EXPLORE DISEASES AND INDICATIONS
We offer genetic testing for different life stages and predictive and diagnostic testing.
Select one of our test categories below to learn more.
Breast and ovarian cancer BRCA1, BRCA2
Breast and ovarian cancer core panel
Breast and ovarian cancer extended panel
Colon cancer core panel
Colon cancer extended panel
Comprehensive hereditary cancer panel
Endocrine tumors
Fanconi anemia
Gastrointestinal tumors
Kidney cancers
Nervous system/brain tumors
Pancreatic tumors
Prostate cancer
Skin tumors
Unspecific tumor syndromes
PreSENTIA BRCA1 / BRCA2 panel
PreSENTIA breast / gynecological cancer panel
PreSENTIA breast / gynecological guidelines-based panel
PreSENTIA breast high risk panel
PreSENTIA colorectal cancer panel
PreSENTIA colorectal high-risk cancer panel
PreSENTIA colorectal non-polyposis cancer panel
PreSENTIA colorectal polyposis syndrome cancer panel
PreSENTIA familial melanoma cancer panel
PreSENTIA gastric cancer panel
PreSENTIA myelodysplastic syndrome / leukemia cancer panel
PreSENTIA pan-cancer panel
PreSENTIA pancreatic cancer panel
PreSENTIA paraganglioma / pheochromocytoma cancer panel
PreSENTIA parathyroid cancer panel
PreSENTIA prostate cancer panel
PreSENTIA renal cancer panel
PreSENTIA skin (xp-associated) cancer panel
PreSENTIA thyroid cancer panel
ForeSENTIA BRAF panel
ForeSENTIA breast-gynecological panel
ForeSENTIA colorectal panel
ForeSENTIA EGFR panel
ForeSENTIA glioma panel
ForeSENTIA IDH1 & IDH2 panel
ForeSENTIA KRAS & NRAS panel
ForeSENTIA lung (NSCLC) panel
ForeSENTIA melanoma panel
ForeSENTIA pan-cancer panel
ForeSENTIA pan-cancer plus panel
ForeSENTIA PIK3CA & AKT1 panel
ForeSENTIA prostate panel
Alpha thalassemia
Antithrombin deficiency (ATIII deficiency), hereditary
Beta thalassemia
Bleeding disorders
Elliptocytosis, hereditary
Factor II deficiency
Factor V deficiency
Factor XIII deficiency
Hemoglobinopathies
Hemophilia A
Hemophilia B
Protein C deficiency
Protein S deficiency
Pyropoikilocytosis
Sickle cell disease
Sideroblastic anemia
Spherocytosis, hereditary
Telangiectasia, hereditary hemorrhagic (Osler disease)
Thrombophilia
Von Willebrand disease
Alagille syndrome
Aortic disorders panel
Arrythmias & cardiomyopathies panel
Arrythmogenic right ventricular cardiomyopathy (ARVC)
Atrial fibrillation
Bicuspid aortic valve (BAV)
Brugada syndrome
Cardiac conduction disorder, progressive
Catecholaminergic polymorphic ventricular tachycardia (CPVT)
Congenital heart defects
Dilated cardiomyopathy (DCM)
Early repolarization syndrome
Ehlers-danlos syndrome (EDS)
Heterotaxy with heart defects
Hypertrophic cardiomyopathy (HCM)
Isolated congenital heart defects panel
Left ventricular/noncompaction cardiomyopathy (LVNC)
Loeys-dietz syndrome (LDS)
Long QT syndrome (LQTS)
Marfan syndrome (MFS)
Marfan-like disorders panel
Pseudoxanthoma elasticum
Rasopathies with heart defects panel
Restrictive cardiomyopathy (RCM)
Short QT syndrome (SQTS)
Sinus node dysfunction
Syndromic congenital heart defects panel
Thoracic aortic aneurysms and dissections (TAAD)
Bardet-Biedl syndrome (BBS) core panel
Bardet-Biedl syndrome (BBS) extended panel
Heterotaxy
Joubert syndrome (JBTS) core panel
Joubert syndrome (JBTS) extended panel
Meckel-Gruber syndrome (MKS) core panel
Meckel-Gruber syndrome (MKS) extended panel
Nephronophthisis (NPHP) core panel
Nephronophthisis (NPHP) extended panel
Orofaciodigital syndrome (OFD, oral-facial-digital) core panel
Orofaciodigital syndrome (OFD, oral-facial-digital) extended panel
Polycystic kidney disease, autosomal dominant (ADPKD)
Polycystic kidney disease, autosomal recessive (ARPKD)
Primary ciliary dyskinesia (PCD) core panel
Primary ciliary dyskinesia (PCD) extended panel
Senior-Loken syndrome (SLS)
Short rib thoracic dysplasia core panel
Short rib thoracic dysplasia core panel
Achondrogenesis type 2
Achondroplasia
Apert syndrome
Bicuspid aortic valve (BAV)
