Analyzes directory
Our daily updated online index for laboratory medical analytics is available on this page for reference purposes, downloading or printing. The names of the individual tests /parameters are listed both in German and English in the online index. By entering either the German or English term in the search function you can directly access the relevant parameter.
More detailed information on the individual analyses is however only available in German language. Should you have any questions on sample materials, preanalytics or indication please contact the specific MVZ sectors or send a mail.
To request analyses from abroad, please use this form Clinical Lab Request.
Laboratoriumsmedizin
Humangenetik
1
2
- 2-Methylacetoacetyl-CoA-Thiolase-Mangel (Beta-Ketothiolase-/3-Oxothiolase-Mangel, MAT-/T2-Mangel, ACAT1)
- 2-methylbutyryl-CoA dehydrogenase deficiency (MBDD, Short / branched-chain acyl-CoA dehydrogenase deficiency, SBCADD, 2-methylbutyrylglycinuria)
3
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG-CoA lyase deficiency, HMGCL)
- 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency (HMG-CoA synthase deficiency, HMGCS2)
5
A
- AA / myeloid, aplastic anemia - prognostic and therapeutic markers - NGS panel
- Abacavir-Hypersensitivitätsreaktion
- ABCC2 for Dubin-Johnson syndrome
- Aceruloplasminemia
- Achondrogenesis type 1B (ACG1B, SLC26A2)
- Achondroplasia
- Acidosis, distal renal tubular (dRTA)
- Acrodermatitis enteropathica
- Acromesomelic dysplasia type Maroteaux
- Adrenogenital syndrome (AGS)
- Adrenogenital syndrome, 11-beta-hydroxylase deficiency
- Adrenogenital syndrome, 17-alpha-hydroxylase deficiency
- Adrenogenital syndrome, 21-hydroxylase deficiency
- Adrenogenital syndrome, 3-beta-hydroxysteroid dehydrogenase deficiency, type II
- Adrenogenital syndrome, POR deficiency POR deficiency, disordered steroidogenesis due to cytochrome P450 oxidoreductase
- Congenital adrenal hyperplasia, NGS panel
- Alpha-1-antitrypsin deficiency / Serpin peptidase inhibitor
- Alpha-thalassemia / mental retardation syndrome, X-linked (ATRX syndrome)
- Alport-Syndrom (AS)
- Alzheimer disease, familial
- AML / Akute Myeloische Leukämie - Panel 3 sensitiv für sAML, NGS-Panel
- AML / Myeloid, acute myeloid leukemia - panel 2 other therapeutic options, NGA panel
- AML / Myeloid, acute myeloid leukemia - prognostic panel 1, NGS
- Amyotrophic lateral sclerosis / ALS - NGS panel
- Analysis of disorders affecting ketone body metabolism and selected other metabolic disorders, NGS panel
- Analysis of ketone body metabolism/glycogen storage diseases and selected other metabolic disorders, NGS panel
- Androgen receptor (DHTR)
- Angelman syndrome (AS)/ Happy puppet syndrome
- Angelman syndrome, Happy Puppet syndrome - NGS panel
- Angioedema, hereditary , type I, II, III (coagulation factor XII)
- Aniridia
- Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (Rapp-Hodgkin syndrome); Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome; Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3)
- Antithrombin Mutationen
- Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- Apert syndrome (FGFR2)
- Apolipoprotein B-100, familial defective (APO-B100, FDB)
