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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 non-syndromic deafness, DFNBNEW
- Autosomal recessive polycystic kidney disease
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Beta Thalassemia
- Biotinidase deficiency
- Birt-Hogg-Dube syndrome
- Bloom syndromeNEW
- Brugada syndromeNEW
- Canavan Disease
- Complete achromatopsia (type 2) and Incomplete achromatopsiaNEW
- Congenital disorder of glycosylation type 1a (PMM2-CDG)
- Congenital myasthenic syndrome
- Congenital stationary night blindness 1CNEW
- Corpus callosum agenesis with peripheral neuropathy
- Cystic Fibrosis
- Cystinosis
- D-Bifunctional protein deficiency
- Dihydrolipoamide dehydrogenase deficiency
- Dilated cardiomyopathy 1ANEW
- Dubin-Johnson syndromeNEW
- Dystrophic dysplasia
- Ehlers-Danlos syndrome
- Familial adenomatous polyposis
- Familial delayed sleep-phase syndrome
- Familial hypercholesterolemia
- Familial hyperinsulinism (related to ABCC8)NEW
- Familial hypertrophic cardiomyopathy
- Familial mediterranean fever
- Fanconi anemia (FANCC related)
- Fructose intolerance
- Glucose-6-phosphate dehydrogenase deficiency (G6PD)
- Glutaryl-CoA type 1NEW
- Glutaryl-CoA type 2NEW
- Glycogen storage disease type 1B
- Glycogen storage disease type III
- Glycogen storage disease type V
- Glycogen type 1A or Von Gierke disease
- Glycogen type 2 or Pompe disease
- GRACILE syndrome
- Hemochromatosis (HFE related)
- Hereditary Breast and Ovarian Cancer
- 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 cblANEW
- Methylmalonic aciduria type cblBNEW
- Mucolipidosis IV
- Mucolipidosis type 2
- Multiple endocrine neoplasia 2B
- Neuronal Ceroid-Lipofuscinoses
- Niemann-Pick disease type A
- Non-syndromic mitochondrial hearing loss
- Oculocutaneous albinism type 1 (tyrosinase negative)NEW
- Oculocutaneous albinism type 2 (tyrosinase positive)NEW
- Pendred syndrome
- Peters plus syndrome
- Phenylketonuria
- Pontocerebellar hypoplasia
- Porphyria
- Primary hyperoxaluria type 1 (PH1)
- Primary hyperoxaluria type 2 (PH2)
- Pyridoxine-dependent epilepsy
- Refsum disease
- Retinitis pigmentosaNEW
- 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)NEW
- Wilson disease
- Zellweger syndrome
- α-Congenital muscular dystroglycanopathy and Walker-Warburg syndromeNEW