Contractural arachnodactyly, congenital
Craniosynostosis core panel
Craniosynostosis extended panel
Crouzon syndrome
Crouzon syndrome with acanthosis nigricans
Cutis laxa
Ectopia lentis
Ehlers-Danlos syndrome (EDS)
Ehlers-Danlos syndrome, arthrochalasia (AEDS)
Ehlers-Danlos syndrome, autosomal dominant subtypes
Ehlers-Danlos syndrome, autosomal recessive subtypes
Ehlers-Danlos syndrome, cardiac-valvular (CVEDS)
Ehlers-Danlos syndrome, classical (CEDS)
Ehlers-Danlos syndrome, classical-like (CLEDS)
Ehlers-Danlos syndrome, dermatosparaxis (DEDS)
Ehlers-Danlos syndrome, kyphoscoliotic (KEDS)
Ehlers-Danlos syndrome, musculocontractural (MCEDS)
Ehlers-Danlos syndrome, myopathic (MEDS)
Ehlers-Danlos syndrome, periodontal (PEDS)
Ehlers-Danlos syndrome, rare types and differential diagnosis
Ehlers-Danlos syndrome, spondylodysplastic (SPEDS)
Ehlers-Danlos syndrome, vascular (VEDS)
Geleophysic dysplasia
Hemorrhage, intracerebral
Hypochondrogenesis
Hypochondroplasia
Kniest syndrome
Langer mesomelic dysplasia
Léri-Weill dyschondrosteosis
Loeys-Dietz syndrome (LDS)
Lujan-Fryns syndrome
Marfan syndrome (MFS)
Marfan-like disorders panel
Marshall syndrome
Meester-Loeys syndrome
Metaphyseal chondrodysplasia, schmid type
Moyamoya disease
Muenke syndrome
Osteogenesis imperfecta extended panel
Osteogenesis imperfecta, autosomal dominant core panel
Osteogenesis imperfecta, autosomal recessive core panel
Otospondylomegaepiphyseal dysplasia (OSMED)
Pfeiffer syndrome
Pseudoxanthoma elasticum
Robinow syndrome
Saethre-Chotzen syndrome
Short rib thoracic dysplasia core panel
Short rib thoracic dysplasia extended panel
Shprintzen-goldberg syndrome (SGS)
Spondyloepiphyseal dysplasia
Stickler syndrome (STL)
Thanatophoric dysplasia
Telangiectasia, hereditary hemorrhagic
Thoracic aortic aneurysms and dissections (TAAD)
Type 1 fibrillinopathies
Weill-Marchesani syndrome
AIP-associated hereditary isolated pituitary adenoma
Alström syndrome
Androgen insensitivity syndrome (AIS)
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
Azoospermia (extended)
Azoospermia (standard)
Bardet-Biedl syndrome (BBS) extended panel
CD73-related disorders
Chylomicronemia syndrome
Congenital adrenal hyperplasia
Congenital bilateral absence of the vas deferens (CBAVD)
Disorders of sex development (DSD)
Endocrine tumors
Fertility disorders – chromosomal causes
Gitelman syndrome
Hypercholesterolemia, familial core panel
Hypercholesterolemia, familial extended panel
Hyperlipoproteinemia, mixed (combined hyperlipidemia IIB
Hypertriglyceridemia, primary
Hypoalphalipoproteinemia (primary HDL deficiency syndrome)
Hypobetalipoproteinemia, familial (FHBL)
Hypocalciuric hypercalcemia (FHH)
Hypochondroplasia
Hypogonadotropic hypogonadism / Kallmann syndrome
Hypoparathyroidism
Hypophosphatasia
Hypophosphatemia
Klinefelter syndrome (47,XXY syndrome)
Léri-Weill dyschondrosteosis
Maturity onset diabetes of the young (MODY)
Multiple endocrine neoplasia 1
Multiple endocrine neoplasia 2A and B
Multiple endocrine neoplasia 4
Neonatal severe primary hyperparathyroidism (NSHPT)
Obesity, monogenic
Osteoporosis
Ovarian dysgenesis
Overgrowth syndromes panel
Pancreatitis
Paraganglioma-pheochromocytoma syndrome
Pendred syndrome
Prader-willi syndrome
Premature ovarian failure (POF) (extended)
Premature ovarian failure (POF) (standard)
Pseudohypoparathyroidism
Turner syndrome (Monosomy X)
Wolfram syndrome
Autism spectrum disorders panel
CHARGE syndrome
Coffin-Lowry syndrome
Coffin-Siris syndrome
Comprehensive developmental disorders panel
Congenital disorders of glycosylation panel
Cornelia de lange syndrome panel
Fragile X syndrome
GPI anchor deficiency panel
Hydrops fetalis
Kabuki syndrome
Macrocephaly panel
MECP2 duplication syndrome
Microcephalies, primary, AR panel
Mowat-wilson syndrome
Overgrowth syndromes panel
Pediatric neurotransmitter disorders panel
Pitt-Hopkins syndrome
Rett syndrome and related disorders panel
Rett syndrome panel
