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Metabolic Diseases

Metabolic Diseases

  • Hemochromatosis - HFE gene includes 1 Gene(s)
  • Porphyria includes 9 Gene(s)
  • Cystic fibrosis - CFTR gene includes 1 Gene(s)
  • Adipositas (DxOme Not Available) includes 7 Gene(s)
  • ALPL_Hypophosphatasia includes 1 Gene(s)
  • Wilson disease I ATP7B includes 1 Gene(s)
  • Dyslipidemia (DxOme Not Available) includes 14 Gene(s)
  • Familial hypocalciuric hypercalcemia includes 3 Gene(s)
  • Glycine encephalopathy includes 3 Gene(s)
  • Glycogen storage disease includes 28 Gene(s)
  • Iron metabolism disorder, comprehensive analysis includes 19 Gene(s)
  • Hypertriglyceridemia / mixed hyperlipidemia (DxOme Not Available) includes 8 Gene(s)
  • Hypercholesterolemia familial - LDLR gene includes 1 Gene(s)
  • Methylmalonic acidemia includes 8 Gene(s)
  • Molybdenum cofactor deficiency includes 3 Gene(s)
  • Mucolipidosis and Differential Diagnoses includes 9 Gene(s)
  • Neuronal lipofuscinoses (NCL) includes 13 Gene(s)
  • Metabolism: Diabetes, lipid metabolism, iron/copper metabolism, adipositas includes 42 Gene(s)
  • CoQ10 deficiency includes 14 Gene(s)
  • Intellectual Disability – treatable includes 140 Gene(s)

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  • Gene Panel Sequencing
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