Bioscientia Zentrum für Humangenetik
Description of facility
Director / Spokesperson
Dr. med. Oliver HarzerInformation
Care facility for adults and childrenDescription
Das Bioscientia Zentrum für Humangenetik steht seit über 20 Jahren niedergelassenen Ärzten und Kliniken in der genetischen Diagnostik und bei der Beratung von Patienten unterstützend zur Seite, um seltene und genetisch (mit-)bedingte Erkrankungen aufzuklären. Das Beratungs- und Diagnostikangebot umfasst die Bereiche Molekulargenetik, Array-CGH, Zytogenetik, FISH, Tumorgenetik und Biochemischer Genetik.
Care provisions
This facility offers the following
- Genetic counselling
-
Clinical studies / research
- Diagnostic
Contact
Information
06132 781411
06132 781194
info.genetik@bioscientia.de
Website
http://www.bioscientia-humangenetik.de/
Languages
Deutsch
Englisch
Preview of the assigned diseases 7
Tremor-nystagmus-duodenal ulcer syndrome
Congenital stationary night blindness
Microphthalmia-anophthalmia-coloboma
Neuronal ceroid lipofuscinosis
Peroxisome biogenesis disorder
Waldenström macroglobulinemia
Pyruvate dehydrogenase deficiency
Genetic obesity
Short stature due to growth hormone qualitative anomaly
Fanconi anemia
Jervell and Lange-Nielsen syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Neonatal diabetes mellitus
Familial glucocorticoid deficiency
Rare neoplastic disease
Xeroderma pigmentosum
Congenital glaucoma
Zellweger syndrome
Glycogen storage disease
Cone rod dystrophy
Rare insulin-resistance syndrome
Noonan syndrome
Norrie disease
Mucopolysaccharidosis
BOR syndrome
Retinoblastoma
B-cell prolymphocytic leukemia
Retinitis pigmentosa
Ichthyosis
Splenic marginal zone lymphoma
Inherited arrhythmogenic cardiomyopathy
Primary early-onset glaucoma
Bartter syndrome
Glial tumor
Amyotrophic lateral sclerosis
Sinoatrial node dysfunction and deafness
Huntington disease
Limb-girdle muscular dystrophy
Perrault syndrome
T-cell prolymphocytic leukemia
Ectodermal dysplasia syndrome
Brugada syndrome
Extranodal nasal NK/T cell lymphoma
Burkitt lymphoma
Follicular lymphoma
SHOX-related short stature
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Congenital disorder of glycosylation
Rare pulmonary hypertension
Dyskeratosis congenita
Primary cutaneous peripheral T-cell lymphoma not otherwise specified
MODY
Familial thoracic aortic aneurysm and aortic dissection
Thrombotic microangiopathy
Progressive external ophthalmoplegia-myopathy-emaciation syndrome
Achromatopsia
Caroli syndrome
ALK-positive large B-cell lymphoma
Stargardt disease
Stickler syndrome
Cranioectodermal dysplasia
Dent disease
Senior-Loken syndrome
Combined pituitary hormone deficiencies, genetic forms
46,XY difference of sex development
Multiple myeloma
Genetic cystic renal disease
Ocular albinism
Vasculitis due to ADA2 deficiency
Pendred syndrome
Rare major hypertriglyceridemia
Corneal dystrophy
Hypophosphatemic rickets
Waardenburg syndrome
Epidermolysis bullosa simplex
Syndromic cataract
Lysosomal disease
Hereditary breast cancer
Ciliopathy
Propionic acidemia
Progressive familial intrahepatic cholestasis
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Mantle cell lymphoma
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Myelodysplastic syndrome
Thrombotic thrombocytopenic purpura
Primary cutaneous T-cell lymphoma
Andersen-Tawil syndrome
Ovarian cancer
Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
Idiopathic steroid-sensitive nephrotic syndrome
Ehlers-Danlos syndrome
Autosomal recessive polycystic kidney disease
Fabry disease
Progeroid syndrome
Syndromic obesity
Porphyria
Prader-Willi syndrome
X-linked hereditary sensory and autonomic neuropathy with deafness
Disorder of fatty acid oxidation and ketogenesis
Non-acquired combined pituitary hormone deficiency
Coenzyme Q10 deficiency
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Paroxysmal kinesigenic dyskinesia
Rare X-linked non-syndromic sensorineural deafness type DFN
Alport syndrome
Autosomal dominant optic atrophy, classic form
Familial ovarian cancer
Familial hyperinsulinism
Leber congenital amaurosis
Familial hypercholanemia
Joubert syndrome
Usher syndrome
Disorder of fatty acid oxidation and ketone body metabolism
Marfan syndrome and Marfan-related disorders
Pachydermoperiostosis
Gluconeogenesis disorder
B-cell chronic lymphocytic leukemia
Kallmann syndrome
Myeloproliferative neoplasm
Familial exudative vitreoretinopathy
Hairy cell leukemia variant
8.0498828275283249.98209975Bioscientia Zentrum für Humangenetik
Last updated:
29.12.2022