Bioscientia GmbH

Personnel

Director: Berit Kerner, PhD, MD, Lab Director
Phone: +49 6132-781-628
Fax: +49 6132-781-194
Email: berit.kerner@bioscientia.de
Eva Decker,
Phone: +49 6132-781-195
Fax: +49 6132-781-194
Email: eva.decker@bioscientia.de
Anja Kron, Laboratory Contact
Phone: +49 6132-781-482
Fax: +49 6132-781-194
Email: anja.kron@bioscientia.de
Melanie Kuhn, Laboratory Contact
Phone: +49 6132-781-209
Fax: +49 6132-781-194
Email: melanie.kuhn@bioscientia.de
Christine Neuhaus, Laboratory Contact
Phone: +49 6132-781-356
Fax: +49 6132-781-194
Email: christine.neuhaus@bioscientia.de

Conditions and tests

335 conditions/phenotypes with 345 tests
Enter text to narrow down the list

11p partial monosomy syndrome1 test
3M syndrome 11 test
ABCD syndrome1 test
Achondroplasia1 test
Acrocephalosyndactyly type I1 test
Acromesomelic dysplasia 1, Maroteaux type1 test
Acromesomelic dysplasia 2C, Hunter-Thompson type1 test
Adrenoleukodystrophy2 tests
Alagille syndrome due to a JAG1 point mutation1 test
Alagille syndrome due to a NOTCH2 point mutation1 test
Alpha-1-antitrypsin deficiency1 test
Alport syndrome1 test
Andersen Tawil syndrome1 test
Angelman syndrome1 test
Angiokeratoma corporis diffusum1 test
Aniridia 11 test
Anonychia1 test
Anophthalmia-microphthalmia syndrome1 test
Arthrogryposis, renal dysfunction, and cholestasis 11 test
Atypical hemolytic-uremic syndrome with C3 anomaly1 test
Atypical hemolytic-uremic syndrome with I factor anomaly1 test
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1 test
Autosomal dominant Alport syndrome2 tests
Autosomal dominant hypophosphatemic rickets1 test
Autosomal dominant nonsyndromic hearing loss 11 test
Autosomal dominant nonsyndromic hearing loss 101 test
Autosomal dominant nonsyndromic hearing loss 111 test
Autosomal dominant nonsyndromic hearing loss 121 test
Autosomal dominant nonsyndromic hearing loss 131 test
Autosomal dominant nonsyndromic hearing loss 151 test
Autosomal dominant nonsyndromic hearing loss 171 test
Autosomal dominant nonsyndromic hearing loss 201 test
Autosomal dominant nonsyndromic hearing loss 221 test
Autosomal dominant nonsyndromic hearing loss 251 test
Autosomal dominant nonsyndromic hearing loss 281 test
Autosomal dominant nonsyndromic hearing loss 2A1 test
Autosomal dominant nonsyndromic hearing loss 2B1 test
Autosomal dominant nonsyndromic hearing loss 361 test
Autosomal dominant nonsyndromic hearing loss 3A1 test
Autosomal dominant nonsyndromic hearing loss 3B1 test
Autosomal dominant nonsyndromic hearing loss 441 test
Autosomal dominant nonsyndromic hearing loss 481 test
Autosomal dominant nonsyndromic hearing loss 4A1 test
Autosomal dominant nonsyndromic hearing loss 51 test
Autosomal dominant nonsyndromic hearing loss 61 test
Autosomal dominant nonsyndromic hearing loss 91 test
Autosomal recessive Alport syndrome2 tests
Autosomal recessive nonsyndromic hearing loss 121 test
Autosomal recessive nonsyndromic hearing loss 18A1 test
Autosomal recessive nonsyndromic hearing loss 1A2 tests
Autosomal recessive nonsyndromic hearing loss 21 test
Autosomal recessive nonsyndromic hearing loss 211 test
Autosomal recessive nonsyndromic hearing loss 221 test
Autosomal recessive nonsyndromic hearing loss 231 test
Autosomal recessive nonsyndromic hearing loss 241 test
Autosomal recessive nonsyndromic hearing loss 281 test
Autosomal recessive nonsyndromic hearing loss 291 test
Autosomal recessive nonsyndromic hearing loss 31 test
Autosomal recessive nonsyndromic hearing loss 301 test
Autosomal recessive nonsyndromic hearing loss 311 test
