Genetic Diseases
Haemophilia B due to F9
Haemophilia B due to F10
Haemophilia B due to F11
Haemophilia B due to F14
Haemophilia B due to F15
Amelogenesis imperfecta due to ACPT
Amelogenesis imperfecta due to ENAM
Recurrent inflammatory pulmonary disease due to AKNA
Cystinuria type I - A due to SLC3A1
Nephritis due to COL4A5
Familial adenomatous polyposis due to APC
Lymphoma due to No gene specific
Lymphoma due to ANO6
Mammary gland tumors due to WDR3
Mammary gland tumors due to SEHIL
Mammary gland tumors due to PLXNA4
Mammary gland tumors due to ILIRAP
Mammary gland tumors due to MOK
Mast Cell Tumor (MCT) due to MCT
Renal cystadenocarcinoma and nodular dermatofibrosis due to FLCN
Thyroid follicular cell carcinoma due to TPO
Thyroid follicular cell carcinoma due to SNTG2
Transitional cell carcinoma due to BRAF
Hypotrichosis due to SGK3
Cardiomyopathy and juvenile mortality due to YARS2
Cardiomyopathy, dilated due to PLN
Cardiomyopathy, dilated due to TTN
Elliptocytosis due to SPTB
Factor VII deficiency due to F7
Immunodeficiency due to CARMIL2
Immunodeficiency due to CARD9
Leukocyte adhesion deficiency due to ITGB2
Leukocyte adhesion deficiency due to FERMT3
Long QT syndrome due to KCNQ1
May-Hegglin anomaly due to MYH9
Methaemoglobinaemia due to CYB5R3
Platelet Factor X Receptor Deficiency, Scott Syndrome due to TMEM16F
Prekallikrein deficiency due to KLKB1
Pyruvate kinase deficiency of erythrocyte due to PKLR
Scott Syndrome due to ANO6
Thrombasthenia due to ITGA2B
Thrombocytopenia due to TUBB1
Von Willebrand disease I due to VWF
Von Willebrand disease II due to VWF
Wilson disease due to ATP7B
Lundehund syndrome due to P3H2
Pituitary hormone deficiency due to POU1F1
Pituitary hormone deficiency due to LHX3
Hypothyroidism congenital dyshormonogenic with goiter due to SLC5A5
Nephropathy due to COL4A4
Urolithiasis due to SLC2A9
Cystinuria type II - B due to SLC7A9
Hyperoxaluria primary type I due to AGXT
Polycystic kidney disease due to PKD1
Diffuse cystic renal dysplasia and hepatic fibrosis due to INPP5E
Xanthinuria type I due to XDH
Hyposegmentation of granulocytes due to LMBR1L
Periodic Fever Syndrome due to MTBP
Myeloperoxidase deficiency due to MPO
Severe combined immunodeficiency disease, T cell-negative, B cell-negative, NK cell-positive due to RAG1
Acrodermatitis lethal due to MKLN1
Dermatomyositis due to MAP3K7CL
Dermatomyositis due to PAN2
Dilute coat color with neurological defects due to MYO5A
Ectodermal dysplasia due to FOXI3
Ectodermal dysplasia due to PKP1
Epidermolysis bullosa, dystrophic due to COL7A1
Epidermolysis bullosa, junctionalis due to LAMA3
Epidermolysis bullosa, junctionalis due to LAMB3
Epidermolysis bullosa, simplex due to PLEC
Exfoliative cutaneous lupus erythematosus due to UNC93B1
Geleophysic dysplasia due to ADAMTSL2
Glycogen storage disease II due to GAA
Glycogen storage disease VII due to PFKM
Hypocatalasia due to CAT
Mannosidosis, alpha due to MAN2B1
Mannosidosis, beta due to MANBA
Metabolizer of a cognitive enhancer due to CYP1A2
Mucopolysaccharidosis VII due to GUSB
Obesity due to POMC
Pyruvate dehydrogenase deficiency due to PDP1
Succinic semialdehyde dehydrogenase deficiency due to ALDH5A1
Centronuclear myopathy due to DNM2
Centronuclear myopathy due to BIN1
Cerebellar degeneration-myositis complex due to SLC25A12
Congenital muscular dystrophy due to LAMA2
Malignant hyperthermia due to RYR1
Muscular dystrophy, limb-girdle, type R3 (LGMDR3) due to SGCA
Respiratory distress syndrome due to ANLN
Myotubular myopathy 1 due to MTM1
Nemaline myopathy due to NEB
Acral mutilation syndrome due to GDNF
Adult Onset Deafness due to CFA6
Alexander disease due to GFAP
