Disorders

5q22 Deletion Syndrome

Synonym(s): Familial Adenomatous Polyposis with Mental Retardation, FAP with Mental Retardation, Monosomy 5q22

Laboratory	Test Method	Prenatal	Carrier *
Pathology Associates Medical Laboratories, Cytogenetics Laboratory - Spokane, WA, USA	• FISH-metaphase • FISH-interphase
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.