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 gene