.org Table (request form may show more tests) GEN(E) ALPHABETICAL SYNDROME (DISEASE) ACTA2 Aortic aneurysm, thoracic familial AGL Glykogene stroage disease 3 AGS2, AGS3, AGS4, TREX1 (AGS1), SAMHD1 (AGS5) Aicardi-Goutières syndrome APC, MUTYH Fam. Adenomat. Polyposis coli APP Presenile dementia (Alzheimer type) ARSA, PSAP Metachromat. leukodystrophy ARSB Mukopolysaccharidosis 6 ARX epilepsy, XLAG syndrome ATP1A2 familial hemiplegic migraine AVPR2, AQP2 Diabetes insipidus renalis AZF1 Azoospermia, Yq11 microdel. B3GALTL Peters Plus syndrome BCKDHA ,BCKDHB, DBT, DLD Maple syrup urine disease (MSUD) BRAF, MEK1, MEK2, KRAS Cardio-Facio-Cutaneous syndrome (CFC) BRCA1, BRCA2 Breast and ovarian cancer, familial CACNA1A familial hemiplegic migraine CDH1 (ECAD) Gastric cancer, familial CDKL5 Epilepsy, atyp. Rett syndrome CDKN2A, CDK4 Maligne melanoma, familial CFTR Cystic Fibrosis, CBAVD/CUAVD CHD7 CHARGE syndrome, Kallmann syndrome CHN1 Duane anomaly, isolated CHRNA2, CHRNA4, CHRNB2 Frontal lobe epilepsy COL3A1 Ehlers-Danlos syndrome type 4 (vascular) COL4A1 Porenzephaly, stroke (early manifesting) COL4A3, COL4A4 Alport syndrome, autosomal recessive COL4A5 Alport syndrome, X-linked COL5A1, COL5A2 Ehlers-Danlos syndrome Type 1/2 COL7A1 Epidermolysis bullosa dystrophica COL17A1 Epidermolysis bullosa junctionalis CREBBP, EP300 Rubinstein-Taybi syndrome CTSK Pyknodysostosis (Kathepsin K-Deficiency) CX26 (GJB2) Deafness, recessive; Keratitis-Ichtyosis-deafness syn. CYP21A2, CYP11B1, HSD3B2 Congenital adrenal hyperplasia DCX, LIS1, TUBA1A, ARX Lissenzephaly DMD Duchenne-Becker muscular dystrophy DNASE1, TREX1 System. Lupus Erythematosus (SLE) EDA (ED1), EDARADD, EDAR Ektodermal dysplasia EMX2 Schizenzephaly FAM58A STAR syndrome FBN1, TGFBR1+2, ACTA2, MYH11 Marfan syndrome FGFR1 (KAL2) Kallmann-, Antley-Bixler-, Jackson-Weiss-, Pfeiffer syndromes FKRP Congenital muscular dystrophy Typ 1C, Limb-Girdle Muscular Dystrophy 2I FLG Ichthyosis vulgaris FOXC1, PITX2 (Axenfeld)-Rieger syndrome, Iridogoniodysgenesis, Peters syndrome FOXG1 atyp. Rett syndrome FOXP2 verbal dyspraxia GABRG2, GABRD, SCN1B, SCN1A, SCN2A epilepsy, generalised, with febrile seizures GALC, PSAP Krabbe disease GALNS Mucopolysaccharidosis 4A GATA4, NKX2-5 Congenital heart defect, Atrial septal defect GBE1 Glycogen storage disease 4 GJA1 (Cx43) Oculodentodigital Dysplasia (ODDD) GLA Fabry disease GLB1 Mucopolysaccharidosis 4B GLI3 Greig syndrome, Pallister-Hall syndrome GNPTAB Mucolipidosis 2+3 GNS Mucopolysaccharidosis 3D HESX1 Septo-Optical Dysplasia HGSNAT (TMEM76) Mucopolysaccharidosis 3C HOXA1 brainstem dysgenesis HRAS Costello syndrome HSPG2, LIFR Schwartz-Jampel syndrome types 1 and 2 IDS Mucopolysaccharidosis 2 IDUA Mucopolysaccharidosis 1 (Hurler/Scheie) INSR insulinres. diab. mell.; Donohue synd.; HHF5 ITGB4, ITGA6 Epidermolysis bullosa junct. with pyloric atresia KAL1, KAL2, KAL3, KAL4, CHD7 Kallmann syndrome KCNV2 Cone dystrophy KIF21A CFEOM1 KIND1 Kindler syndrome KRAS CFC-/ Noonan syndrome, Colon cancer (somatic mutations) KRT5, KRT14 Epidermolysis bullosa simplex LAMB3, LAMA3, LAMC2, COL17A1 Epidermolysis bullosa junctionalis LIFR, HSPG2 Schwartz-Jampel syndrome types 1+2 LIS1, DCX, TUBA1A, ARX Lissenzephaly LMNA Muscular dystrophy, Progeria LMNB1 Leukodystrophy, dominant LMX1B Nail-Patella syndrome MAPT (TAU), PGRN Frontotemporal dementia MECP2 Rett-Syndrom, Xq28 duplication MED12, UPF3B FG syndrome, Lujan-Fryns syndrome MEK1, MEK2, BRAF, KRAS Cardio-Facio-Cutaneous syndrome MET Renal carcinoma, papillary MLH1, MSH2, MSH6, PMS2 Colon carcinoma (HNPCC) MSX2 Parietale Foramina 1; Craniosynostosis 2 MUTYH (MYH) Polyposis coli, Colon carcinoma MYCN Feingold syndrome NAGLU Mucopolysaccharidosis 3B NF1, SPRED1 Neurofibromatosis 1, Neurofibromatosis 1-like syndrome NHS Nance-Horan syndrom NKX2-5, GATA4 cardiac defects (ASD, VSD and others) NR0B1 (DAX1) X-linked congen. adrenale Hyploplasie P53, CHEK2 Li-Fraumeni syndrome PAX6 Aniridia Typ II PGRN, MAPT (TAU) Frontotemporal dementia PITX2, FOXC1 (Axenfeld)-Rieger syndrome, Iridogoniodysgenesis, Peters syndrome PLEC1 Muscular dystrophy mit Epidermolysis bullosa PLOD1+2 Ehlers-Danlos syndr. 6A+B; Nevo-+Bruck-Syn. PROK2 (KAL4), PROKR2 (KAL3) Kallmann-Syndrom 3+4 PRP Präsenile Demenz (Creutzfeld-Jacob) PRSS1, SPINK1, CFTR hereditäre Pankreatitis PSAP Metachromatische Leukodystrophie; Morbus Krabbe; Morbus Gaucher, atypisch PSEN1, PSEN2 Präsenile Demenz (Alzheimer) PTCH1 Gorlin-Syndrom (Basalzellnävus-Synd.) PTPN11, SOS1, KRAS, RAF1 Noonan-Syndrom RECQL4 Rothmund-Thomson-Syndrom; Baller-Gerold-Syndrom; Rapadilino-Syndrom RET (MEN2A+ 2B) Multiple Endokrine Neoplasie 2 SALL1 Townes-Brocks-Syndrom SALL4 Okihiro-Syndrom SCN1A, GABRG2 Dravet-Syndrom (SMEI), familial hemiplegic migraine (SCN1A) SCN1B, SCN1A, SCN2A, GABRG2, GABRD Epilepsie, generalisiert, mit Fieberkrämpfen SDHB hereditäres Paragangliom SGSH Mukopolysaccharidose 3A (Sanfilippo A) SLC2A1 (GLUT1) Glukosetransporterdefekt SLC26A4 Taubheit, rezessiv (Pendred-Syndrom) SLURP1 Mal de Meleda SOS1, KRAS, RAF1, PTPN11 Noonan-Syndrom SPINK5 Netherton syndrome SPRED1 Neurofibromatose-ähnliches Syndrom STS Ichthyosis, X-linked TBX1 DiGeorge- / Velocardiofaziales Syndrom TBX3 Ulnar-Mammary syndrome TBX5 Holt-Oram syndrome TGFBR2, TGFBR1 Marfan-S./ Loeys-Dietz-Syndrom TGM1 lamelläre Ichthyose TNXB, COL3A1 Ehlers-Danlos-Syndrom Typ 3 TP63 (p73L, TP73L) Ektrodaktylie (Spalt-Hand-Fuß-Kr.) TPM2 Arthrogryposis multiplex congenita UBE3A Angelman-Syndrom UPF3B, MED12 FG-Syndrom, Lujan-Fryns-Syndrom VHL Von-Hippel-Lindau-Syndrom WNT3 Tetraamelie WNT7A Fuhrmann-Syndrom SYNDROME GENE Aniridia Type II PAX6 CFEOM Type 1 KIF21A CHARGE syndrome CHD7 DiGeorge syndrome del 22q11.2 Ehlers-Danlos syndr. type I/II COL5A1 Ehlers-Danlos syndr. type I/II COL5A2 Ehlers-Danlos syndr. type IV COL3A1 Feingold syndrome MYCN Fuhrmann syndrome WNT7A Greig syndrome (GCPS) GLI3 Holt-Oram syndrome TBX5 Okihiro syndrome SALL4 Townes-Brocks syndrome SALL1 Ulnar-Mammary syndrome TBX3 Marfan syndrome FBN1 Marfan syndrome TGFBR2 Neurofibromatosis 1 NF1 Rothmund-Thomson syndrome RECQL4 Tetraamelia WNT3 Williams-Beuren syndrome del 7q11.23 NEUROL-PSYCH. DISEASE GENE Presenile dementia (Alzh. type) PSEN1 Presenile dementia (Alzh. type) PSEN2 Presenile dementia (Alzh. type) APP Presenile dementia (Creutzf.-J.) PrP Frontotemporal dementia MAPT Frontotemporal dementia PGRN Rett syndrome MECP2 Krabbe disease GALC Fabry disease GLA HEREDITARY CANCER GENE HNPCC hMLH1 HNPCC hMSH2 HNPCC hMSH6 Li-Fraumeni syndrome TP53 Von-Hippel-Lindau syndrome VHL OTHER DISEASES GENE CBAVD/CUAVD CFTR Cystic fibrosis CFTR Deafness, recessive GJB2 (Cx26) Deafness, recessive (Pendred) SLC26A4 DERMATOL. DISEASES GENE EB dystrophica COL7A1 EB junctionalis COL17A1 EB junctionalis LAMB3 EB simplex KRT5, KRT14 Kindler Syndrom KIND1 Erythrokeratodermia var. GJB3, GJB4 Keratitis-Ichtyosis-deafness GJB2 (Cx26) Subtelomeric Deletions Array CGH Our diagnostic methods include DNA sequencing, Quantitative Real-Time PCR, MLPA and Array-CGH on up-to-date instruments.

Praxis für Humangenetik Freiburg - Prof. Kohlhase
jkohlhase@humangenetik-freiburg.de