- Apolipoprotein-E Isoformen (E2, E3, E4)
- Arachnodactyly, contractural congenital (CCA, Beals syndrome)
- Array-CGH, mental retardation, dysmorphic features
- Arrhythmogenic right ventricular cardiomyopathy (ARVD), NGS panel
- Arrhythmogenic right ventricular dysplasia / cardiomyopathy
- Ataxia
- Ataxia with oculomotor apraxia
- Ataxia, episodic type 1/ Myokymia syndrome
- Ataxia, episodic, NGS panel
- Friedreich ataxia, autosomal recessive / FRDA
- Spinocerebellar ataxia (autosomal dominant) Type 1-3, 6-8, 12, 17 (SCA1-3, 6-8, 12, 17)
- Spinocerebellar ataxia (SCA), NGS panel
- Spinocerebellar Ataxia, autosomal recessive / SCAR - NGS panel
- Atelosteogenesis type 2 (AO2, SLC26A2)
- Atrial fibrillation, familial
- Atypical Rett Syndrome (atypical RTT)
- Autism spectrum disorder / ASD - NGS panel
- Autoimmune polyendocrinopathy syndrome , type I (AIRE)
- AZF deletions (microdeletions Y-linked)
B
- Bardet-Biedl syndrome, NGS panel
- Bartter- syndrome / Gitelman syndrome - NGS panel
- Basalioma, hereditary - NGS panel
- BCR-ABL t(9;22)
- Beare-Stevenson cutis gyrata syndrome (FGFR2)
- Bechterew, Morbus (Ankolysierende Spondylitis)
- Beckwith-Wiedemann syndrome - NGS panel
- Beckwith-Wiedemann syndrome (BWS)
- Bethlem myopathy, NGS panel
- Blau syndrome (BS)/early-onset sarcoidosis (EOS)
- BRAF Mutationsanalyse (V600E)
- Breast cancer and Ovarian cancer
- Brugada syndrome - NGS panel
- Bruton agammaglobulinemia tyrosine kinase, resistance to dasatinib
- Bruton agammaglobulinemia tyrosine kinase, X-linked
- Butyrylcholinesterase deficiency / BCHE
C
- CADASIL / Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- Calreticulin mutations (CALR)
- Cancer predisposition, hereditary - NGS panel
- Cancer predisposition, hereditary - XXL NGS panel
- CARASIL syndrome
- Carboxylesterase 1 deficiency
- Cardiofaciocutaneous syndrome (CFC syndrome: BRAF, MAP2K1, MAP2K2, KRAS)
- Cardiomyopathy, familial hypertrophic
- Cardiomyopathy, familial hypertrophic - NGS panel
- Cataract, hereditary - NGS panel
- Catechol-O-methyltransferase
- Catecholaminergic polymorphic ventricular tachycardia
- Catecholaminergic polymorphic ventricular tachycardia / CPVT - NGS panel
- CBFB-MYH11 inv(16)
- CBFB-MYH11 inv(16) fusion type A
- CCAAT / enhancer-binding protein, alpha (CEBPA)
- Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy -NGS panel
- Chromosome 1p36 deletion syndrome
- Chronic lymphoblastic leukemia (B cell): prognostic markers IGHV, TP53, SF3B1, NOTCH1
- Chronic myeloid leukemia, see BCR-ABL
- Chronic neutrophilia caused by heterozygous mutation in the CSF3R gene
- CINCA syndrome / NOMID syndrome
- Clonality verification T-cell receptor, beta and gamma chain (TCRB, TCRG)
- Clouston syndrome (Hidrotic ectodermal dysplasia 2, HED2)
- Cold urticaria, familial (FCU)
- Cold-induced sweating syndrome, CISS
- Collagenopathies, type 2 (COL2A1)
- Colorectal cancer / HNPCC / Lynch syndrome - NGS panel
- Colorectal cancer, hereditary / HNPCC / Lynch syndrome
- Congenital anomalies of the kidney and urinary tract / CAKUT - NGS panel
- Congenital disorder of glycosylation / CDG - NGS panel
- Congenital urea cycle defects - NGS panel
- Cornelia de Lange syndrome / CDLS - NGS panel
