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
- 17-beta-hydroxysteroid dehydrogenase X deficiency (2-methyl-3-hydroxybutyryl-CoA dehydrogenase
- Chromosome 1p36 deletion syndrome
2
- 2-methylacetoacetyl-CoA thiolase deficiency (beta-ketothiolase/3-oxothiolase deficiency, MAT/T2 deficiency, 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
- Abacavir hypersensitivity / HLA-B histocompatibility type
- Achondrogenesis type 1B (ACG1B, SLC26A2)
- Achondroplasia
- Myeloid, atypical chronic myelogenic leukemia, chronic neutrophilic leukemia, NGS panel
- Aceruloplasminemia
- Acrodermatitis enteropathica
- Obesity, NGS panel
-
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
- Congenital adrenal hyperplasia, NGS panel
- Adrenogenital syndrome, POR deficiency POR deficiency, disordered steroidogenesis due to cytochrome P450 oxidoreductase
- Acromesomelic dysplasia type Maroteaux
- Oculocutaneous Albinism, 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 / Myeloid, acute myeloid leukemia - prognostic panel 1, NGS
- AML / Myeloid, acute myeloid leukemia - panel 2 other therapeutic options, NGA panel
- AML / Myeloid, acute myeloid leukemia - panel 3 sensitive for sAML and prognostic, NGS panel
- Amyotrophic lateral sclerosis / ALS , NGS panel
- Androgen receptor (DHTR)
- Angelman syndrome (AS)/ Happy puppet syndrome
- Angelman syndrome, Happy Puppet syndrome
- Angioedema, hereditary , type I, II, III (Coagulation factor XII)
- Aniridia
- Antithrombin III deficiency (AT3D)
- Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- Apert syndrome (FGFR2)
- Apolipoprotein B-100, familial defective (APO-B100, FDB)
- Apolipoprotein E
- Arachnodactyly, contractural congenital (CCA, Beals syndrome)
- Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
- Arrhythmogenic right ventricular cardiomyopathy (ARVD), NGS panel
-
Ataxia
- Ataxia with oculomotor apraxia, NGS panel
- ataxia, episodic / EA, NGS panel
- Ataxia, episodic type 1/ Myokymia syndrome
- Spinocerebellar Ataxia, autosomal recessive / SCAR - NGS panel
- Friedreich ataxie, 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
- Atelosteogenesis type 2 (AO2, SLC26A2)
- Butyrylcholinesterase deficiency (BCHE, Pseudocholinesterase)
- Atypical Rett Syndrome (atypical RTT)
- Autism spectrum disorder / ASD, NGS panel
- Autoimmune polyendocrinopathy syndrome , type I (AIRE)
- AZF deletions (microdeletions Y-linked)
- Acidosis, distal renal tubular (dRTA)
B
- Lymphoid, chronic lymphocytic leukemia, prognostic NGS panel
- 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 syndrome (Spondyloarthropathy)
- Beckwith-Wiedemann syndrome / BWS - NGS panel
- Beckwith-Wiedemann syndrome (BWS)
- Bethlem myopathy, NGS panel
- Blau syndrome (BS)/early-onset sarcoidosis (EOS)
- BRAF mutations in solid tumors (V600E)
- Brugada Syndrome, NGS panel
- Bruton agammaglobulinemia tyrosine kinase, X-linked
C
- CADASIL / Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, NGS panel
- Calreticulin mutations (CALR)
- CARASIL syndrome
- Carboxylesterase 1 deficiency
- Catechol-O-methyltransferase
- CBFB-MYH11 inv(16)
- CBFB-MYH11 inv(16) fusion type A
- CCAAT / enhancer-binding protein, alpha (CEBPA)
- Chronische myeloische Leukämie, Mutationssuche BCR-ABL
