Samples’ and documents’ check list

  • Blood sample from the Male Partner 
  • Blood sample from the Female Partner 
  • Blood sample from the Affected Child of the couple (if any) 
  • Blood sample from the Affected member(s) of the family (if applicable)
  • Blood sample from family members (for linkage studies only) 
  • Buccal swab from the male and/or female partners and/or the affected children (if any) carrying the disease causing mutation(s) 
  • Genetic report including indication on mutation(s) identified * 
  • Genetic counseling including a clinical diagnosis and indication on the gene involved (if the mutations are unknown)
  • Blood / Buccal Swab Submission Form 
  • Patient Information form

* You probably have a DNA diagnostic report(s) in the patient’s chart. For example, a cystic fibrosis mutation report defining the gene mutation(s). If you do not have one or the mutations are unknown, we can assist you in obtaining it through our genetic facility. We use these data to custom design the molecular probes necessary for their single-cell PGD testing.