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

• 5-Oxoprolinase deficiency (OPLAHD, 5-Oxoprolinuria, OPLAH)

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)
• Hereditary alpha Tryptasemia (HaT)
• Alport-Syndrom (AS)
  • Alport syndrome, autosomal dominant (ADAS, COL4A3 and COL4A4)
  • Alport syndrome, autosomal recessive (ARAS, COL4A3 and COL4A4)
  • Alport syndrome, X-linked (XLAS, COL4A5)
• 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)
  • BCR-ABL t(9;22), Philadelphia-Translocation for CML and ALL, qualitative
  • BCR-ABL t(9;22), Philadelphia-Translocation for CML and ALL, quantitative
  • BCR-ABL, Sequencing of ABL for t(9;22) to verify secondary TKI-Resistance
• 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
• Carrier-Screening (as part of family planning)
• 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
  • CYP19A1 (Aromatase)
  • CYP1A2
  • CYP2B6
  • CYP2C19
  • CYP2C8
  • CYP2C9
  • CYP2D6
  • CYP2E1
  • CYP3A5
  • CYP4F2
  • Cytochromes P 450 (overview)

D

• Diabetes
  • Diabetes and deafness, maternally inherited (MIDD)
  • MODY (Maturity Onset Diabetes of the Young)
  • Neonatal diabetes mellitus (NDM) - NGS panel
  • Permanent neonatal diabetes mellitus (PNDM)
  • Transient neonatal diabetes mellitus type 1 (TNDM1)
• 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
• DNA Array
• 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

• Ehlers-Danlos Syndrome (EDS)
  • Ehlers-Danlos syndrome, Arthrochalasia (aEDS, formerly type VIIA & VIIB)
  • EDS, cardiac-valvular EDS (cvEDS)
  • EDS, classical-like EDS (clEDS)
  • Ehlers-Danlos syndrome, classical (cEDS, formerly EDS Type I and II)
  • Ehlers-Danlos syndrome, NGS panel
  • Ehlers-Danlos syndrome, vascular (formerly Type IV)
• 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
• Neurodevelopmental delay / NDD - 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
• ESR1 and PIK3CA Liquid Biopsy before ORSERDU® (Elacestrant) or Truqap® (Capivasertib) therapy - liquid biopsyy
• 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)
  • HLA types (A-, B-, C-Group)
  • HLA-DQ (HLA-DQA1, HLA-DQB1)
  • HLA-DRB1
• Homocystinuria (Cystathionine beta-synthase deficiency, CBS)
• Hearing loss
  • Diabetes and deafness, maternally inherited (see under "D")
  • Neurofibromatosis type 2 (see under "N")
  • Pendred syndrome (PDS) / DFNB4
  • Sensorineural non-hearing impairment (DFNB1) / Deafness, digenic GJB2/GJB6
  • Sensorineural non-syndrome hearing impairment - NGS panel
  • STRC single gene analysis (autosomal recessive hearing loss, DFBN16)
  • Syndromic hearing impairment - NGS panel
  • Usher syndrome (retinitis pigmentosa and congenital deafness) NGS panel
• 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) / Sitosterolemia (extended hypercholesterolemia panel)
• Hypercholesterolemia, familial (FH), frequent types - NGS panel
• Hyperferritinemia-cataract syndrome/ benign hyperferritinemia
• Hyperparathyroidism, neonatal severe (NSHPT)
• Hyperparathyroidism-jaw tumor syndrome, CDC73 (HRPT2)
• Hyperthyroidism, isolated (TSHR)
• Hypertriglyceridemia types
• Cardiomyopathy, familial hypertrophic, NGS panel
• Cardiomyopathy, familial hypertrophic
• Hypochondroplasia
• Hypogonadismus, hypergonadotroper
  • Hypergonadotropic hypogonadism: FSH receptor
  • Hypergonadotropic hypogonadism: LHCG receptor
• 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