- Chronic neutrophilia caused by heterozygous mutation in the CSF3R gene
- CINCA syndrome / NOMID syndrome
- Chronic lymphoblastic leukemia (B cell): prognostic markers IGHV, TP53, SF3B1, NOTCH1
- Clouston syndrome (Hidrotic ectodermal dysplasia 2, HED2)
- Myeloid, chronic myelomonocytic leukemia: core panel diagnostic and prognostic, NGS
- Cornelia de Lange syndrome / CDLS, NGS panel
- Costello syndrome (HRAS)
- Cowden Syndrome 6
- Cri-du-chat syndrome
- Crigler-Najjar syndrome (Type1, CN1; Type2, CN2)
- Cold-induced sweating syndrome, CISS
- Crohn disease
- Crouzon syndrome (FGFR2)
- Crouzon syndrome with acanthosis nigricans (CAN)
- Coumarin resistance
- Cumarin-Sensitivity
- Cystic fibrosis (CF) / Mucoviscidosis
- Cytochrom P 450
D
- Diabetes
- Diastrophic dysplasia (DTD, SLC26A2)
- DiGeorge syndrome screening, Velocardiofacial syndrome (VCFS)/ Shprintzen syndrome (MLPA)
- Dihydropyrimidine dehydrogenase deficiency (DPD), 5-fluorouracil toxicity
- Dilated cardiomyopathy /DCM, NGS panel
- Array-CGH, mental retardation, dysmorphic features
-
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
- ABCC2 for Dubin-Johnson syndrome
- Thin basement membrane nephropathy (TBMN, COL4A3 and COL4A4)
- Dyskinesia, primary ciliary / PCD
- Dyskinesia, primary ciliary / PCD - NGS panel
- Dystonia, NGS panel
E
- EGFR mutations in solid tumors for non-small cell lung cancer
- Ehlers-Danlos Syndrome (EDS)
- Hereditary Inclusion body myopathy 2
- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
- Iron refractory iron deficiency anemia (IRIDA)
- Elliptocytosis (HE) / Pyropoikilocytosis (HPP), hereditary
- Endometrial cancer, hereditary - NGS panel
- Eosinophiliediagnostik
-
Epilepsies
- Benign familial neonatal seizures (BFNS), NGS panel
- Benign neonatal familial epilepsy type 1 and 2
- Early infantile epileptic encephalopathy, severe myoclonic epilepsy of infancy, Dravet syndrome - 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
- Early infantile epileptic encephalopathy 11 / EIEE11
- Early infantile epileptic encephalopathy / EIEE - NGS panel
- Early infantile myoclonic epilepsy
- Erythrocytosis, familial
- Erythrocytosis, isolated
- ETV6-PDGFRB fusion gene
F
- Fabry disease (Alpha-galactosidase A deficiency)
- Factor V Leiden
- Factor VII deficiency, hereditary
- Factor XII (F12) deficiency (Hageman factor deficiency or Hageman trait)
- FGFR3 mutations
- Fever syndrome, hereditary - NGS panel
- FIP1L1/PDGFRA fusion gene (microdeletion 4q12)
- Floating-Harbour syndrome (FHS)
- FLT3 gene: FMS-related tyrosine kinase 3, qualitative
- Fragile X syndrome (FRAXA)
- Frontotemporal dementia (FTD, Pick disease)
- Fructose-1,6-bisphosphatase deficiency
- Fructose intolerance, hereditary (HFI)
G
- Galactosemia (Galactose-1-phosphate-uridyltransferase deficiency)
- Gastrointestinal stromal tumors (GIST), familial
- Gaucher disease
- Flecked retina syndromes - NGS panel
- Whole Exome Sequencing (WES)
- Primary open angle glaucoma (POAG), adult onset - NGS panel
- Primary open angle glaucoma (POAG) juvenile onset - NGS panel
- Gliedergürteldystrophie oder Gliedergürtel-Muskeldystrophien
- 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 XIV
- Glycoprotein Ia deficiency (Integrin, Alpha-2)