- Costello syndrome (HRAS)
- Coumarin resistance
- Cowden syndrome 6
- Craniosynostosis
- Creatine deficiency - NGS panel
- Cri-du-chat syndrome
- Crigler-Najjar syndrome (Type1, CN1; Type2, CN2)
- Crohn disease
- Crouzon syndrome (FGFR2)
- Crouzon syndrome with acanthosis nigricans (CAN)
- Cumarin sensitivity
- Cystic fibrosis (CF) / Mucoviscidosis
- Cytochromes P 450
D
- Diabetes
- Diastrophic dysplasia (DTD, SLC26A2)
- DiGeorge syndrome screening, Velocardiofacial syndrome (VCFS)/ Shprintzen syndrome (MLPA)
- Dihydropyrimidin-Dehydrogenase (DPD), 5-Fluoruracil-Toxizität
- Dilated cardiomyopathy / DCM - NGS panel
- Disorders of ketone body metabolism - NGS panel
- DSD / Disorders of sexual development
- 17-beta hydroxysteroid dehydrogenase III deficiency, 46,XY DSD
- 46,XX Disorders of sexual development - NGS panel
- 46,XY Disorders of sexual development - NGS panel
- Androgen receptor deficiency, Androgen insensitivity syndrome, 46,XY
- Antley-Bixler syndrome
- Fraser syndrome, NGS panel
- Hand foot genital syndrome, NGS panel
- Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH), NGS panel
- POR deficiency / disordered steroidogenesis due to cytochrome P450 oxidoreductase
- Steroid-5-alpha reductase deficiency, 46,XY DSD
- Dyskinesia, primary ciliary / PCD
- Dystonia - NGS panel
E
- EGFR Mutationsanalyse bei nicht-kleinzelligem Bronchial-Ca
- Ehlers-Danlos syndrome (EDS)
- Elliptocytosis (HE) / Pyropoikilocytosis (HPP), hereditary
- Endometrial cancer, hereditary - NGS panel
- Eosinophilia differential diagnosis
- Epilepsies
- Benign familial neonatal seizures / BFNS - NGS panel
- Benigne neonatale familiäre Epilepsie Typ 1 und 2
- Dravet-Syndrom, schwere frühkindliche myoklonische Epilepsie, frühe infantile epileptische Enzephalopathie - NGS-Panel
- Early infantile epileptic encephalopathy / EIEE - NGS panel
- Epilepsy - NGS panel
- Focal epilepsy with speech disorder with or without mental retardation, Landau-Kleffner syndrome, continuous spikes and waves during sleep, Benign epilepsy of childhood with centrotemporal spikes
- Frühinfantile epileptische Enzephalopathie 11 / EIEE11
- Frühkindliche myoklonische Epilepsien
- Erythrocytosis, familial
- Erythrocytosis, isolated
- ETV6-PDGFRB fusion gene
F
- Fabry disease (Alpha-galactosidase A deficiency)
- Faktor V Leiden-Mutation
- Faktor VII-Mangel, hereditärer
- Faktor XII-Mangel (FXII-Mangel), kongenitaler
- Fever syndrome, hereditary - NGS panel
- FGFR3 mutations
- FIP1L1/PDGFRA fusion gene (microdeletion 4q12)
- Flecked retina syndromes - NGS panel
- Floating-Harbour syndrome (FHS)
- FLT3 gene: FMS-related tyrosine kinase 3, qualitative
- Fragile X syndrome (FRAXA)
- Frontotemporale Demenz (FTD, Morbus Pick)
- Fructose intolerance, hereditary (HFI)
- Fructose-1,6-bisphosphatase deficiency
G
- Galactosemia (Galactose-1-phosphate-uridyltransferase deficiency)
- Gastric cancer, familial diffuse (E-Cadherin)
- Gastric cancer, hereditary - NGS panel
- Gastrointestinal stromal tumors (GIST), familial
- Gaucher disease
- Gilbert syndrome / Meulengracht disease
- Glucose-6-phosphate-dehydrogenase deficiency (acute hemolytic anaemia)
- GLUT1 deficiency syndrome
- Glutathione S-transferase (M1, P1, T1)
