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НАСЛЕДУЕМЫЕ МОНОГЕННЫЕ ЗАБОЛЕВАНИЯ
ДИАГНОСТИКА НАСЛЕДСТВЕННЫХ МОНОГЕННЫХ РАССТРОЙСТВ
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Моногенные заболевания представляют собой тип наследственного расстройства, вызванного мутацией или изменением в ДНК одного гена. Вы носитель какого-либо моногенетического расстройства? Узнайте, как это влияет на ваше здоровье или состояние ваших возможных потомков. С помощью теста TellmeGen вы можете узнать, являетесь ли вы или ваш партнер носителями какого-либо моногенного расстройства, и, изучив вашу личную карту здоровья, посмотреть, как это повлияет на ваших потомков.
- 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