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Patient Resources from Medical Genetics at MGfC and Mass General

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Care Guidelines and Protocols

Metabolic Disorders

  • Maple Syrup Urine Disease (MSUD): Acute Care Plan
  • MCADD: Going to the Emergency Room with MCADD
  • Propionic Acidemia (PA): Acute Care Plan
  • Urea Cycle Disorders (UCD): Acute Care Plan
  • Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD): Acute Care Plan

Genetic Condition Overviews

  • 22q11.2 Deletion Syndrome: What You Need to Know
  • CHARGE Syndrome: What You Need to Know
  • Costello Syndrome: What You Need to Know
  • Down Syndrome: Patient Resources
  • Fabry Disease: What You Need to Know
  • Gaucher Disease: What You Need to Know
  • Hereditary Hemhorrhagic Telangiectasia (HHT): What You Need to Know
    • Español: Qué es la HHT
  • Klinefelter Syndrome: What You Need to Know
  • Phelan-McDermid Syndrome: What You Need to Know
  • Prader-Willi Syndrome: What You Need to Know
  • Sotos Syndrome: What You Need to Know
  • Turner Syndrome: What You Need to Know

Genetic Testing

  • Cancer: Common Questions About Cancer Genetic Testing
  • Ehlers-Danlos Syndrome (EDS)

Hearing Loss

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Neurogenetics

  • Spinal Muscular Atrophy (SMA): What You Need to Know

Tests and Procedures

  • Aortic Imaging: What to Expect

Contact the Care Team

  • Concerns in Medical Genetics: Who to Call
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