Disorders

Phelan-McDermid Syndrome

Synonym(s): Chromosome 22q13.3 Deletion Syndrome

Gene	Locus	Protein
SHANK3	22q13.3

Laboratory	Test Method	Prenatal	Carrier *
Akron Children's Hospital, Cytogenetics Laboratory - Akron, OH, USA	• FISH-metaphase
ARUP Laboratories, Inc., Cytogenetics Laboratory - Salt Lake City, UT, USA	• FISH-metaphase
Center for Human Genetics, Inc - Cambridge, MA, USA	• FISH-metaphase • FISH-interphase
CGC Genetics - Porto, Portugal	• FISH-metaphase • FISH-interphase
Greenwood Genetic Center, Clinical Cytogenetics Laboratory - Greenwood, SC, 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.