Autosomal recessive nonsyndromic hearing loss 351 test
Autosomal recessive nonsyndromic hearing loss 361 test
Autosomal recessive nonsyndromic hearing loss 371 test
Autosomal recessive nonsyndromic hearing loss 391 test
Autosomal recessive nonsyndromic hearing loss 491 test
Autosomal recessive nonsyndromic hearing loss 591 test
Autosomal recessive nonsyndromic hearing loss 61 test
Autosomal recessive nonsyndromic hearing loss 631 test
Autosomal recessive nonsyndromic hearing loss 671 test
Autosomal recessive nonsyndromic hearing loss 71 test
Autosomal recessive nonsyndromic hearing loss 771 test
Autosomal recessive nonsyndromic hearing loss 91 test
Autosomal recessive polycystic kidney disease1 test
Autosomal recessive Robinow syndrome1 test
Baraitser-winter syndrome 21 test
Bardet-Biedl syndrome 11 test
Bardet-Biedl syndrome 101 test
Bardet-Biedl syndrome 111 test
Bardet-Biedl syndrome 121 test
Bardet-Biedl syndrome 131 test
Bardet-Biedl syndrome 141 test
Bardet-Biedl syndrome 151 test
Bardet-Biedl syndrome 21 test
Bardet-Biedl syndrome 31 test
Bardet-Biedl syndrome 41 test
Bardet-Biedl syndrome 51 test
Bardet-Biedl syndrome 61 test
Bardet-Biedl syndrome 71 test
Bardet-Biedl syndrome 81 test
Bardet-Biedl syndrome 91 test
Bartter disease type 11 test
Bartter disease type 21 test
Bartter disease type 31 test
Bartter disease type 4A1 test
Beckwith-Wiedemann syndrome1 test
Biotin-responsive basal ganglia disease1 test
Borjeson-Forssman-Lehmann syndrome1 test
Brachydactyly type C1 test
Branchiootic syndrome 31 test
Branchiootorenal syndrome 11 test
Branchiootorenal syndrome 21 test
Breast-ovarian cancer, familial, susceptibility to, 11 test
Breast-ovarian cancer, familial, susceptibility to, 21 test
Brugada syndrome 11 test
Camptomelic dysplasia1 test
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
Ceroid lipofuscinosis, neuronal, 6A1 test
CFHR5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II1 test
Charcot-Marie-Tooth disease dominant intermediate B1 test
Charcot-Marie-Tooth disease type 1B1 test
Charcot-Marie-Tooth disease type 1D1 test
Charcot-Marie-Tooth disease type 1E1 test
Charcot-Marie-Tooth disease type 2A21 test
Charcot-Marie-Tooth disease type 4A1 test
Charcot-Marie-Tooth disease type 4E1 test
Charcot-Marie-Tooth disease type 4F1 test
Charcot-Marie-Tooth disease X-linked dominant 11 test
Charcot-Marie-Tooth Neuropathy Type 2H/2K1 test
CHARGE association1 test
Chronic infantile neurological, cutaneous and articular syndrome1 test
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
Cleidocranial dysostosis1 test
Cockayne syndrome type 11 test
Cockayne syndrome type 21 test
Cold-induced sweating syndrome 11 test
Congenital secretory diarrhea, chloride type1 test
Congenital stromal corneal dystrophy1 test
Cornelia de Lange syndrome 11 test
Crigler-Najjar syndrome1 test
Cystic fibrosis1 test
Dent disease type 11 test
Dent disease type 21 test
Desbuquois dysplasia 11 test
DFNA 3 Nonsyndromic Hearing Loss and Deafness1 test
DFNB 8/10 Nonsyndromic Hearing Loss and Deafness1 test
Diabetes insipidus, nephrogenic, autosomal2 tests
Diabetes insipidus, nephrogenic, X-linked1 test
Dihydropyrimidine dehydrogenase deficiency1 test
Dilated cardiomyopathy 1E1 test
Dilated cardiomyopathy 3B1 test
Disorder of cardiovascular system3 tests
Early-onset generalized limb-onset dystonia1 test
Ehlers-Danlos syndrome type 7A1 test
Ehlers-Danlos syndrome type 7B1 test
Ehlers-Danlos syndrome, kyphoscoliotic type 11 test
Ehlers-Danlos syndrome, type 31 test
Ellis-van Creveld syndrome2 tests
Familial dysautonomia1 test