- Glutathione synthetase deficiency (GSSD, 5-Oxoprolinuria, GSS)
- Glycine encephalopathy - NGS panel
- Glycogen storage disease / GSD, NGS panel
- Glycogen storage disease 0 (GSD0, hepatic glycogen synthase deficiency, GYS2)
- Glycogen storage disease II, GSD2
- Glycogen storage disease XIV
- Glykoprotein 1a-Mangel (Integrin-Alpha-2-Gen, C807T Polymorphismus)
H
- Haemoglobinopathies, various
- Hairy cell leukemia, BRAF mutations (V600E, V600D, V600K)
- Heart defects, congenital - NGS panel
- Hemochromatosis, hereditary
- Hemochromatosis, hereditary (NGS panel)
- Hemochromatosis, hereditary (staged diagnostics)
- Hemochromatosis, hereditary: Type 1, adult form (most common mutations: HFE C282Y, H63D among others)
- Hemochromatosis, hereditary: type 1, adult form (rare mutations in HFE)
- Hemochromatosis, hereditary: type 2A, juvenile (Hemojuvelin)
- Hemochromatosis, hereditary: type 2B, juvenile (Hepcidin, HAMP)
- Hemochromatosis, hereditary: type 3, adult form (transferrin receptor 2, TFR2)
- Hemochromatosis, hereditary: type 4, adult form (Ferroportin, SLC40A1)
- Hereditary Inclusion body myopathy 2
- Hermansky-Pudlak syndrome / HPS - NGS panel
- Hirschsprung disease, mutation verification in RET protooncogene
- HLA (Human leukocycte antigens)
- Homocystinuria (Cystathionine beta-synthase deficiency, CBS)
- Huntington disease (prev: Chorea Huntington)
- Hutchinson-Gilford progeria syndrome
- Hyper-IgD syndrome, familial and Mevalonic aciduria
- Hyper-IgE recurrent infection syndrome, familial (HIES)
- Hypercholesterinämie, familiäre (FH) - Einzelanalysen
- Hypercholesterolemia, familial (FH) - NGS panel
- Hyperferritinemia-cataract syndrome/ benign hyperferritinemia
- Hyperparathyroidism-jaw tumor syndrome, CDC73 (HRPT2)
- Hyperparathyroidism, neonatal severe (NSHPT)
- Hyperthyroidism, isolated (TSHR)
- Hypertriglyceridämie Typ I, V, IB und ID
- Hypochondroplasia
- Hypogonadism, hypergonadotropic
- Hypogonadism, hypogonadotropic
- Hypogonadotropic hypogonadism - NGS panel
- Hypogonadotropic hypogonadism type 1, Kallmann syndrome 1
- Hypogonadotropic hypogonadism type 2, Kallmann syndrome 2
- Hypogonadotropic hypogonadism type 3, Kallmann syndrome 3
- Hypogonadotropic hypogonadism type 4, Kallmann syndrome
- Hypogonadotropic hypogonadism type 7, Gonadotropin-releasing hormone receptor
- Hypokalemic periodic paralysis
- Hypokalzämie, autosomal dominante (ADH) / familiär isolierter Hypoparathyreoidismus (FIH)
- Hypokalziurische Hyperkalzämie, familiäre (FHH) / Hyperkalzämie, familiär benigne (FBH)
- Hypophosphatasia
- Hypophosphatemic rickets
I
- IGHV-Status as prognosis marker for CLL
- Immunoglobulin heavy chains variable gene cluster, IGHV
- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
- Irinotecan-intolerance
- Iron refractory iron deficiency anemia (IRIDA)
J
K
- Kabuki syndrome - NGS panel
- Kalzium-sensing-Rezeptor Mutationen (CASR)
- Keratitis-ichthyosis-deafness syndrome (KID syndrome) / Hystrix-like-ichthyosis-deafness-syndrome (HID-syndrome)
- Ketogenesis disorders, NGS panel
- Ketolysis disorders, NGS panel
- Kidney disease, tubulointerstitial autosomal dominant / ADTKD - NGS panel
- Kidney diseases
- KIT Mutationen bei Gastrointestinalen Stromatumoren (GIST)
