• Very Long Chain Acyl-CoA Dehydrogenase Deficiency, Gene Mutation Analysis
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  • FLT3 (FMS-related Tyrosine Kinase 3) Mutation Analysis, Blood
  • Biopsy, Muscle
  • Hepatic steatosis (fatty liver)
  • Pulmonary embolism
  • Branched-Chain Amino Acids for Maple Syrup Disease Monitoring
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Bloom syndrome
Disease

Additional ICD10
Access to Bloom syndrome is restricted.
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