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Most people are referred for a medical genetics appointment so that a member of the genetics team can answer their questions about a genetic condition affecting them or other members of their family.
Typical reasons for a referral to a genetics clinic include:
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A person with a genetic condition in the family wants to know
the risk to he/she will develop the condition or pass it to their
children.
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A person worried about a family history of cancer wants to
know if they are at increased risk and to discuss their options.
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A child with problems such as developmental delay, learning
difficulties or congenital anomalies (eg. heart defect, deafness)
may be referred if there is concern that there may be a genetic
basis to the child’s condition. If a child has multiple
problems, the geneticist may be asked to assess whether there
may be a unifying genetic diagnosis.
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Parents of a child with a genetic condition or a condition
that may have a genetic cause may wish advice about the likelihood
of similar problems recurring in a future pregnancy
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A genetic test eg. chromosome analysis arranged by a paediatrician,
hospital specialist or GP has given an atypical/unusual result
or has diagnosed a genetic disorder.
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