- KIT mutations verification in the case of AML
- KRAS Mutationsanalyse
L
- L1 disease; CRASH Syndrome; Hydrocephalus due to aqueductal stenosis; Hydrocephalus with congenital idiopathic intestinal peseudoobstruction; Hydrocephalus with Hirschsprung disease; MASA Syndrome
- L1CAM syndrome
- Lactose intolerance, hereditary
- Langer-Giedion syndrome
- Large granular lymphocytic leukemia, T-LGL and NK-LGL: STAT3 mutations
- LDL receptor defect
- LDLRAP1 mutations (Autosomal recessive hypercholesterolemia, ARH)
- Leber congenital amaurosis (LCA), NGS panel
- Leber hereditary optic atrophy/neuropathy (LHON)
- Left ventricular noncompaction / LVNC, NGS panel
- Legius syndrome (Neurofibromatosis type 1-like syndrome (NFLS), SPRED1)
- Leigh Syndrome / infantile subacute necrotizing encephalopathy, NGS panel
- LEOPARD syndrome (PTPN11, RAF1, BRAF)
- Leptin deficiency, congenital
- Leptin receptor deficiency
- Leukodystrophy
- Li-Fraumeni syndrome
- Limb-girdle muscular dystrophy
- Lipodystrophien, angeborene - NGS-Panel
- Lipodystrophy, familial partial - Dunnigan type
- Lissencephaly, NGS panel
- Loeys-Dietz syndrome (LDS) / Marfan syndrome type 2 (MFS2)
- Long QT Syndrome, NGS panel
- Lymphoid, chronic lymphocytic leukemia, prognostic NGS panel
- Lymphoid, unclear disease entity - NGS panel
M
- Macrocephaly, NGS panel
- Macroglobulinemia, Waldenstrom, somatic LPL, IgM MGUS; MYD88 mutations
- Malignant hyperthermia, NGS panel
- Malignant solid tumors - therapy planning, NGS panel
- Malouf syndrome
- Marfan syndrome
- Mastocytosis
- Meckel-Syndrom / Meckel-Gruber-Syndrom, NGS-Panel
- Mediterranean fever, familial (FMF)
- Medium chain Acyl-CoA dehydrogenase (MCAD)
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Melanocortin-4 receptor deficiency (MC4R)
- Melanoma, familial / Melanoma-pancreatic cancer syndrome
- Melanoma, hereditary - NGS panel
- MELAS (Mitochondriale Enzephalomyopathie mit Laktatazidose und Schlaganfall-ähnlichen Episoden), NGS-Panel
- Metabolische Myopathie, NGS-Panel
- Microcephaly (MCPH5)
- Microcephaly, NGS panel
- Migraine
- Mikrophthalmie-Anolphthalmie-Kolombom-Komplex / MAC, NGS-Panel
- Miller-Dieker lissencephaly syndrome (MDLS)
- Mitochondrial cardiomyopathy, NGS panel
- Mitochondrial hepatic encephalomyopathy, NGS panel
- Mitochondriales Genom komplett (mtDNA, NC 012920.1), NGS-Panel
- MLL / MLL-PTD (partial Tandem duplication)
- MLL-MLLT2 (AF4) Transcripts(4;11)(q21;q23) in the case of ALL
- MODY (Maturity-onset diabetes of the young), single gene analysis
- MODY, NGS-Panel (Maturity Onset Diabetes of the Young Panel)
- Molekularpathologische Untersuchung der Methylierung der Promotorbereiche der Reparaturenzym-Gene MLH1, MLH3, MSH2, MSH3, MSH6, MGMT und PMS2 bei Verdacht auf HNPCC / Lynch-Syndrom
- Monocarboxylate transporter 1 deficiency (MCT1 deficiency, SLC16A1)
- MPL mutations cause congenital amegakaryocytic Thrombocytopenia CAMT
- MPL mutations in the case of thrombocytopenia or myelofibrosis
- MSI - Mikrosatelliteninstabilität eines kolorektalen Karzinoms
- MTHFR (5,10-Methylenetetrahydrofolate reductase deficiency)
- Muckle-Wells syndrome (MWS)
- Muenke syndrome
