Test List

5-FU, fluorouracil, capecitabine (Xeloda), DPYD, DPD deficiency testing

Germany

AATD

Germany

Abacavir Therapy, HLA-B*57:01

Germany

Absence seizures

Germany

ACH

Germany

Achondroplasia

Germany

Acrocephalosyndactyly type I

Germany

Acrocephalosyndactyly type III

Germany

Acrocephalosyndactyly type V

Germany

Adventia carrier screening

Cyprus

Adventia: Comprehensive

Cyprus

Adventia: Core

Cyprus

Adventia: Focus Alpha Thalassemia

Cyprus

Adventia: Focus B-Haemoglobinopathies

Cyprus

Adventia: Focus Cystic Fibrosis

Cyprus

Adventia: Focus Dystrophinopathies

Cyprus

Adventia: Focus Fragile X Syndrome

Cyprus

Adventia: Focus Spinal Muscular Atrophy

Cyprus

Alagille syndrome

Germany

Alcohol intolerance

Germany

Aldolase B deficiency

Germany

ALGS

Germany

Alpha galactosidase A deficiency, GLA deficiency, Morbus Fabry

Germany

Alpha thalassaemia

Germany

Alpha-1 antitrypsin deficiency

Germany

Alport syndrome

Germany

Alström syndrome

Germany

Alzheimer disease

Germany

Amfira preimplantation genetic testing (PGT)

Cyprus

Amyotrophic lateral sclerosis (ALS)

Germany

Androgen insensitivity (AIS)

Germany

Angelman syndrome

Germany

Ankylosing spondylitis

Germany

Antithrombin deficiency

Germany

AOA

Germany

Apert syndrome

Germany

Arrhythmias and cardiomyopathies panel

Germany

Arrhythmias comprehensive panel

Germany

Arrhythmogenic cardiomyopathy (ACM)

Germany

Ataxia with oculomotor apraxia

Germany

Ataxias (without repeat expansion analysis)

Germany

Atrial fibrillation (AF)

Germany

Atrichia congenita with papular lesions

Germany

Atrichia with papular lesions (APL)

Germany

ATTRv amyloidosis

Germany

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)

Germany

Autoimmune polyglandular syndrome type 1, APS-1

Germany

Autosomal recessive non-syndromic hearing loss

Germany

Autosomal recessive primary microcephaly

Germany

Azathioprine (Imurek, Imuran), TPMT, NUDT15, thiopurine methyltransferase, TPMT test

Germany

Azoospermia factor (AZF) region of the Y chromosome

Germany

BAP1 tumour predisposition syndrome

Germany

Bardet–Biedl syndrome

Germany

Bartter syndrome

Germany

Basal cell naevus syndrome / Gorlin syndrome

Germany

BAV

Germany

BBS

Germany

BCNS, Nevoid basal cell carcinoma syndrome (NBCCS)

Germany

BD, Behçet syndrome

Germany

Behçet’s disease

Germany

Benign familial neonatal epilepsy

Germany

Best disease

Germany

Best vitelliform macular dystrophy

Germany

Beta thalassaemia

Germany

BHDS

Germany

Bicuspid aortic valve with risk of aortic valve stenosis and dilatation

Germany

Biotinidase deficiency

Germany

Birt-Hogg-Dubé syndrome

Germany

Bleeding disorders

Germany

Bone marrow failure syndromes

Germany

BORS, branchiootorenal spectrum disorder

Germany

Brain malformations

Germany

Branchio-oto-renal syndrome

Germany

BRCA1/2 – therapy guidance (PARP inhibitor response)

Germany

Breast Cancer

Germany

BrS

Germany

Brugada syndrome

Germany

BS

Germany

BTD deficiency

Germany

CADASIL/CARASIL

Germany

CAH, adrenogenital syndrome

Germany

Calcium release deficiency syndrome

Germany

Camzyos, CYP2C19, HOCM pharmacogenetics

Germany

Carbamazepin Therapy, HLA-B*15:02

Germany

Cardiac channelopathies

Germany

Cardiofaciocutaneous syndrome

Germany

Cardiology comprehensive panel

Germany

Cardiology Know&Manage

Germany

Cardiomyopathies comprehensive panel

Germany

Carnitine Cycle Defects

Germany

Carnitine palmitoyltransferase 1 A deficiency, CPT1A, CPT2, Carnitine-acylcarnitine translocase deficiency, CACT