- Congenital disorder of glycosylation / CDG - NGS panel
- Overgrowth syndromes, NGS panel
H
- Hairy cell leukemia, BRAF mutations (V600E, V600D, V600K)
-
Hämochromatose, hereditäre
- Hemochromatosis, hereditary (NGS panel)
- Hemochromatosis, hereditary (staged diagnostics)
- Hemochromatosis, hereditary: Type 1, adult form (most common mutations HFE C282Y and H63D)
- 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)
- Haemoglobinopathies, various
- Congenital urea cycle defects - NGS panel
- Hermansky-Pudlak syndrome /HPS, NGS panel
- Heart defects, congenital - 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)
- Hypercholesterolemia, familial (FH) - single gene analysis
- Hypercholesterolemia, familial (FH), NGS panel
- Hyperferritinemia-cataract syndrome/ benign hyperferritinemia
- Hyperparathyroidism, neonatal severe (NSHPT)
- Hyperparathyroidism-jaw tumor syndrome, CDC73 (HRPT2)
- Hyperthyroidism, isolated (TSHR)
- Hypertriglyceridemia types I, V, IB and ID
- Cardiomyopathy, familial hypertrophic, NGS panel
- Cardiomyopathy, familial hypertrophic
- Hypochondroplasia
- Hypogonadismus, hypergonadotroper
-
Hypogonadismus, hypogonadotroper
- 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
- Hypercalcemia, autosomal dominant (ADH) / familial isolated hypoparathyroidism (FIH)
- Hypocalciuric hypercalcemia, familial (FHH) / Hypercalcemia, familial benign (FBH)
- Hypophosphatemic Rickets
- Hypophosphatasia
- Pituitary adenomas, familial (AIP)
- Pituitary hormone deficiency, hypopituitarism, panhypopituitarism - NGS panel
I
- Bruton agammaglobulinemia tyrosine kinase, resistance to dasatinib
- IGHV-Status as prognosis marker for CLL
- Irinotecan-intolerance
J
K
- Kabuki syndrome - NGS panel
- Cold urticaria, familial (FCU)
- Calcium-sensing receptor mutations (CASR)
- Cardiofaciocutaneous syndrome (CFC syndrome: BRAF, MAP2K1, MAP2K2, KRAS)
- Cataract, hereditary - NGS panel
- Catecholaminergic polymorphic ventricular tachycardia / CPVT, NGS panel
- Catecholaminergic Polymorphic Ventricular Tachycardia
- Keratitis-ichthyosis-deafness syndrome (KID syndrome) / Hystrix-like-ichthyosis-deafness-syndrome (HID-syndrome)
- Ketogenesis disorders, NGS panel
- Ketolysis disorders, NGS panel
- Analysis of disorders affecting ketone body metabolism and selected other metabolic disorders, NGS panel
- Disorders of ketone body metabolism, NGS panel
- Analysis of ketone body metabolism/glycogen storage diseases and selected other metabolic disorders, NGS panel
- KIT mutations in Gastrointestinal stromal tumors (GIST)
- KIT mutations verification in the case of AML
- Short stature, idiopathic familial - NGS panel
- Immunoglobulin heavy chains variable gene cluster, IGHV
- Clonality verification T-cell receptor, beta and gamma chain (TCRB, TCRG)
- Collagenopathies, type 2 (COL2A1)
- Colorectal cancer / HNPCC/ Lynch syndrome, NGS panel
- Colorectal cancer, hereditary / HNPCC / Lynch syndrome
- Vitamin K-Dependent Coagulation Defect
- Craniosynostosis
- KRAS mutations in solid tumors
- Creatine deficiency - NGS Panel
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
- LDL receptor defect
- LDLRAP1 mutations (Autosomal recessive hypercholesterolemia, ARH)