Robinow syndrome
Rubinstein-Taybi syndrome
Sotos syndrome
Weaver syndrome
Agammaglobulinemia
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
Celiac disease
Combined B and T cell immunodeficiencies
Congenital neutropenia
Crohn’s disease
HIV-1 host resistance
Hyper-IGM syndrome (HIGM)
Lymphoproliferative syndrome, X-linked
Neutropenia, cyclic / neutropenia, severe congenital 1
Severe combined immunodeficiency, X-linked (X-SCID)
Shwachman-bodian-diamond syndrome (SBDS)
Wiskott-Aldrich syndrome
X-linked (Bruton) agammaglobulinemia (XLA)
Abetalipoproteinemia (ABL)
Alcohol intolerance
Alpha-1 antitrypsin (AAT) deficiency
Apolipoprotein A-1 deficiency (APOA-1)
Apolipoprotein B (APOB) deficiency
Biotinidase deficiency
Chylomicronemia syndrome
Congenital adrenal hyperplasia
Congenital disorders of glycosylation panel
Crigler-Najjar syndrome
Cystic fibrosis
Dihyropyrimidine dehydrogenase deficiency (DPD deficiency)
Fatty acid oxidation disorders
Fish eye disease (FED)
Fructose intolerance, hereditary
Fructose intolerance, including FBP1 deficiency
Galactosemia
Galactosidase, alpha (GLA, Fabry disease)
Glucose-6-phosphate dehydrogenase deficiency (Favism)
Glucosidase, alpha, acid (GAA, Pompe disease)
Glucosidase, beta, acid (GBA, Gaucher disease)
Glutaric acidemia type 1 (GA1)
Hemochromatosis, hereditary core panel
Hemochromatosis, hereditary extended panel
Hepatic lipase deficiency, familial (HL)
Hypercholesterolemia, familial core panel
Hypercholesterolemia, familial extended panel
Hyperhomocysteinemia
Hyperlipoproteinemia, mixed (combined hyperlipidemia IIB)
Hyperlipoproteinemia, type IB
Hyperlipoproteinemia, type III
Hyperoxaluria
Hypertriglyceridemia, primary
Hypoalphalipoproteinemia (primary HDL deficiency syndrome)
Hypobetalipoproteinemia, familial (FHBL)
Hypophosphatasia
Hypophosphatemia
Isovaleric acidemia
Krabbe disease
Lactase deficiency, congenital
Lactose intolerance
Lecithin-cholesterol acyltransferase (LCAT) deficiency
Lipoprotein lipase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
Malignant hyperthermia
Maple syrup urine disease (MSUD)
Maturity onset diabetes of the young (MODY)
Medium-chain acyl-coa dehydrogenase (MCAD) deficiency
Methylmalonic aciduria
Meulengracht (Gilbert) syndrome
Mevalonic aciduria
Mitochondrial carnitine-acylcarnitine cycle disorders
Mucopolysaccharidosis
Multiple acyl-CoA dehydrogenase deficiency (MADD) / glutaric aciduria type IIA, IIB, IIC
Newborn testing
Niemann-Pick disease
Obesity, monogenic
Phenylketonuria
Porphyria
Propionic acidemia
Smith-Lemli-Opitz syndrome
Tangier disease
Tay-Sachs disease
Tyrosinemia, type I
Urea cycle disorders
Very long chain acyl-CoA dehydrogenase deficiency (VLCADD)
Wilson disease
Evartia metabolic panel
Duchenne/Becker muscular dystrophy
Facioscapulohumeral muscular dystrophy (FSHD)
Hypokalemic periodic paralysis
Metabolic myopathies
Metabolic myopathies, defects in mitochondrial ß-oxidation and mitochondrial DNA depletion syndromes and myopathy
Metabolic myopathies, glycogenosis with muscular involvement and carnitine cycle disorders
Muscular atrophy, spinobulbar (SBMA, Kennedy disease)
Muscular dystrophies
Muscular dystrophies, congenital
Muscular dystrophies, progressive core panel
Muscular dystrophies, progressive extended panel
Myopathies, congenital core panel
Myopathies, congenital extended panel
Myopathies, core core panel
Myopathies, core extended panel
Myopathies, myofibrillar
Myopathies, nemaline
Myotonias, non-dystrophic
Myotonias, periodic paralysis
Myotonic dystrophy type 1 (Curschmann-Steinert syndrome)
Spinal muscular atrophies (non-5q-SMA)
Spinal muscular atrophies type I, II, III, IV
Spinal muscular atrophies, late-onset
Spinal muscular atrophies, neonatal, early-onset and pontocerebellar hypoplasia
Alzheimer’s disease, early-onset
Alzheimer’s disease, late-onset
Amyloidosis
Ataxias
Ataxias, episodic
Ataxias, friedreich (FRDA1)
Ataxias, spastic core panel