Familial hypocalciuric hypercalcemia 11 test
Familial hypokalemia-hypomagnesemia1 test
Familial juvenile hyperuricemic nephropathy type 11 test
Familial Mediterranean fever1 test
Familial X-linked hypophosphatemic vitamin D refractory rickets1 test
Feingold syndrome type 11 test
Focal segmental glomerulosclerosis 11 test
Focal segmental glomerulosclerosis 21 test
Focal segmental glomerulosclerosis 31 test
Focal segmental glomerulosclerosis 51 test
Fragile X syndrome1 test
G6PD deficiency1 test
Gilbert syndrome1 test
Glucocorticoid deficiency 11 test
Glucocorticoid deficiency 21 test
Glucocorticoid-remediable aldosteronism1 test
Grebe syndrome1 test
Greig cephalopolysyndactyly syndrome1 test
GTP cyclohydrolase I deficiency1 test
Hb SS disease1 test
Hemochromatosis type 11 test
Hemolytic uremic syndrome, atypical, susceptibility to, 11 test
Hereditary fructosuria1 test
Hereditary insensitivity to pain with anhidrosis1 test
Hereditary pancreatitis2 tests
Hereditary xanthinuria type 11 test
Holt-Oram syndrome1 test
Hypercholesterolemia, autosomal dominant, 31 test
Hypercholesterolemia, autosomal dominant, type B1 test
Hypercholesterolemia, familial, 11 test
Hypercholesterolemia, familial, 41 test
Hyperimmunoglobulin D with periodic fever1 test
Hyperinsulinemic hypoglycemia, familial, 11 test
Hyperinsulinemic hypoglycemia, familial, 21 test
Hyperinsulinism-hyperammonemia syndrome1 test
Hypertrophic cardiomyopathy 11 test
Hypertrophic cardiomyopathy 41 test
Hypertrophic osteoarthropathy, primary, autosomal recessive, 11 test
Hypochondroplasia1 test
Hypogonadotropic hypogonadism 1 with or without anosmia1 test
Hypogonadotropic hypogonadism 2 with or without anosmia1 test
Hypogonadotropic hypogonadism 3 with or without anosmia1 test
Hypoparathyroidism, deafness, renal disease syndrome1 test
Hypophosphatemic rickets, X-linked recessive1 test
Infantile cortical hyperostosis1 test
Inflammatory bowel disease 11 test
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
Joubert syndrome 11 test
Joubert syndrome 101 test
Joubert syndrome 131 test
Joubert syndrome 141 test
Joubert syndrome 21 test
Joubert syndrome 31 test
Joubert syndrome 51 test
Joubert syndrome 61 test
Joubert syndrome 71 test
Joubert syndrome 81 test
Joubert syndrome 91 test
Joubert syndrome with renal defect1 test
Junctional epidermolysis bullosa gravis of Herlitz2 tests
Kartagener syndrome1 test
Langer mesomelic dysplasia syndrome1 test
Leber congenital amaurosis 11 test
Leber congenital amaurosis 101 test
Leber congenital amaurosis 111 test
Leber congenital amaurosis 121 test
Leber congenital amaurosis 132 tests
Leber congenital amaurosis 141 test
Leber congenital amaurosis 21 test
Leber congenital amaurosis 31 test
Leber congenital amaurosis 41 test
Leber congenital amaurosis 51 test
Leber congenital amaurosis 61 test
Leber congenital amaurosis 71 test
Leber congenital amaurosis 81 test
LEOPARD syndrome 11 test
Leri-Weill dyschondrosteosis1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Maturity-onset diabetes of the young type 21 test
Meckel syndrome, type 11 test
Meckel syndrome, type 111 test
Meckel syndrome, type 21 test
Meckel syndrome, type 31 test
Meckel syndrome, type 41 test
Meckel syndrome, type 51 test
Meckel syndrome, type 61 test
Melnick-Needles syndrome1 test
Metaphyseal chondrodysplasia, Schmid type1 test
Muenke syndrome1 test
Multiple endocrine neoplasia, type 21 test
Nail-patella syndrome1 test
Neonatal diabetes mellitus with congenital hypothyroidism1 test
Nephronophthisis 121 test
Neurofibromatosis, type 11 test