Germany

Cataract

Germany

Catecholaminergic polymorphic ventricular tachycardia (CPVT)

Germany

CBL disorders, vitamin B12 metabolism disorders

Germany

CCA, Beals syndrome

Germany

CDC73-related disorders / hyperparathyroidism-jaw tumour syndrome (HPT-JT)

Germany

CdLS

Germany

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy / cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

Germany

Cerebral small vessel disease

Germany

CF; CFTR; mucoviscidosis, CFTR modulator therapy eligibility; Kaftrio, Alyftrek

Germany

CFC syndrome

Germany

Charcot-Marie-Tooth disease type 1A (CMT1A)

Germany

CHARGE syndrome

Germany

CHDs

Cyprus

Choreatic movement disorders (without repeat expansion analysis)

Germany

Chromosomal microarray analysis (CMA)

Null

Chylomicronaemia syndrome

Germany

Ciliopathies

Germany

CJD, genetic Creutzfeldt-Jakob Disease (gCJD)

Germany

Classic haemophilia, factor VIII deficiency

Germany

CLD

Germany

CLS

Germany

CMA, Array-CGH

Null

CNS

Germany

Cobalamin metabolism disorders

Germany

Coeliac disease

Germany

Coffin–Lowry syndrome

Germany

Coffin–Siris syndrome

Germany

Colorectal Cancer (CRC)

Germany

Combined T- and B-cell immunodeficiencies

Germany

Common variable immunodeficiency (CVID)

Germany

Cone–rod dystrophy

Germany

Congenital adrenal hyperplasia

Germany

Congenital agammaglobulinaemia

Germany

Congenital anomalies of the kidney and urinary tract (CAKUT)

Germany

Congenital bilateral absence of the vas deferens (CBAVD)

Germany

Congenital chloride diarrhoea

Germany

Congenital chloride-losing diarrhoea, CCLD

Germany

Congenital contractural arachnodactyly

Germany

Congenital disorders of glycosylation (CDG)

Germany

Congenital factor V deficiency

Germany

Congenital factor VII deficiency

Germany

Congenital heart defects comprehensive panel

Germany

Congenital lactase deficiency

Germany

Congenital myopathies

Germany

Congenital neutropenia

Germany

Congenital prothrombin deficiency

Germany

Connective tissue and aortic disorders

Germany

Core myopathies

Germany

Cornelia de Lange syndrome

Germany

Craniofacial dysostosis

Germany

Craniosynostosis

Germany

CRDS

Germany

Creutzfeldt-Jakob disease

Germany

Crigler-Najjar syndrome

Germany

Crouzon syndrome

Germany

Cryopyrin-associated periodic syndrome (CAPS)

Germany

CSS

Germany

CSVD

Germany

Cutis laxa

Germany

Cyclic neutropenia / severe congenital neutropenia 1

Germany

Cystic fibrosis (CF)

Germany

Cytochrome P450 pharmacogenetics; CYP1A2, CYP2B6, CYP2C9, CYP2C19, CYP2D6, CYP3A4, CYP3A5

Germany

Dementia

Germany

Dentatorubral pallidoluysian atrophy (DRPLA)

Germany

DICER1 syndrome

Germany

DICER1 tumour predisposition syndrome

Germany

Diffuse parenchymal lung disease

Germany

Dihyropyrimidine dehydrogenase deficiency, thymine-uraciluria

Germany

Dilated cardiomyopathy (DCM)

Germany

Disorder of sex development (46,XY-DSD)

Germany

Disorders of fatty acid oxidation

Germany

DMD, BMD

Germany

Dravet syndrome

Germany

Duchenne and Becker muscular dystrophy

Germany

Dystonia

Germany

Dystrophia myotonica, Steinert disease

Germany

Early infantile epileptic encephalopathy

Germany

Early Infantile Epileptic Encephalopathy (EIEE), Developmental and Epileptic Encephalopathies (DEEs),