Ataxia, cerebellar, juvenile to adolescent due to RAB24
Bardet-Biedl syndrome due to BBS2
Bardet-Biedl syndrome due to BBS4
Cerebellar abiotrophy due to VMP1
Cerebellar cortical degeneration due to SNX14
Deafness, bilateral, and vestibular dysfunction due to MYO7A
Deafness due to CDH23
Deafness due to GC
Deafness due to HEG1
Deafness due to KLF7
Deafness due to LOXHD1
Deafness due to MAP6
Deafness, unilateral and vestibular dysfunction due to PTPRQ
Degenerative myelopathy due to SOD1
Dermoid sinus due to FGF3
Dyskinesia, paroxysmal due to PCK2
Dyskinesia, paroxysmal due to PIGN
Dystonia-ataxia syndrome, paroxysmal due to TNR
Epilepsy due to LGI2
Epilepsy due to DIRAS1
Epilepsy due to PITRM1
Eye malformation due to SIX6
Gangliosidosis, GM2, type I due to HEXA
Goniodysgenesis and Glaucoma, Pectinate Ligament Dysplasia, PLD due to OLFM3
Leukodystrophy due to CYTB
Leukodystrophy due to TSEN54
Leukoencephalomyelopathy due to NAPEPLD
Ligneous membranitis due to PLG
Lipid malabsorption due to ACSL5
Macular corneal dystrophy due to LOC489707
Multiple ocular defects due to COL11A1
Myasthenic syndrome, congenital due to CHAT
Myasthenic syndrome, congenital due to CHRNE
Myasthenic syndrome, congenital due to COLQ
Myeloencephalopathy, progressive degenerative due to PNPLA8
Narcolepsy due to HCRTR2
Necrotising encephalopathy, subacute, of Leigh due to SLC19A3
Necrotising myelopathy due to IBA57
Neonatal encephalopathy with seizures due to ATF2
Neurodegenerative vacuolar storage disease due to ATG4D
Neuropathy, hereditary sensory and autonomic due to SCN9A
Photoreceptor dysplasia due to HIVEP3
Progressive rod-cone degeneration due to PRCD
Retinal dysplasia due to NDP
Stargardt disease due to ABCA4
Tremor due to PLP1
Fecundity due to GDF9
Persistent Mullerian duct syndrome due to AMHR2
Surfactant metabolism dysfunction, pulmonary due to LAMP3
Upper airway syndrome due to ADAMTS3
Brachycephaly due to BMP3
Chondrodysplasia, disproportionate short-limbed due to ITGA10
Chondrodysplasia due to SLC13A1
Choroidal hypoplasia due to NHEJ1
Craniomandibular osteopathy due to SLC37A2
Dental hypomineralization due to FAM20C
Dwarfism due to PRKG2
Hypophosphatasia due to ALPL
Oculoskeletal dysplasia due to COL9A3
Osteochondromatosis due to EXT2
Skeletal dysplasia due to COL11A2
Vitamin D-deficiency rickets, type IA due to CYP27B1
Bernard-Soulier syndrome, type C due to GP9
Achromatopsia due to CNGA3
Achromatopsia due to CNGB3
Glaucoma, primary open angle due to ADAMTS10
Glaucoma, primary open angle due to ADAMTS17
Von Willebrand disease III due to VWF
Severe combined immunodeficiency disease due to PRKDC
Severe combined immunodeficiency disease due to IL2RG
Fucosidosis, alpha due to FUCA1
Hypomyelination of the central nervous system due to FNIP2
Ataxia, spinocerebellar due to CAPN1
Ataxia, spinocerebellar due to SCN8A
Ataxia, spinocerebellar due to SLC12A6
Ataxia, spinocerebellar due to SPTBN2
Cataract, early onset due to HSF4
Krabbe disease due to GALC
Spinal dysraphism due to NKX2-8
classical Ehlers-Danlos syndrome (cEDS) due to COL5A1
classical Ehlers-Danlos syndrome (cEDS) due to COL5A2
Cystinuria type II - A due to SLC3A1
Glycogen storage disease Ia due to G6PC
Glycogen storage disease Ia due to G6PC1
Ichthyosis due to ABHD5
Ichthyosis due to ASPRV1
Ichthyosis due to NIPAL4
Ichthyosis due to SDR9C7
Ichthyosis due to PNPLA1
Ichthyosis due to SLC27A4
Muscular dystrophy, Ullrich type due to COL6A1
Muscular dystrophy, Ullrich type due to COL6A3
Lissencephaly and cerebellar hypoplasia due to RELN
Mucopolysaccharidosis VI due to ARSB
Osteogenesis imperfecta due to COL1A2
Osteogenesis imperfecta due to SERPINH1
Osteogenesis imperfecta due to COL1A1
