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NZOZ genomed > Badania genetyczne > Lista badań
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Genetic testing
Genetic testing
- AUDIOLOGY
-
CARDIOLOGY
- Alagille syndrome
- Candersartan, Irbesartan, Losartan, Warfarin - activity of the CYP2C9
- Cardiomyopathy (hypertrophic and dilated)
- Cardiomyopathy - screening panel
- Carvedilol, Codeine, Metoprolol, Propranolol and Timolol - activity of the CYP2D6
- Cerebral small vessel disease (CSVD)
- Clopidogrel - analysis of the cytochrome CYP2C19 activity
- Congenital thrombophilia
- Costello Syndrome
- Ehlers-Danlos syndrome
- Hypercholesterolemia
- Kabuki syndrome
- Long QT syndrome
- Marfan Syndrome
- Rasopathies
- Thoracic Aortic Aneurysms and Aortic Dissections (TAAD)
- CYSTIC FIBROSIS
- DERMATOLOGY
- ENDOCRINOLOGIC DISEASES
- GASTROENTEROLOGY
-
GENOMIC RESEARCH
- Adrenoleucodystrophy
- Artrogrypoza
- Ataxia
- Cardiomyopathy - screening panel
- Clinical exome
- Clinical genome
- Genodermatozy
- Hereditary Sensory and Motor Neuropathies
- Hypogonadism, hypogonadotropic
- Inborn metabolic disorders
- Intellectual disability
- Leukodystrophy
- Mitochondrial Diseases
- Myopathy
- Myotonia
- Neuromuscular diseases
- Newborn screening
- Parento
- Parkinson disease
- Prophylactic Whole Genome Analysis
- Screening NGS panel for hereditary cancers
- Wrodzone niedobory odporności/deficyty immunologiczne
-
GYNECOLOGY and INFERTILITY
- ANDROGEN INSENSITIVITY SYNDROME
- Congenital Adrenal Hyperplasia
- Disorder of sex development
- Hypogonadism, hypogonadotropic
- Infertility
- Lymphocyte Karyotype
- Molecular karyotype (array CGH)
- Parento
- Premature Ovarian Failure
- Recurrent Pregnancy Loss
- Sex Determination
- Sex determination of miscarriage material
-
METABOLIC DISEASES
- CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY
- Cystinosis
- Diabetes
- Fabry disease
- Galactosemia
- Gaucher`s Disease
- Hemolytic anemia
- Hereditary hypophosphatemic rickets
- Inborn metabolic disorders
- Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
- McCune-Albright syndrome
- Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
- Mitochondrial Diseases
- Mucopolysaccharidosis
- Neuronal ceroid lipofuscinosis
- Newborn screening
- Nonketotic Hyperglycinemia
- Phenylketonuria
- Pompe disease
- Smith-Lemli-Opitz Syndrome
- Surfactant deficiency
- Trimethylaminuria (Fish Odor Syndrome)
-
NEUROLOGY
- Aceruloplasminemia
- Adrenoleucodystrophy
- Alexander Disease
- Alzheimer Disease
- Amyotrophic lateral sclerosis (ALS)
- Angelman Syndrome
- Ataxia
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy - CADASIL
- Cerebral small vessel disease (CSVD)
- Congenital central hypoventilation syndrome, CCHS
- Epilepsy
- Fragile X Syndrome
- Frontotemporal dementia (FTD)
- Genodermatozy
- Hereditary Sensory and Motor Neuropathies
- Hereditary spastic paraplegia (HSP)
- Homocystinuria
- Intellectual disability
- Kabuki syndrome
- Krabbe Disease
- Leukodystrophy
- Mitochondrial Diseases
- Muscular Dystrophy
- Myopathy
- Myotonia
- Neurodegeneration with brain iron accumulation (NBIA)
- Neurofibromatosis
- Neuronal ceroid lipofuscinosis
- Oculopharyngeal Muscular Dystrophy
- Parkinson disease
- Pompe disease
- Prader-Willi Syndrome
- Refsum Disease
- Rett Syndrome
- Rubinstein-Taybi Syndrome
- Segawa syndrome
- Smith-Lemli-Opitz Syndrome
- Sotos syndrome
- Spinal Muscular Atrophy
- Spinal and bulbar muscular atrophy (Kennedy's Disease)
- Tuberous sclerosis
-
ONCOLOGY
- Bloom Syndrome
- CHEK2-related breast/ prostate/ colon/thyroidy familial cancer
- Diffuse Gastric Cancer
- Familial Medullary Thyroid Carcinoma (FMTC)
- Hereditary breast/ovarian cancer
- Inherited polyposes
- Li-Fraumeni Syndrome
- Lynch syndrome, hereditary non-polyposis colorectal cancer (HNPCC)
- Melanoma
- Multiple Endocrine Neoplasia
- Multiple osteochondromas
- Neurofibromatosis
- Nijmegen breakage syndrome
- Peutz-Jeghers syndrome
- Retinoblastoma
- Screening NGS panel for hereditary cancers
- Screening NGS panel for somatic variants in breast cancer
- von Hippel-Lindau Syndrome (Familial Cerebelloretinal Angiomatosis)
-
OPHTHALMOLOGY
- Age-related Macular Degeneration (AMD)
- Alagille syndrome
- Alport syndrome
- Corneal dystrophy
- Developmental anomalies affecting the eye
- Homocystinuria
- Marfan Syndrome
- Mitochondrial Diseases
- NGS analysis of 24 genes related to albinism and hypopigmentation
- Optic atrophy
- Refsum Disease
- Retinal dystrophy
- Sticler syndrome
-
ORTHOPAEDICS
- Achondroplasia
- Alagille syndrome
- Alport syndrome
- Apert Syndrome
- Artrogrypoza
- Beckwith-Wiedemann Syndrome
- Coffin-Lowry Syndrome
- Cornelai de Lange Syndrome
- Craniosynostosis
- Crouzon Syndrome
- Ehlers-Danlos syndrome
- Hereditary hypophosphatemic rickets
- Homocystinuria
- Hypochondroplasia
- Klippel-Feil syndrome
- Marfan Syndrome
- McCune-Albright syndrome
- Muenke Syndrome
- Multiple osteochondromas
- Osteogenesis Imperfecta
- Pfeiffer Syndrome
- Rubinstein-Taybi Syndrome
- Silver-Russell Syndrome
- Skeletal dysplasias
- Sticler syndrome
- Thanatophoric dysplasia type I
- OTHER
- PHARMACOGENETICS