Germany

Early repolarisation syndrome

Germany

Early-onset Alzheimer disease

Germany

Early-onset primary osteoporosis, EOOP

Germany

Early-onset severe retinal dystrophy, EOSRD

Germany

ebiom

Germany

ebiom+

Germany

ebiomCE

Germany

Ectopia lentis

Germany

EDMD

Germany

EDS

Germany

EFMR, PCDH19 clustering epilepsy

Germany

Ehlers-Danlos syndrome

Germany

Eliglustat, Cerdelga, CYP2D6, CYP2D6 metaboliser status

Germany

Emery–Dreifuss muscular dystrophy

Germany

Endocrine tumour predisposition panel

Germany

Endometrial Cancer

Germany

Endometrial microbiome analysis

Germany

EOAD, early-onset familial Alzheimer disease (EOFAD)

Germany

Epilepsy comprehensive panel

Germany

Epilepsy with febrile seizures plus (GEFS+)

Germany

Epilepsy – therapy-relevant panel

Germany

Episodic ataxia

Germany

Episodic ataxia (EA)

Germany

ERS

Germany

Evartia: Metabolic Test

Null

Eye disorders comprehensive panel

Germany

FA

Germany

Fabry disease

Germany

Factor II deficiency

Germany

Factor V deficiency

Germany

Factor V Leiden, 20210G-A mutation in prothrombin

Germany

Factor VII deficiency

Germany

Factor X deficiency

Germany

Factor XI deficiency

Germany

Factor XII deficiency

Germany

Factor XIII deficiency

Germany

Familial adenomatous polyposis (FAP) / MUTYH-associated polyposis (MAP)

Germany

Familial atypical multiple mole melanoma syndrome (FAMMM)

Germany

Familial chylomicronemia syndrome, FCS

Germany

Familial haemiplegic migraine

Germany

Familial hypercholesterolaemia

Germany

Familial hypobetalipoproteinaemia, FHBL

Germany

Familial hypocalciuric hypercalcaemia

Germany

Familial isolated pituitary adenoma / AIP-associated pituitary adenoma

Germany

Familial Mediterranean fever

Germany

Fanconi anaemia

Germany

FAOD, MCAD, VLCAD, LCHAD, MADD, TFP

Germany

Favism

Germany

FED

Germany

Female-restricted epilepsy with intellectual disability

Germany

Fetal rhesus factor determination

Germany

FH

Germany

FH tumour predisposition syndrome / hereditary leiomyomatosis and renal cell cancer (HLRCC)

Germany

FHH

Germany

FHM

Germany

FIPA, aryl-hydrocarbon receptor-interacting protein (AIP), AIP-FIPA

Germany

Fish eye disease (partial LCAT deficiency)

Germany

FMF

Germany

Focal epilepsy

Germany

ForeSENTIA Tumour Profile

Null

ForeSENTIA: Breast / Gynecological

Cyprus

ForeSENTIA: Colorectal

Cyprus

ForeSENTIA: Gene-Focused BRAF

Cyprus

ForeSENTIA: Gene-Focused EGFR

Cyprus

ForeSENTIA: Gene-Focused IDH1 & IDH2

Cyprus

ForeSENTIA: Gene-Focused KRAS & NRAS

Cyprus

ForeSENTIA: Gene-Focused PIK3CA & AKT1

Cyprus

ForeSENTIA: Glioma

Cyprus

ForeSENTIA: Lung (NSCLC)

Cyprus

ForeSENTIA: Melanoma

Cyprus

ForeSENTIA: Pan-Cancer Advanced

Cyprus

ForeSENTIA: Pan-Cancer Core

Cyprus

ForeSENTIA: Pan-Cancer Plus

Cyprus

ForeSENTIA: Prostate

Cyprus

Fragile X syndrome

Germany

Fragile X-associated primary ovarian insufficiency (FXPOI)

Germany

FRDA

Germany

Friedreich ataxia

Germany

FXS

Germany

GA1

Germany

Galactosaemia

Germany

Galactose-1-phosphate uridylyltransferase (GALT) deficiency

Germany

Galafold, GLA, alpha-galactosidase A, Morbus Fabry

Germany

Gastrointestinal Stromal Tumors (GIST)