- Mukopolysaccharidosen, Typ I-IV u.a. (M. Hurler, M. Scheie, Hunter-Syndrom, Sanfilippo-Syndrom, M. Morquio), NGS-Panel
- Multidrug resistance protein 1
- Multiple endocrine neoplasia type I, MEN1
- Multiple endocrine neoplasia type II, MEN2
- Multiple epiphyseal dysplasia (MED/EDM, dominant), type 1-3 and 5-6
- Multiple epiphyseal dysplasia (MED/EDM, recessive), type 4
- Multiplex aberration screening, 28 markers (for AML, ALL, CML)
- Muscular atrophies
- Muscular dystrophy
- Emery-Dreifuss muscular dystrophy (type 1)
- Emery-Dreifuss muscular dystrophy (type 2 and type 3)
- Limb girdle muscular dystrophy Type 1C (LGDM 1C)
- Muscular dystrophy, limb-girdle 1A-F, 2A-R (LGMD1A-F, LGMD2A-R)
- Muskeldystrophie Typ Duchenne (DMD) oder Becker (BMD)
- Muskeldystrophien, NGS-Panel
- Myotonic dystrophy type 1 (DM1, Steinert disease)
- Myotonic dystrophy type 2 (DM2, PROMM)
- Oculopharyngeal muscular dystrophy (OPMD)
- Myasthenic syndrome, myasthenia - NGS panel
- Myelofibrosis
- Myeloid neoplasias (AML, CMML, MDS, MPN) - mutation screening
- Myeloid, atypical chronic myelogenic leukemia, chronic neutrophilic leukemia, NGS panel
- Myeloid, chronic myelomonocytic leukemia: core panel diagnostic and prognostic, NGS
- Myeloid, myelodysplastic syndrome MDS - prognostic markers, NGS panel
- Myeloid, myelodysplastic syndrome MDS diagnostic, NGS panel
- Myeloid, myelodysplastic syndrome MDS, markers with therapeutic relevance, NGS panel
- Myeloid, myelodysplastic syndrome with isolated del(5q), markers with therapeutic relevance, NGS panel
- Myeloid, myelodysplastic/myeloproliferative neoplasms, MDS / MPN overlap, NGS panel
- Myeloid, myeloproliferative neoplasia, essential thrombocythemia ET - prognostic panel, NGS
- Myeloid, myeloproliferative neoplasia, extended diagnosis panel, NGS panel 2
- Myeloid, myeloproliferative neoplasia, extended prognostic panel, NGS
- Myeloid, myeloproliferative neoplasia, myelofibrosis prognostic panel according to MIPSS70 or MIPSS70 plus, NGS panel
- Myeloid, myeloproliferative neoplasia, myelofibrosis prognostic panel MIPSS70 or MIPSS70 plus extended, NGS panel
- Myeloid, myeloproliferative neoplasia, NGS panel 1
- Myeloid, myeloproliferative neoplasia, polycythemia vera - prognostic panel, NGS
- Myeloid, myeloproliferative neoplasia, systemic mastocytosis SM, AHN panel, NGS
- Myeloid, myeloproliferative neoplasia, systemic mastocytosis SM, prognostic panel small, NGS panel
- Myeloid, unclear disease entity, NGS panel
- Myeloid, unclear disease entity, NGS panel
- Myotonia congenita (CLCN1)
- Myotonia congenita, NGS-Panel
- Myotubular myopathy, X-linked
N
- N-Acetyltransferase 1
- N-Acetyltransferase 2 (Acetylation, slow)
- NAD(P)H: Chinonoxidoteductase-1 (NQO1) *2 (609C>T)
- Narkolepsie
- Neonatal apneas, NGS panel
- Nephrogenic diabetes insipidus (NDI) X-linked
- Nephrotic syndrome, hereditary - NGS panel
- Neurodegeneration mit Eisenablagerung im Gehirn / NBIA
- Neurodegeneration with brain iron accumulation / NBIA - NGS panel
- Neurodegeneration with brain iron accumulation 3 / Neuroferritinopathy (NBIA3, FTL)
- Neurofibromatosis type 1 (NF1) / Von Recklinghausen disease
- Neurofibromatosis type 2 (NF2)
- Neutropenie
- Noonan syndrome (PTPN11, SOS1, RAF1, KRAS, BRAF, RIT1)
