There are a wide variety of reasons leading to referral to the
genetic clinic. The referral may be for diagnosis in cases where
a genetic disorder is suspected; for counselling when a genetic
condition has been identified; for genetic investigation of
family members when there is a family history of an inherited
disorder; or for information regarding prenatal diagnosis. The
disorders seen include sporadic birth defects and chromosomal
syndromes as well as mendelian, mitochondrial and
multifactorial conditions. Specialist or multidisciplinary clinics
are provided by some genetic centres, such as for
dysmorphology, inherited cancers, neuromuscular disorders,
Huntington disease, Marfan syndrome, ophthalmic disorders or
hereditary deafness.
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