- Leber hereditary optic atrophy/neuropathy (LHON)
- Leber congenital amaurosis (LCA), 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 receptor deficiency
- Leptin deficiency, congenital
- Leukodystrophy
- Large granular lymphocytic leukemia, T-LGL and NK-LGL: STAT3 mutations
- Li-Fraumeni syndrome
- Left ventricular noncompaction / LVNC, NGS panel
- Lipodystrophy, familial partial - Dunnigan type
- Lipodystrophy, congenital generalized - NGS panel
- Lissencephaly, NGS panel
- Loeys-Dietz syndrome (LDS) Typ I / Typ II
- Long QT Syndrome, NGS panel
- Lymphoid, unclear disease entity - NGS panel
M
- Gastric cancer, hereditary - NGS panel
- Gastric cancer, familial diffuse (E-Cadherin)
- Macrocephaly, NGS panel
- Malignant hyperthermia, NGS panel
- Malouf syndrome
- Breast and ovarian cancer
- Marfan syndrome
- Mastocytosis
- Myeloid, myeloproliferative neoplasia, systemic mastocytosis SM, AHN panel, NGS
- Myeloid, myeloproliferative neoplasia, systemic mastocytosis SM, prognostic panel small, 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, myelodysplastic syndrome MDS diagnostic, NGS panel
- Myeloid, myelodysplastic syndrome MDS - prognostic markers, NGS panel
- Myeloid, myelodysplastic syndrome MDS, markers with therapeutic relevance, NGS panel
- Meckel Syndrome / MKS, NGS panel
- Medium chain Acyl-CoA dehydrogenase deficiency (MCADD)
- 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 (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) - NGS panel
- Metabolische Myopathie, NGS-Panel
- MTHFR (5,10-Methylenetetrahydrofolate reductase deficiency)
- Gilbert syndrome / Meulengracht disease
- Migräne
- Mikrophthalmie-Anolphthalmie-Kolombom-Komplex / MAC, NGS-Panel
- Microcephaly (MCPH5)
- Microcephaly, NGS panel
- Miller-Dieker lissencephaly syndrome (MDLS)
- Mitochondrial hepatic encephalomyopathy, NGS panel
- Mitochondrial cardiomyopathy, NGS panel
- Complete mitochodrial genome, NGS panel
- Mediterranean fever, familial (FMF)
- 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 (Maturity Onset Diabetes of the Young), NGS panel
- Methylation analysis of promoter methylation status of DNA-Mismatch-Repeair genes MLH1, MLH3, MSH2, MSH3, MSH6, MGMT and PMS2 in suspected HNPCC/Lynch-Syndrome
- Monocarboxylate transporter 1 deficiency (MCT1 deficiency, SLC16A1)
- Glycogen Storage Disease II, GSD2
- Stargardt disease, NGS panel
- MPL mutations cause congenital amegakaryocytic Thrombocytopenia CAMT
- MPL mutations in the case of thrombocytopenia or myelofibrosis
- Myeloid, myeloproliferative neoplasia, NGS panel 1
- Myeloid, myeloproliferative neoplasia, extended diagnosis panel, NGS panel 2
- Myeloid, myeloproliferative neoplasia, extended prognostic panel, NGS
- MSI - Microsatelliteinstability of a colorectal cancer
- Muckle-Wells syndrome (MWS)
- Muenke syndrome
- Mucopolysaccharidosis, 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)
- Muscular dystrophy, limb-girdle 1A-F, 2A-R (LGMD1A-F, LGMD2A-R)
- Muscular dystrophy type Duchenne (DMD) or Becker (BMD)
- Muscular dystrophy, NGS panel
- Myotonic dystrophy type 1 (DM1, Steinert disease)
- Myotonic dystrophy type 2 (DM2, PROMM)
- Oculopharyngeal muscular dystrophy (OPMD)
- Limb girdle muscular dystrophy Type 1C (LGDM 1C)
