Referral of a patient, couple or family to a genetic specialist for evaluation is indicated when one or more criteria are present.

Presence in an individual or family of:

(1) 1 or more malformations

(2) possible dysmorphic syndrome

(3) mental retardation or developmental delay

(4) possible inherited metabolic disorder

(5) possible single gene disorder

(6) possible chromosomal disorder, including balanced rearrangements

(7) risk for a familial genetic condition, including presymptomatic diagnosis

(8) a question of a possible genetic component to a medical condition


Presence in a male and female couple of:

(1) recurrent miscarriages

(2) consanguinity

(3) an exposure to a potential teratogen

(4) advanced maternal age or other risk factors to fetal development

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