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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.
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