Germany

Gaucher disease

Germany

GD

Germany

GD

Germany

Geleophysic dysplasia

Germany

Generalised myoclonic epilepsy

Germany

Gerstmann-Sträussler-Scheinker syndrome

Germany

Gilbert syndrome

Germany

Gitelman syndrome

Germany

Glioblastoma

Germany

Globoid cell leukodystrophy, GLD

Germany

Glucose transporter type 1 deficiency syndrome (GLUT1DS)

Germany

Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency)

Germany

Glutaric acidaemia type I

Germany

Glycogen storage disease type II (Pompe disease)

Germany

GNAS inactivation disorders / pseudopseudohypoparathyroidism

Germany

GS

Germany

GSS syndrome

Germany

Haemoglobinopathies

Germany

Haemophilia A

Germany

Haemophilia B

Germany

Hageman trait

Germany

Hall-Hittner syndrome , CHD7 disorder

Germany

HaT

Germany

Hb Bart’s hydrops fetalis syndrome, HbH disease

Germany

HBOC

Germany

HCRC

Germany

Hearing loss

Germany

Hepatorenal tyrosinaemia

Germany

Hereditary agammaglobulinaemia

Germany

Hereditary alpha-tryptasaemia

Germany

Hereditary angioedema

Germany

Hereditary autoinflammatory syndromes

Germany

Hereditary breast and ovarian cancer

Germany

Hereditary breast and ovarian cancer (HBOC)

Germany

Hereditary cancer comprehensive panel

Germany

Hereditary cancer Predict&Prevent

Germany

Hereditary central nervous system (CNS) tumour syndromes

Germany

Hereditary colorectal cancer

Germany

Hereditary colorectal cancer

Germany

Hereditary diffuse gastric cancer

Germany

Hereditary DPD deficiency (thymine–uraciluria)

Germany

Hereditary endocrine tumour syndromes

Germany

Hereditary endocrine tumours

Germany

Hereditary fructose intolerance

Germany

Hereditary gastrointestinal cancer

Germany

Hereditary gastrointestinal cancer syndromes

Germany

Hereditary haemochromatosis

Germany

Hereditary haemochromatosis – targeted analysis

Germany

Hereditary haemorrhagic telangiectasia

Germany

Hereditary multi-tumour syndromes

Germany

Hereditary nervous system / brain tumours

Germany

Hereditary neuropathies

Germany

Hereditary neuropathy with liability to pressure palsy

Germany

Hereditary pancreatic cancer syndromes

Germany

Hereditary papillary renal carcinoma

Germany

Hereditary PGL/PCC syndrome

Germany

Hereditary prostate cancer

Germany

Hereditary renal cell carcinoma

Germany

Hereditary skin tumour syndromes

Germany

Hereditary skin tumours

Germany

Hereditary spastic paraplegia

Germany

Hereditary spherocytosis

Germany

Hereditary transthyretin amyloidosis

Germany

Hereditary urological cancer

Germany

Heterotaxy

Germany

HFE-related hereditary hemochromatosis (HH)

Germany

HIGM

Germany

HLA-A*02:01

Germany

HNPP

Germany

Host resistance to HIV-1

Germany

HPP, alkaline phosphatase deficiency

Germany

HPRCC

Germany

HPX, "stiff-baby" syndrome, startle disease

Germany

HS, hereditary elliptocytosis (HE), hereditary pyropoikilocytosis (HPP)

Germany

HSP

Germany

Hyper-IgM syndrome

Germany

Hyperekplexia

Germany

Hyperlipidaemia

Germany

Hyperoxaluria

Germany

Hypertrophic cardiomyopathy (HCM)

Germany

Hypoalphalipoproteinaemia

Germany

Hypobetalipoproteinaemia

Germany

Hypogonadotropic hypogonadism, Kallmann syndrome

Germany

Hypoparathyroidism

Germany

Hypophosphataemia

Germany

Hypophosphatasia

Germany

Idiopathic pulmonary fibrosis (IPF)

Germany

Inherited bone marrow failure syndromes, IBMFS

Germany

Inherited kidney diseases

Germany

Inherited platelet disorders (IPDs)