Neurohypophyseal diabetes insipidus1 test
Neuronal ceroid lipofuscinosis 72 tests
Neuronal ceroid lipofuscinosis 81 test
Neuronopathy, distal hereditary motor, type 5A1 test
Non-acquired combined pituitary hormone deficiency with spine abnormalities1 test
Nonpersistence of intestinal lactase1 test
Noonan syndrome 11 test
Noonan syndrome 41 test
Obesity1 test
Obesity due to leptin receptor gene deficiency1 test
Obesity due to pro-opiomelanocortin deficiency1 test
Osteogenesis imperfecta1 test
Pendred syndrome1 test
Pfeiffer syndrome1 test
Pigmentary pallidal degeneration1 test
Pituitary hormone deficiency, combined, 21 test
Polycystic kidney disease 21 test
Polycystic kidney disease, adult type1 test
Prader-Willi syndrome1 test
Primary ciliary dyskinesia 31 test
Progressive familial intrahepatic cholestasis type 11 test
Progressive familial intrahepatic cholestasis type 21 test
Progressive familial intrahepatic cholestasis type 31 test
Qualitative or quantitative defects of dystrophin1 test
Retinitis pigmentosa 11 test
Retinitis pigmentosa 101 test
Retinitis pigmentosa 111 test
Retinitis pigmentosa 121 test
Retinitis pigmentosa 131 test
Retinitis pigmentosa 141 test
Retinitis pigmentosa 171 test
Retinitis pigmentosa 181 test
Retinitis pigmentosa 191 test
Retinitis pigmentosa 201 test
Retinitis pigmentosa 251 test
Retinitis pigmentosa 271 test
Retinitis pigmentosa 301 test
Retinitis pigmentosa 311 test
Retinitis pigmentosa 331 test
Retinitis pigmentosa 351 test
Retinitis pigmentosa 371 test
Retinitis pigmentosa 381 test
Retinitis pigmentosa 41 test
Retinitis pigmentosa 401 test
Retinitis pigmentosa 411 test
Retinitis pigmentosa 421 test
Retinitis pigmentosa 431 test
Retinitis pigmentosa 441 test
Retinitis pigmentosa 451 test
Retinitis pigmentosa 461 test
Retinitis pigmentosa 471 test
Retinitis pigmentosa 481 test
Retinitis pigmentosa 491 test
Retinitis pigmentosa 501 test
Retinitis pigmentosa 511 test
Retinitis pigmentosa 541 test
Retinitis pigmentosa 71 test
Retinitis pigmentosa 91 test
Severe myoclonic epilepsy in infancy1 test
Short-rib thoracic dysplasia 6 with or without polydactyly1 test
Sickle cell-hemoglobin C disease1 test
Silver-Russell syndrome 11 test
Silver-Russell syndrome due to an imprinting defect of 11p151 test
Spinal muscular atrophy1 test
Stickler syndrome type 11 test
Tay-Sachs disease1 test
Thanatophoric dysplasia type 11 test
Thrombophilia due to activated protein C resistance1 test
Thrombophilia due to thrombin defect1 test
Thyroid hormone resistance syndrome1 test
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Turcot syndrome2 tests
Type II Collagenopathies1 test
Ulnar-mammary syndrome1 test
Uniparental disomy of 71 test
Upshaw-Schulman syndrome1 test
Usher syndrome type 1B1 test
Usher syndrome type 1C1 test
Usher syndrome type 1D1 test
Usher syndrome type 1F1 test
Usher syndrome type 2A1 test
Usher syndrome type 2C1 test
Usher syndrome type 2D1 test
Usher syndrome type 31 test
Von Hippel-Lindau syndrome1 test
Waardenburg syndrome type 11 test
Waardenburg syndrome type 2A1 test
Waardenburg syndrome type 31 test
Wilms tumor 11 test
Wilson disease1 test
X-linked Alport syndrome1 test
X-linked mixed hearing loss with perilymphatic gusher1 test
Y chromosome-related disorders1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Uniparental Disomy (UPD) Testing

List of certifications/licenses

Certifications

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 99D0999793, Expiration date: 2018-04-30
CAP, Number: 2998501, Expiration date: 2017-06-10

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.