- NPM1 gene for nucleophosmin, qualitative
- NPM1 gene for nucleophosmin, quantitative
- NRAS gene
- NRAS Mutationsanalyse
- Nuclear mitochondriopathy, NGS panel
O
- Obesity, NGS panel
- Oculocutaneous Albinism, NGS panel
- Odontoonychodermal dysplasia, Schopf-Schulz-Passarge syndrome, Tooth agenesis, selective, 4
- Olaparib therapy - NGS panel ( BRCA1 and BRCA2 sequencing)
- Oligodontia-colorectal cancer syndrome
- Optic atrophy, nuclear type - NGS panel
- Optikus-Atrophien
- Organic anion transporter 1B1
- Osler-Rendu-Weber disease (ENG, ACVRL1)
- Osteogenesis imperfecta (OI)
- Ovalocytosis, southeast asian (SAO)
- Ovarian cancer
- Overgrowth syndromes, NGS panel
P
- Pancreatic cancer, excretory
- Pancreatic cancer, hereditary - NGS panel
- Pancreatitis, chronic idiopathic pancreatitis predisposition
- Pancreatitis, hereditary / PCTT, NGS panel
- Pantothenate kinase-associated neurodegeneration (PKAN, NBIA1, PANK2)
- Paraganglioma / Pheochromocytoma, NGS panel
- Paraoxonase 1
- Parkinson disease - NGS panel
- PCSK9 Mutations (FH Type 3, FH3) / Hypercholesterolemia, familial
- PDGFRA Mutationen bei Gastrointestinalen Stromatumoren (GIST)
- Pendred syndrome (PDS) / DFNB4
- Peutz-Jeghers syndrome (PJS)
- Pfeiffer syndrome (FGFR1, FGFR2)
- Phelan-McDermid syndrome
- Phenylketonuria (PKU), Phenylalanine hydroxylase deficiency
- Pheochromocytoma (PC)
- Pheochromocytoma / Paraganglioma syndrome PGL1, PGL3 and PGL4
- Philadelphia chromosome
- Phosphatidylinositol-3-Kinase (PIK3CA) Mutationsanalyse (Ex 11 und 22)
- Pituitary adenomas, familial (AIP)
- Pituitary hormone deficiency, hypopituitarism, panhypopituitarism - NGS panel
- Plasminogen-Aktivator-Inhibitor-1 Promotorpolymorphismus 4G/5G (PAI1)
- Plasminogen-Aktivator-Inhibitor-1-Mangel (PAI-1-Mangel), kongenitaler
- PML/RAR alpha t(15;17)
- PML/RAR alpha t(15;17) quantitative, L type (BCR1), S type (BCR3) and V type (BCR2)
- Polycystic liver disease, NGS panel
- Polycythemia vera (PV)
- Polyposis coli, (attenuated) familial adenomatous (FAP, AFAP) - NGS panel
- Polyposis coli, familial adenomatous (FAP, AFAP)
- Polyposis coli, familiäre attenuierte Form, MUTYH-assoziiert (MAP, AFAP)
- Pontine and cerebellar hypoplasia, NGS panel
- Porphyria diverse defects
- Potocki-Lupski-Syndrom
- Prader-Willi syndrome (PWS)
- Prämature Ovarialinsuffizienz (POI), NGS-Panel
- Primary coenzyme Q10 deficiency (COQ10D), NGS panel
- Primary localized cutaneous amyloidosis, hereditary (OSMR mutations)
- Primary open angle glaucoma (POAG) juvenile onset - NGS panel
- Primary open angle glaucoma (POAG), adult onset - NGS panel
- Prion diseases, familial (PRNP)
- Progressive familiäre intrahepatische Cholestase, NGS-Panel
- Proopiomelanocortin deficiency
- Protein C Mutationen
- Protein S Mutationen
- Proteus Syndrome, somatic
- Prothrombin (Faktor II) Mutation
- Pseudoachondroplasia (PSACH)
- PTEN hamartoma tumor syndrome
- Pulmonary arterial hypertension, NGS panel
- Pyruvat kinase, erythrocytic (chronic haemolytic anemia)
R
- RASopathien, diverse
- RASopathies - NGS panel
- Refsum disease, NGS panel
- Renal cell carcinoma, papillary, 1, familial and somatic (c-Met protooncogene, Fumarate hydratase)