Germany

Inherited thrombocytopenias (IT), immune thrombocytopenia (ITP)

Germany

Interstitial lung disease (ILD)

Germany

Intracerebral haemorrhage

Germany

Irinotecan (Campto, Camptosar; liposomal Onivyde), UGT1A1, UGT1A1 genotyping

Germany

Isovaleric acidaemia

Germany

Isovaleryl-CoA dehydrogenase deficiency

Germany

Jeune / short rib-polydactyly syndrome, SRTD

Germany

JME, Janz syndrome

Germany

Joubert syndrome

Germany

JPS

Germany

JS

Germany

Juvenile polyposis syndrome

Germany

Kabuki syndrome

Germany

Kidney agenesis / dysgenesis

Germany

Krabbe disease

Germany

Lactose intolerance (adult-onset)

Germany

Late-onset Alzheimer disease

Germany

lcWGS

Null

LDS

Germany

Leber congenital amaurosis (LCA)

Germany

Leber hereditary optic neuropathy (LHON)

Germany

Lecanemab (Leqembi), APOE, ApoE ε4 genotyping, ApoE ε4 status

Germany

Lecithin-cholesterol acyltransferase (LCAT) deficiency

Germany

Left ventricular non-compaction cardiomyopathy (LVNC)

Germany

Leri-Weill dyschondrosteosis (LWD), pseudoautosomal region 1 (PAR1)

Germany

Leucocyte adhesion deficiency and related disorders

Germany

Leukocyte adhesion deficiency

Germany

Leukoencephalopathy and leukodystrophy

Germany

LFS

Germany

LFS, Lujan syndrome

Germany

LGMD

Germany

Li-Fraumeni syndrome

Germany

Limb-girdle muscular dystrophy (LGMD)

Germany

Loeys-Dietz syndrome

Germany

Long QT syndrome (LQTS)

Germany

Lower urinary tract obstruction (LUTO)

Germany

Lujan–Fryns syndrome

Germany

Lynch syndrome / hereditary non-polyposis colorectal cancer (HNPCC)

Germany

Lysinuric protein intolerance

Germany

Lysinuric protein intolerance, LPI

Germany

Macrocephaly

Germany

Macular dystrophy

Germany

Malignant Melanoma

Germany

Maple syrup urine disease (MSUD)

Germany

Marfan syndrome

Germany

Maturity-onset diabetes of the young (MODY)

Germany

Mayzent, CYP2C9, CYP2C9 genotyping

Germany

MCPH

Germany

Meckel-Gruber syndrome

Germany

MECP2 duplication syndrome

Germany

Meester-Loeys syndrome

Germany

Megacystis–microcolon–intestinal hypoperistalsis syndrome (MMIHS)

Germany

Metabolic myopathies

Germany

Metaphyseal chondrodysplasia type Schmid (MCDS)

Germany

Methylenetetrahydrofolate reductase deficiency

Germany

Methylmalonic aciduria

Germany

Meulengracht syndrome

Germany

Mevalonate kinase deficiency

Germany

MFMs

Germany

MFS

Germany

MH, RYR1, CACNA1S, ryanodine receptor, dihydropyridine receptor

Germany

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II)

Germany

Mitochondrial genome disorder panel

Germany

MKD, Hyper-IgD syndrome

Germany

MKS

Germany

MMA

Germany

Monogenic obesity

Germany

Morbus Bechterew, radiographic axial spondyloarthritis

Germany

Morbus Wilson

Germany

Mowat-Wilson syndrome

Germany

Moyamoya disease

Germany

MRLS

Germany

MTHFR deficiency

Germany

Mucopolysaccharidoses (MPS)

Germany

Mucoviscidosis

Germany

Muenke syndrome

Germany

Multiple endocrine neoplasia (MEN) syndromes

Germany

Multiple endocrine neoplasia type 1 (MEN1)

Germany

Multiple endocrine neoplasia type 2 (MEN2)

Germany

Multiple endocrine neoplasia type 4 (MEN4)

Germany

Muscular dystrophies

Germany

MWS

Germany

Myoclonus epilepsy with ragged-red fibres (MERRF)