- Myasthenic syndrome, myasthenia - NGS panel
- 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
- Myelofibrosis
- Myeloid, unclear disease entity, NGS panel
- Myeloid neoplasias (AML, CMML, MDS, MPN) - mutation screening
- 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)
- Narcolepsy
- Neonatal apneas, NGS panel
- Nephrogenic diabetes insipidus (NDI) X-linked
- Nephrotic syndrome, hereditary - NGS panel
- Neurodegeneration with brain iron accumulation (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)
- Neuropathies
- Neutropenie
- Congenital anomalies of the kidney and urinary tract / CAKUT - NGS panel
- Kidney disease, tubulointerstitial autosomal dominant/ADTKD - NGS panel
- Nierenerkrankungen, polyzystische
- Renal hypodysplasia/aplasia, NGS panel
- Noonan syndrome (PTPN11, SOS1, RAF1, KRAS, BRAF, RIT1)
- NPM1 gene for nucleophosmin, qualitative
- NPM1 gene for nucleophosmin, quantitative
- Short stature with nonspecific skeletal abnormalities (SNSK)
- NRAS gene
- NRAS mutations in solid tumors
- Nuclear mitochondriopathy, NGS panel
O
- Olaparib therapy - NGS panel ( BRCA1 and BRCA2 sequencing)
- Oligodontia-colorectal cancer syndrome
- Optikus-Atrophien
- Optic atrophy, nuclear type - NGS panel
- Organic anion transporter 1B1
- Osler-Rendu-Weber disease (ENG, ACVRL1)
- Osteogenesis imperfecta (OI)
- Ovalocytosis, southeast asian (SAO)
- Ovarian cancer
P
- Pancreatic cancer, hereditary - NGS panel
- Pancreatic cancer, excretory
- Pancreatitis, chronic idiopathic pancreatitis predisposition
- Pancreatitis, hereditary / PCTT, NGS panel
- Pantothenate kinase-associated neurodegeneration (PKAN, NBIA1, PANK2)
- Renal cell carcinoma, papillary, 1, familial and somatic (c-Met protooncogene, Fumarate hydratase)
- Paraganglioma / Pheochromocytoma, NGS panel
- Pheochromocytoma / Paraganglioma syndrome PGL1, PGL3 and PGL4
- Paraoxonase 1
- Parkinson disease - NGS panel
- PCSK9 Mutations (FH Type 3, FH3) / Hypercholesterolemia, familial
- PDGFRA mutations from gastrointestinal stromal tumors (GIST)
- Pendred syndrome (PDS) / DFNB4
- Peutz-Jeghers syndrome (PJS)
- Pfeiffer syndrome (FGFR1, FGFR2)
- Pheochromocytoma (PC)
- Phelan-McDermid syndrome
- Phenylketonuria (PKU), Phenylalanine hydroxylase deficiency
- Philadelphia chromosome
- Phosphateidylinositol-3-Kinase (PIK3CA) Mutation analysis (Ex 11 and 22)
- Plasminogen activator inhibitor-1 promotorpolymorphism 4G/5G (PAI1)
- Plasminogen activator inhibitor type 1 (PAI-1) deficiency
- PML/RAR alpha t(15;17)
- PML/RAR alpha t(15;17) quantitative, L type (BCR1), S type (BCR3) and V type (BCR2)
- AA / myeloid, Aplastic Anemia - prognostic and therapeutic markers, NGS panel
- Myeloid, myeloproliferative neoplasia, polycythemia vera - prognostic panel, NGS
- Polycythemia vera (PV)
- Polyposis coli, familial adenomatous (FAP, AFAP)
- Polyposis coli, familial attenuated type, MUTYH-associated (MAP, AFAP)
- Polyposis coli, (attenuated) familial adenomatous (FAP, AFAP) - NGS panel
- Polycystic liver disease, NGS panel
- Pontine and cerebellar hypoplasia, NGS panel
- Porphyria
- Potocki-Lupski syndrome
- Prader-Willi syndrome (PWS)
- Premature ovarian failure (POF), NGS panel
- Primary coenzyme Q10 deficiency (COQ10D), NGS panel