- Renal hypodysplasia/aplasia, NGS panel
- Retinitis pigmentosa, NGS panel
- RETT syndrome (RTT)
- RhD status, fetal, non-invasive from maternal blood
- Rubinstein-Taybi syndrome (RSTS1, RSTS2)
- RUNX1 mutation verification
- RUNX1-RUNX1T1 t(8;21) / AML1-ETO t(8;21)
- RUNX1-RUNX1T1 t(8;21)(q22;q22), quantitative / AML1-ETO
S
- Saethre-Chotzen syndrome (TWIST1)
- SARS-CoV-2 Whole genome sequencing
- Senior-Loken syndrome / juvenile nephronophthisis with Leber amaurosis, NGS panel
- Sensorineural non-syndrome hearing impairment - NGS panel
- Sensorineural non-syndrome hearing impairment (DFNB1) / Deafness, digenic GJB2/GJB6
- Septin-9 / Epi proColon® 2.0 (screening for bowel cancer)
- SETBP1 combined with atypical CML, CNL, CMML
- Short QT-Syndrom, NGS-Panel
- Short stature with nonspecific skeletal abnormalities (SNSK)
- Short stature, idiopathic familial - NGS panel
- SHOX-Deficiency (Leri-Weill and Langer syndrome, idiopathic hyposomia)
- Shwachman-Bodian-Diamond syndrome (SDS / SBDS)
- Sick sinus syndrome type 1 and 2
- Sideroblastic anemia, hereditary (delta-aminolevulinate synthase-2 ALAS2)
- Silver-Russell syndrome - NGS panel
- Silver-Russell syndrome (SRS)
- SLC26A2 associated disorders
- Smith-Magenis syndrome
- Sotos syndrome (NSD1)
- Sotos-Syndrom, NGS-Panel
- Spastic paraplegia (SPG), NGS panel
- Speech-language disorder-1
- Speech-language disorder-1
- Spherocytosis / hereditary spherocytosis
- Spherocytosis and Elliptocytosis, hereditary - NGS panel
- Stargardt disease / Macular dystrophy with flecks, NGS panel
- Stargardt disease, NGS panel
- Storage diseases, lysosomal - NGS panel
- Succinyl-CoA:3-oxoacid-CoA transferase deficiency (SCOT deficiency, OXCT1)
- Sulfotransferase 1A1
- Superoxide dismutase 2 (rs4880)
T
- Thanatophoric dysplasia (TD)
- Thin basement membrane nephropathy (TBMN, COL4A3 and COL4A4)
- Thiopurine S-methyltransferase deficiency
- Thoracic aortic aneurysm/ aortic dissection, NGS panel
- Thrombocythemia, essential
- Thrombocythemia, familial (hereditary disposition)
- Thyroid gland disorder by inactivating mutations of TSH receptor
- Torsion dystonia (Dystonia musculorum deformans)
- TP53 point mutation
- Transthyretin-related amyloidosis
- TRAPS (Tumor necrosis factor receptor-1-alpha associated periodic fever syndrome)
- Trio Whole Exome Sequencing /WES
- Triple-A-Syndrome
U
- UDP-glucuronosyltransferase, Crigler-Najjar syndrome, CN1 and CN2
- Uniparental disomy 14 (UPD14)
- Usher-Syndrom (Retinitis Pigmentosa und Schallempfindungs-Schwerhörigkeit), NGS-Panel
V
- VEXAS
- Vitamin K-Dependent Coagulation Defect
- Vitreoretinochoroidopathy - NGS panel
- Von Hippel-Lindau syndrome (VHL)
- von-Willebrand-Syndrom (VWS)
W
- Weaver-Syndrome
- Whole Exome Sequencing (WES)
- Williams-Beuren syndrome, WBS (MLPA)
- Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
- Wilson disease
- Wolf-Hirschhorn syndrome
Z
Mikrobiologie
Contact
Laboratoriumsmedizin Dortmund
44137 Dortmund
Materialannahme
Mo - Fr: 7.30 -17.00 Uhr
GFLiD Dispatch material and distribution
- +49 2306 94096-80
- +49 2306 94096-83
- http://www.gflid.de/
GFLiD Dispatch material, distribution, transport
Andreas Orwat
- +49 2306 94096-60
- +49 2306 94096-63
- http://www.gflid.de/