Germany

Myofibrillar myopathies

Germany

Myotonic dystrophy type 1 (DM1)

Germany

Narcolepsy

Germany

Nemaline myopathy

Germany

Neonatal / early-onset spinal muscular atrophy and pontocerebellar hypoplasia

Germany

Neonatal severe hyperparathyroidism (NSHPT)

Germany

NeoThetis Liquid Biopsy

Cyprus

NeoThetis: Breast / Gynecological

Cyprus

NeoThetis: Colorectal

Cyprus

NeoThetis: Gastric

Cyprus

NeoThetis: Lung (NSCLC)

Cyprus

NeoThetis: Melanoma

Cyprus

NeoThetis: Pan-Cancer

Cyprus

NeoThetis: Pan-Cancer Plus

Cyprus

NeoThetis: Pancreatic

Cyprus

NeoThetis: Prostate

Cyprus

Nephrogenic diabetes insipidus (NDI)

Germany

Nephrolithiasis and nephrocalcinosis

Germany

Nephronophthisis

Germany

Nephrotic syndrome / focal segmental glomerulosclerosis (FSGS)

Germany

Neurofibromatosis type 2

Germany

Neuromuscular disorders comprehensive panel

Germany

NF2-related schwannomatosis

Germany

Niemann-Pick disease

Germany

Niikawa-Kuroki syndrome, Kabuki make-up syndrome

Germany

NLRP3-associated autoinflammatory diseases

Germany

Non-dystrophic myotonia and periodic paralysis

Germany

Non-invasive foetal RhD determination

Germany

Non-Small Cell Lung Cancer (NSCLC)

Germany

Noonan syndrome

Germany

Noonan syndrome with multiple lentigines (LEOPARD syndrome)

Germany

Norum disease

Germany

NPHP

Germany

OFD

Germany

OI, brittle bone disease

Germany

Oligozoospermia, cryptozoospermia, azoospermia

Germany

OncoSentia MRD test for NSCLC

Null

Optic atrophy

Germany

Oreana: Neonatal Screening

Null

Orofaciodigital syndrome

Germany

Osteogenesis imperfecta

Germany

Osteoporosis

Germany

Ovarian Cancer

Germany

Ovarian dysgenesis

Germany

Overgrowth syndromes

Germany

PA, propionyl-CoA carboxylase (PCC) deficiency

Germany

PADs

Germany

Paediatric global delay Define&Decide

Germany

Pancreatic Cancer

Germany

Pancreatitis

Germany

Parkinson disease

Germany

PD

Germany

PDE-ALDH7A1

Germany

PDS

Germany

Pendred syndrome

Germany

Periodic fever syndromes

Germany

Perrault syndrome

Germany

Peutz-Jeghers syndrome

Germany

Pfeiffer syndrome

Germany

PGx 5-fluorouracil

Germany

PGx abacavir

Germany

PGx anaesthesia and pain

Germany

PGx azathioprine

Germany

PGx carbamazepine

Germany

PGx cardiovascular

Germany

PGx CYP450 drug response

Germany

PGx cystic fibrosis

Germany

PGx Diagnostic Testing

Germany

PGx donanemab

Germany

PGx eliglustat

Germany

PGx irinotecan

Germany

PGx lecanemab

Germany

PGx malignant hyperthermia

Germany

PGx mavacamten

Germany

PGx metabolic syndrome

Germany

PGx migalastat

Germany

PGx neurology and psychiatry

Germany

PGx oncology

Germany

PGx paclitaxel

Germany

PGx preventive panel

Germany

PGx siponimod

Germany

PGx statin

Germany

PGx tamoxifen

Germany

PGx tebentafusp

Germany

Phenylketonuria (PKU)

Germany

Pheochromocytoma paraganglioma syndrome

Germany

Pitt-Hopkins syndrome

Germany

PJS, hamartomatous intestinal polyposis

Germany

Polycystic kidney disease (PKD)

Germany

Porphyrias

Germany

Postnatal genome-wide CNV analysis

Null

Prader-Willi syndrome

Germany

Premature ovarian failure (POI)

