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Tests and Procedures

Tests can often resolve uncertainty about genetic risks and confirm a diagnosis. For most patients, testing involves taking only a blood sample. A few tests involve taking hair, skin, or other tissue samples.

Tests may include:

  • Biochemical genetic testing
  • DNA testing
  • Chromosome analysis
  • Chromosomal microarray analysis
  • Subtelomere/FISH analysis
  • Diagnostic radiology
  • Skin biopsy
  • Confirmation of abnormal newborn screen
  • Parental and carrier genetic testing
  • Muscle biopsy

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