- Primary localized cutaneous amyloidosis, hereditary (OSMR mutations)
- Prion diseases, familial (PRNP)
- Progressive familial intrahepatic cholestasis, NGS panel
- Proopiomelanocortin deficiency
- Protein C mutations
- Protein S mutations
- Proteus Syndrome, somatic
- Prothrombin (coagulation factor II) mutation
- Pseudoachondroplasia (PSACH)
- PTEN hamartoma tumor syndrome
- Pulmonary arterial hypertension, NGS panel
- Pyruvat kinase, erythrocytic (chronic haemolytic anemia)
R
- RASopathies, diverse
- RASopathies - NGS panel
- Refsum disease, NGS panel
- Retardation, mental
- 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
- Thyroid gland disorder by inactivating mutations of TSH receptor
- Senior-Loken syndrome / juvenile nephronophthisis with Leber amaurosis, NGS panel
- Sensorineural non-syndrome hearing impairment (DFNB1) / Deafness, digenic GJB2/GJB6
- Sensorineural non-syndrome hearing impairment - NGS panel
- Septin-9 / Epi proColon® 2.0 (screening for bowel cancer)
- SETBP1 combined with atypical CML, CNL, CMML
- Short QT syndrome (SQT), 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 (SRS)
- Silver-Russell syndrome - NGS panel
- SLC26A2 associated disorders
- Smith-Magenis syndrome
- Sotos syndrome (NSD1)
- Sotos syndrome, NGS panel
- Spastic paraplegia (SPG), NGS panel
- Storage diseases, lysosomal - NGS panel
- Spherocytosis / hereditary spherocytosis
- Spherocytosis and Elliptocytosis, hereditary - NGS panel
- Speech-language disorder-1
- Stargardt disease / Macular dystrophy with flecks, NGS panel
- Succinyl-CoA:3-oxoacid-CoA transferase deficiency (SCOT deficiency, OXCT1)
- Sulfotransferase 1A1
- Superoxide dismutase 2 (rs4880)
T
- Thanatophoric dysplasia (TD)
- Thiopurine S-methyltransferase deficiency
- Thoracic aortic aneurysm/ aortic dissection, NGS panel
- Thrombocythemia, essential
- Myeloid, myeloproliferative neoplasia, essential thrombocythemia ET - prognostic panel, NGS
- Thrombocythemia, familial (hereditary disposition)
- Torsion dystonia (Dystonia musculorum deformans)
- TP53 point mutation
- 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); Limb-mam
- TRAPS (Tumor necrosis factor receptor-1-alpha associated periodic fever syndrome)
- Trio Whole Exome Sequencing / WES
- Triple-A-Syndrome
- Transthyretin-related amyloidosis
- Malignant solid tumors - therapy planning, NGS panel
- Cancer predisposition, hereditary - NGS panel
- Cancer predisposition, hereditary - XXL NGS panel
U
- UDP-glucuronosyltransferase, Crigler-Najjar syndrome, CN1 and CN2
- Uniparental disomy 14 (UPD14)
- Usher syndrome (retinitis pigmentosa and congenital deafness) NGS panel
V
- Speech-language disorder-1
- VEXAS
- Myeloid, unclear disease entity, NGS panel
- Vitreoretinochoroidopathy - NGS panel
- Von Hippel-Lindau syndrome (VHL)
- Von Willebrand disease (VWD)
- Atrial Fibrillation, familial
W
- Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
- Macroglobulinemia, Waldenstrom, somatic LPL, IgM MGUS; MYD88 mutations
- Weaver-Syndrome
- Williams-Beuren syndrome, WBS (MLPA)
- Wilson disease
- Odontoonychodermal dysplasia, Schopf-Schulz-Passarge syndrome, Tooth agenesis, selective, 4
- 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/