• JAK2 mutations V617F and Exon 12-15
• Joubert syndrome, NGS panel

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)
• Ketone body - genetic testing
  • 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 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)
  • Achondrogenesis type 2 (ACG2, Langer-Saldino type)
  • Hypochondrogenesis (HCG)
  • Stickler syndrome, hereditary progressive arthroophthalmopathy - NGS panel
• Colorectal cancer / HNPCC/ Lynch syndrome, NGS panel
• Colorectal cancer, hereditary / HNPCC / Lynch syndrome
• Vitamin K-Dependent Coagulation Defect
• Craniosynostosis
• 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
  • Adrenoleukodystrophy
  • Leukodystrophy, late onset - NGS panel
  • Leukodystrophy, early onset - NGS panel
  • Leukodystrophy, metachromatic
• 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)
• 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
  • ATP-binding CASSETTE C2 (ABC transporter C2, MRP2)
  • Breast and ovarian cancer, hereditary - NGS panel
  • Breast carcinoma
  • 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
  • Migraine susceptibility, NGS panel
  • Migraine, familial hemiplegic - type 1-3 (FHM1-3)
  • Migraine, familial hemiplegic - NGS panel
• 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
  • 1. MODY3: HNF1A gene (HNF1A-MODY)
  • 2. MODY2: Glucokinase gene (GCK-MODY)
  • 3. MODY1: HNF4A gene (HNF4A-MODY)
  • 4. MODY5: HNF1B gene (HNF1B-MODY, Renal Cysts and Diabetes Syndrome, RCAD)
  • 5. MODY4: PDX1 gene (PDX1-MODY)
• 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
  • Spinal muscular atrophy, early onset, NGS panel
  • Spinal muscular atrophy, SMA1-4
  • Spinal muscular atrophy, adult onset - NGS panel
  • Spinal Muscular Atrophy, Late-Onset, Finkel Type; SMAFK
  • Spinobulbar muscular atrophy (Kennedy´s Disease, SBMA)
• 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
  • Neuropathy, hereditary motor and sensory (HMSN/CMT) - NGS panel
  • Neuropathy, hereditary motor and sensory (HMSN) / Charcot Marie Tooth disease (CMT), staged diagnostics
  • Small fiber neuropathy / SFN - NGS panel
• Neutropenie
  • Neutrophilia, hereditary
  • Cyclic neutropenia, Severe congenital neutropenia 1 (SCN1)
• Congenital anomalies of the kidney and urinary tract / CAKUT - NGS panel
• Kidney disease, tubulointerstitial autosomal dominant/ADTKD - NGS panel
• Nierenerkrankungen, polyzystische
  • Kidney disease, polycystic type I/II
  • Kidney disease, polycystic dominant / ADPKD - NGS panel
  • Kidney disease, polycystic recessive - NGS panel
• Renal hypodysplasia/aplasia, NGS panel
• Noonan syndrome / RASopathy
• NPM1 gene for nucleophosmin, qualitative
• NPM1 gene for nucleophosmin, quantitative
• Short stature with nonspecific skeletal abnormalities (SNSK)
• NRAS gene
• Nuclear mitochondriopathy, NGS panel

O

• Olaparib therapy - NGS panel ( BRCA1 and BRCA2 sequencing)
• Oligodontia-colorectal cancer syndrome
• OGM, mental retardation, dysmorphic features
• Optikus-Atrophien
  • Optic atrophy 1
  • Optic atrophy 3 with cataract
  • Optic atrophy 7
• Optic atrophy, nuclear type - NGS panel
• Organic anion transporter 1B1
• Osler-Rendu-Weber disease, NGS panel
• 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
• Peutz-Jeghers syndrome (PJS)
• Pfeiffer syndrome (FGFR1, FGFR2)
• Pheochromocytoma (PC)
• Phelan-McDermid syndrome
• Phenylketonuria (PKU), Phenylalanine hydroxylase deficiency
• Philadelphia chromosome
• 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
  • Porphyria: Coproporphyrinogen oxidase
  • Delta-aminolevulinate synthase ALAS2
  • Porphyria: Ferrochelatase
  • Porphyria: Porphobilinogen deaminase (Hydroxymethylbilane synthase/UROI synthase)
  • Porphyria: Protoporphyrinogen oxidase
  • Porphyria: Uroporphyrinogen decarboxylase
  • Porphyria, NGS panel
• 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
• ReNU syndrome
• Retardation, mental
  • Mental Retardation, X-linked 1, MRX1
  • Mental retardation X-linked / MRX - NGS panel
  • Mental retardation, autosomal dominant 33
  • Mental retardation, autosomal dominant - NGS panel
  • Mental retardation, autosomal recessive - 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)
• Thyroid gland disorder by inactivating mutations of TSH receptor
• Senior-Loken syndrome / juvenile nephronophthisis with Leber amaurosis, NGS panel
• 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
• Statin intolerance
• 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)

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

• Cone-rod dystrophy, NGS panel
• Zellweger syndrome / peroxisome biogenesis disorder, NGS panel
• ZNF198-FGFR1 Fusion gene
• Celiac disease