Germany

PreSENTIA Hereditary Cancer

Cyprus

PreSENTIA: Breast / Gynecological

Cyprus

PreSENTIA: Breast / Gynecological Guidelines-Based

Cyprus

PreSENTIA: Breast High-Risk

Cyprus

PreSENTIA: Colorectal

Cyprus

PreSENTIA: Colorectal High-Risk

Cyprus

PreSENTIA: Colorectal Non-Polyposis

Cyprus

PreSENTIA: Colorectal Polyposis

Cyprus

PreSENTIA: Familial Melanoma

Cyprus

PreSENTIA: Gastric

Cyprus

PreSENTIA: Gene-Focused BRCA1 & BRCA2

Cyprus

PreSENTIA: Myelodysplastic Syndrome / Leukemia

Cyprus

PreSENTIA: Pan-Cancer

Cyprus

PreSENTIA: Pancreatic

Cyprus

PreSENTIA: Paraganglioma / Pheochromocytoma

Cyprus

PreSENTIA: Parathyroid

Cyprus

PreSENTIA: Prostate

Cyprus

PreSENTIA: Renal

Cyprus

PreSENTIA: Skin (XP-Associated)

Cyprus

PreSENTIA: Thyroid

Cyprus

Primary antibody deficiencies

Germany

Primary ciliary dyskinesia (PCD)

Germany

Primary hypertriglyceridaemia

Germany

Progressive cardiac conduction disease (PCCD)

Germany

Propionic acidaemia

Germany

Prostate Cancer

Germany

Protein C deficiency

Germany

Protein S deficiency

Germany

Prune belly syndrome

Germany

Pseudoxanthoma elasticum

Germany

PTEN hamartoma tumour syndrome (PHTS)

Germany

PTHS

Germany

Pulmonary alveolar microlithiasis (PAM)

Germany

Pulmonary alveolar proteinosis

Germany

Pulmonary arterial hypertension (PAH)

Germany

PWS

Germany

PXE

Germany

Pyridoxine-dependent epilepsy

Germany

RASopathies

Germany

RCC

Germany

Renal tubular acidosis

Germany

Renal tubular dysgenesis

Germany

Restrictive cardiomyopathy (RCM)

Germany

Retinitis pigmentosa (RP)

Germany

Retinoblastoma

Germany

Rett syndrome

Germany

Robinow syndrome

Germany

Rodinia infertility

Cyprus

Rodinia: Female Infertility

Cyprus

Rodinia: Male Infertility

Cyprus

Rodinia: Thrombophilia & NAIT

Cyprus

RTD

Germany

RTS

Germany

RTT

Germany

Rubinstein–Taybi syndrome

Germany

Saethre-Chotzen syndrome

Germany

SCA

Germany

SCD

Germany

Schmid metaphyseal dysplasia

Germany

Schwannomatosis

Germany

Senior-Loken syndrome, SLS

Germany

Senior–Løken syndrome

Germany

Severe combined immunodeficiency, SCID, delayed or late-onset combined immunodeficiency, CID

Germany

Severe congenital neutropenia type 1, SCN1, ELANE-related neutropenia

Germany

Severe congenital neutropenia, SCN

Germany

Severe early-onset obesity (SEOO)

Germany

Severe myoclonic epilepsy of infancy, SMEI

Germany

SFN

Germany

SGS

Germany

Short QT syndrome (SQTS)

Germany

Short stature

Germany

Short-rib thoracic dysplasia with or without polydactyly

Germany

SHOX-associated short stature

Germany

Shprintzen-Goldberg syndrome

Germany

Shwachman-Bodian-Diamond Syndrome, SDS, SBDS

Germany

Shwachman-Diamond syndrome

Germany

Sickle cell disease

Germany

Sideroblastic anaemia

Germany

Sinus node disease

Germany

Sinus node dysfunction, SND, sick sinus syndrome, sinoatrial node dysfunction

Germany

Sitosterolaemia

Germany

SMA

Germany

SMA, PCH

Germany

SMA1-4, 5q-SMA

Germany

Small fibre neuropathy

Germany

Smith-Lemli-Opitz syndrome (SLOS)