Neuropathy, sensory ataxic due to MTTY
Neuropathy, sensory ataxic due to FAM134B
Gangliosidosis, GM2, type II due to HEXB
Exercise-induced collapse due to DNM1
Retinal atrophy - Rod-cone dysplasia due to PDE6B
Retinal atrophy - Rod-cone dysplasia due to PDE6A
Bleeding disorder due to P2RY12
Night blindness, congenital stationary due to LRIT3
Muscular hypertrophy (double muscling) due to MSTN
Xanthinuria type II due to MOCOS
Muscular dystrophy, Duchenne type due to DMD
Dwarfism growth-hormone deficiency due to GH1
Glycogen storage disease IIIa due to AGL
Lysosomal storage disease due to ARSG
Lysosomal storage disease due to CNP
Multifocal retinopathy due to BEST1
Laryngeal paralysis and polyneuropathy due to CNTNAP1
Laryngeal paralysis and polyneuropathy due to RAPGEF6
Intestinal cobalamin malabsorption due to CUBN
Intestinal cobalamin malabsorption due to AMN
Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis due to FAM83H
Ciliary dyskinesia due to CCDC39
Ciliary dyskinesia due to NME5
Polycythemia due to JAK2
Neuroaxonal dystrophy due to MFN2
Neuroaxonal dystrophy due to PLA2G6
Neuroaxonal dystrophy due to TECPR2
Neuroaxonal dystrophy due to VPS11
Lens luxation due to ADAMTS17
Verrucous epidermal keratinocytic nevi due to NSDHL
Ataxia due to HACE1
Trapped Neutrophil Syndrome due to VPS13B
Thrombopathia due to RASGRP2
Hypohidrotic ectodermal dysplasia due to EDA
Dental-skeletal-retinal anomaly due to MIA3
C3 deficiency due to C3
Nasal parakeratosis due to SUV39H2
Gastrointestinal stromal tumour due to KIT
Gangliosidosis, GM1 due to GLB1
XY difference of sexual development due to HSD17B3
Retinal atrophy, progressive due to RHO
Retinal atrophy, progressive due to CCDC66
Retinal atrophy, progressive due to CNGA1
Retinal atrophy, progressive due to CNGB1
Retinal atrophy, progressive due to IFT122
Retinal atrophy, progressive due to NECAP1
Retinal atrophy, progressive due to SAG
Retinal atrophy, progressive due to TTC8
Exercise induced metabolic myopathy due to ACADVL
Dermatosparaxis Ehlers-Danlos syndrome (dEDS) due to ADAMTS2
Vitamin D-deficiency rickets, type II due to VDR
Neuronal ceroid lipofuscinosis due to CTSD
Neuronal ceroid lipofuscinosis due to ATP13A2
Neuronal ceroid lipofuscinosis due to TPP1
Neuronal ceroid lipofuscinosis due to CLN5
Neuronal ceroid lipofuscinosis due to CLN6
Neuronal ceroid lipofuscinosis due to MFSD8
Neuronal ceroid lipofuscinosis due to CLN8
L-2-hydroxyglutaricacidemia due to L2HGDH
Hyperkeratosis due to KRT10
Hyperkeratosis due to DSG1
Hyperkeratosis due to FAM83G
Mucopolysaccharidosis IIIA due to SGSH
Cerebellar hypoplasia due to VLDLR
Afibrinogenaemia due to FGA
Haemophilia A due to F8
Retinal atrophy - Cone-rod dystrophy due to PDE6B
Retinal atrophy - Cone-rod dystrophy due to IQCB1
Retinal atrophy - Cone-rod dystrophy due to RPGRIP1
Retinal atrophy - Cone-rod dystrophy due to MAP9
Retinal atrophy - Cone-rod dystrophy due to NPHP4
Polyneuropathy due to ARHGEF10
Polyneuropathy due to GJA9
Polyneuropathy due to MPZ
Polyneuropathy due to MTMR2
Polyneuropathy due to SH3TC2
Polyneuropathy due to NDRG1
Polyneuropathy due to RAB3GAP1
Polyneuropathy due to SBF2
Microphthalmia, isolated, with coloboma due to RBP4
Muscular dystrophy, limb-girdle, type R6 (LGMDR6) due to SGCD
Cleft lip with or without cleft palate due to ADAMTS20
Van den Ende-Gupta syndrome due to SCARF2
Muscular dystrophy-dystroglycanopathy due to LARGE1
Leber congenital amaurosis due to RPE65
Spondylocostal dysostosis due to HES7
Hyperekplexia (Startle disease) due to SLC6A5
Ataxia, cerebellar due to SEL1L
Ataxia, cerebellar due to SEPP1
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