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HEREDITARY MONOGENIC DISEASES
DIAGNOSIS OF INHERITED MONOGENIC DISORDERS
HOW CAN THIS HELP ME?
Monogenic diseases are types of inherited disorder caused by a mutation or an alteration in the dna from single gene. Are you a carrier of any monogenetic disorder? Discover what implications this has on your health or on that of your children. With tellmegen you can find out if you or your partner are carriers of any monogenic disorder and by understanding your personal Genetic Report, see how this will affect your children.
- Alpha-1 antitrypsin deficiency
- Alpha-mannosidosis
- Autosomal recessive polycystic kidney diseaseUPDATED
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Beta ThalassemiaUPDATED
- Biotinidase deficiency
- Birt-Hogg-Dube syndrome
- Bloom syndrome
- Brugada syndrome
- Canavan DiseaseUPDATED
- Classical homocystinuria due to CBS deficiency
- Complete achromatopsia (type 2) and Incomplete achromatopsia
- Congenital disorder of glycosylation type 1a (PMM2-CDG)
- Congenital myasthenic syndrome
- Congenital stationary night blindness 1C
- Corpus callosum agenesis with peripheral neuropathyUPDATED
- Cystic FibrosisUPDATED
- Cystinosis
- D-Bifunctional protein deficiency
- Dihydrolipoamide dehydrogenase deficiency
- Dilated cardiomyopathy 1A
- Dubin-Johnson syndrome
- Dystrophic dysplasia
- Ehlers-Danlos syndrome
- Familial adenomatous polyposis
- Familial advanced sleep phase disorder
- Familial hypercholesterolemiaUPDATED
- Familial hyperinsulinism (related to ABCC8)
- Familial hypertrophic cardiomyopathy
- Familial mediterranean feverUPDATED
- Familial Transthyretin AmyloidosisUPDATED
- Fanconi anemia (FANCC related)
- Gaucher diseaseUPDATED
- Glucose-6-phosphate dehydrogenase deficiency (G6PD)UPDATED
- Glutaryl-CoA type 1
- Glutaryl-CoA type 2
- Glycogen storage disease type 1B
- Glycogen storage disease type 3
- Glycogen storage disease type 5
- Glycogen type 1A or Von Gierke disease
- Glycogen type 2 or Pompe disease
- GRACILE syndrome
- Hereditary Breast and Ovarian Cancer
- Hereditary fructose intolerance
- Hereditary hemochromatosis associated with HFE
- Hypokalemic periodic paralysis
- Hypophosphatasia
- Junctional epidermolysis bullosa
- Leigh Syndrome, French-Canadian type (LSFC)
- Leukoencephalopathy with vanishing white matter
- Li-Fraumeni syndrome
- Limb-girdle muscular dystrophy
- Malignant hyperthermia
- Maple syrup urine disease type 1B
- Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
- Metachromatic leukodystrophy
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Methylmalonic aciduria type cblA
- Methylmalonic aciduria type cblB
- Mucolipidosis IV
- Mucolipidosis type II
- Multiple endocrine neoplasia 2B
- Neuronal Ceroid-Lipofuscinoses type 1 (associated to PPT1)
- Neuronal Ceroid-Lipofuscinoses type 3 (associated to CLN3)
- Neuronal Ceroid-Lipofuscinoses type 5 (associated to CLN5)
- Neuronal Ceroid-Lipofuscinoses type 6 (associated to CLN6)
- Neuronal Ceroid-Lipofuscinoses type 7 (associated to MFSD8)
- Niemann-Pick disease type AUPDATED
- Non-syndromic mitochondrial hearing loss
- Nonsyndromic Hearing Loss and Deafness, DFNB1
- Oculocutaneous albinism type 1 (tyrosinase negative)
- Oculocutaneous albinism type 2 (tyrosinase positive)
- Pendred syndrome
- Peters plus syndrome
- PhenylketonuriaUPDATED
- Pontocerebellar hypoplasia
- Porphyria
- Primary hyperoxaluria type 1 (PH1)
- Primary hyperoxaluria type 2 (PH2)
- Pyridoxine-dependent epilepsy
- Refsum disease
- Retinitis pigmentosa
- Rhizomelic chondrodysplasia punctata type 1
- Riley Day syndrome (Familial dysautonomia)
- Salla disease
- Short chain acyl-CoA dehydrogenase deficiency (SCADD)
- Sjögren-Larsson syndrome
- Spinal muscular atrophy
- Tay-Sachs disease
- Tyrosinemia type I
- Usher syndrome
- Very long chain acyl-CoA dehydrogenase deficiency (VLCADD)
- Wilson disease
- Zellweger syndrome
- α-Congenital muscular dystroglycanopathy and Walker-Warburg syndrome