Germany

Solid tumour comprehensive molecular profiling

Germany

Solid tumours Detect&Act

Germany

Sotos syndrome

Germany

Spastic ataxia

Germany

SPAX

Germany

Spermatogenic failure

Germany

Spinal muscular atrophy (SMA)

Germany

Spinal muscular atrophy (types I–III/IV)

Germany

Spinocerebellar ataxia (repeat expansion analysis)

Germany

Spinocerebellar ataxia (SCA)

Germany

Stargardt disease

Germany

Statin intolerance

Germany

Steroid-resistant nephrotic syndrome, SRNS

Germany

Stickler syndrome

Germany

STL

Germany

Structural brain anomalies, malfunctions of cortical development (MCD)

Germany

Syndromic deafness

Germany

Syndromic hearing loss

Germany

Tangier disease

Germany

TarCET aortopathy panel

Cyprus

TarCET arrhythmia panel

Cyprus

TarCET cardiac comprehensive panel

Cyprus

TarCET cardiomyopathy panel

Germany

TarCET carrier screening comprehensive panel

Null

TarCET carrier screening core panel

Null

TarCET congenital heart defects panel

Cyprus

TarCET FH, PH and RAS panel

Germany

TarCET hereditary cancer panel

Null

TarCET infertility panel

Null

TarCET metabolic panel

Null

TarCET neonatal panel

Null

TarCET PGT panel

Null

Taxol, Abraxane, CYP2C8, CYP2C8 genotyping

Germany

Tay-Sachs disease

Germany

TD

Germany

Thanatophoric dysplasia

Germany

Thoracic aortic aneurysm and dissection (TAAD)

Germany

Thrombocytopathies

Germany

Thrombocytopenia

Germany

Thrombophilia

Germany

Thrombophilia due to APC resistance (factor V Leiden thrombophilia)

Germany

Thrombophilia – APC resistance

Germany

Thrombophilia – common variants

Null

Thrombophilia – prothrombin defect

Germany

Thyroid Cancer

Germany

TNF receptor-1-associated periodic syndrome

Germany

Tuberous sclerosis complex (TSC)

Germany

Tubulointerstitial kidney disease

Germany

Tumour necrosis factor receptor-associated periodic syndrome (TRAPS)

Germany

Tumour predisposition syndromes

Germany

Tyrosinaemia type I

Germany

UCDs

Germany

Urea cycle disorders

Germany

Urofacial syndrome

Germany

Urothelial Cancer

Germany

USH

Germany

Usher syndrome

Germany

VCAN-related vitreoretinopathy

Germany

Ventrilia Cardiovascular Test

Cyprus

Ventrilia: Aortopathy

Cyprus

Ventrilia: Arrhythmia

Cyprus

Ventrilia: Cardiomyopathy

Cyprus

Ventrilia: Comprehensive

Cyprus

Ventrilia: Congenital Heart Defects

Cyprus

Ventrilia: Familial Hypercholesterolemia

Cyprus

Ventrilia: Pulmonary Hypertension

Cyprus

Ventrilia: Rasopathies

Cyprus

VERACITY: Non-Invasive Prenatal Tests

Null

VERAgene: NIPT & Single Gene Disorders Screening

Cyprus

VEXAS syndrome

Germany

VHL

Germany

von Hippel-Lindau syndrome

Germany

von Willebrand disease

Germany

von-Willebrand-Jürgens syndrome, VWD, von Willebrand factor, vWF

Germany

Waardenburg syndrome

Germany

Wagner syndrome type 1

Germany

Weaver syndrome

Germany

Weill-Marchesani syndrome

Germany

WFS

Germany

Whole exome sequencing (WES)

Null

Wilson disease

Germany

Wiskott-Aldrich syndrome (WAS)

Germany

WMS, spherophakia brachymorphia syndrome

Germany

Wolfram syndrome

Germany

X-linked agammaglobulinaemia

Germany

X-linked hypophosphataemia, XLH

Germany

X-linked intellectual developmental disorder, Lubs type (MRXSL)

Germany

X-linked lymphoproliferative syndrome type 1 (XLP1)

Germany

X-linked severe combined immunodeficiency (X-SCID)

Germany

XLA

Germany

Y chromosome infertility

Germany