Ataxias, spastic extended panel
Ataxias, syndromic
Autosomal dominant spinocerebellar and other hereditary ataxias
Autosomal recessive spinocerebellar and other hereditary ataxias
Brain malformations lissencephaly panel
Brain malformations pontocerebellar hypoplasia panel
Brain malformations tubulinopathies panel
Cadasil syndrome
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type 1 & 2
Charcot-Marie-Tooth disease, type 1a
Charcot-Marie-Tooth disease, type 2, axonal, autosomal dominant
Choreatic movement disorders core panel
Choreatic movement disorders extended panel
Creutzfeldt–Jakob disease
Dentatorubral pallidoluysian atrophy
Dravet syndrome
Epilepsy
Epilepsy, absence
Epilepsy, benign familial infantile seizures
Epilepsy, early infantile epileptic encephalopathy
Epilepsy, female restricted, with intellectual disability
Epilepsy, focal
Epilepsy, generalized juvenile myoclonic
Epilepsy, generalized with febrile seizures plus
Epilepsy, pyridoxine-dependent
Epilepsy, therapy relevant
Fragile X tremor/ataxia syndrome
Gerstmann-Straussler-Scheinker disease
Glucose transporter type 1 deficiency syndrome
Holoprosencephaly
Huntington disease
Hyperekplexia, hereditary (Startle disease)
Leukoencephalopathy with vanishing white matter
Migraine, familial hemiplegic
Neuropathies, hereditary
Neuropathy, recurrent, with pressure palsies
Polymicrogyria
Small fiber neuropathy
Spastic paraplegia
Cardiofaciocutaneous syndrome
Costello syndrome
Legius syndrome
Leopard syndrome
Neurofibromatosis type 1 (NF1)
Neurofibromatosis-noonan syndrome (NF/NS)
Noonan syndrome
Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (CBL variant-associated syndrome)
Rasopathies panel
Alport syndrome (ATS)
Congenital abnormalities of the kidneys and urinary tract (CAKUT) core panel
Congenital abnormalities of the kidneys and urinary tract (CAKUT) extended panel
Hyperoxaluria
Kidney agenesis/dysgenesis (core panel)
Kidney agenesis/dysgenesis (extended panel)
Lower urinary tract obstruction (LUTO), congenital
Nephrogenic diabetes insipidus (NDI)
Nephronophthisis (NPHP) core panel
Nephronophthisis (NPHP) extended panel
Nephrotic syndrome (focal segmental glomerulosclerosis, NS) core panel
Nephrotic syndrome (focal segmental glomerulosclerosis, NS) extended panel
Polycystic kidney disease, autosomal dominant (ADPKD)
Polycystic kidney disease, autosomal recessive (ARPKD)
Renal cysts and diabetes syndrome
Renal tubular dysgenesis
Thin-basement-membrane nephropathy (hematuria, benign familial)
Urinary tract malformation core panel
Urinary tract malformation extended panel
BAP1-related tumor predisposition syndrome
Nevoid basal cell carcinoma syndrome
Birt-Hogg-Dubé syndrome
Breast and ovarian cancer BRAC1, BRAC2
CDC73-related disorders
Constitutional mismatch repair deficiency
DICER1 syndrome
Familial adenomatous polyposis/MUTYH-associated polyposis
Familial atypical multiple mole melanoma syndrome
Hereditary leiomyomatosis and renal cell cancer
Hereditary renal cell carcinoma
Hereditary diffuse gastric cancer
Hereditary papillary renal cell cancer
Juvenile polyposis syndrome
Legius syndrome
Li-Fraumeni syndrome
Multiple endocrine neoplasia syndromes
Multiple endocrine neoplasia 1
Multiple endocrine neoplasia 2A and B
Multiple endocrine neoplasia 4
Neurofibromatosis type 1 (NF1)
Paraganglioma-pheochromocytoma syndrome
Peutz–jeghers syndrome
Hereditary polyposis syndromes
PTEN hamartoma tumor syndrome – Cowden syndrome
Von Hippel-Lindau syndrome
Adventia carrier screening alpha thalassemia focus panel
Adventia carrier screening B-haemoglobinopathies focus panel
Adventia carrier screening comprehensive panel
Adventia carrier screening core panel
Adventia carrier screening cystic fibrosis focus panel
Adventia carrier screening dystrophinopathies focus panel
Adventia carrier screening fragile X syndrome focus panel
Adventia carrier screening spinal muscular atrophy focus panel
