Understand the concerns and questions raised by the family and/or referring physician.
Acquire information: pedigree, medical history, experiential background(the personal burden), obtain relevant medical records.
Work as part of a multidisciplinary team to clarify the accuracy of the diagnosis. (Physical exam, relevant tests and evaluations.
If the diagnosis is known, facilitate the family's understanding and adjustment, emotionally and practically. Information is provided to help families make informed decisions and to access appropriate issues and decision-making in light of a degree of uncertainty.
If the diagnosis remains uncertain, facilitate understanding of what is known and what has been ruled out - facilitate management issues and decision-making in light of a degree of uncertainty.