Test Name
Phelan-McDermid Syndrome*
Test Code
F PMS
Synonyms
N25/ARSA, del(22)(q13.3)
CPT Codes
88273x1, 88274x1, 88271x2, 88291x1
Turnaround Time
9
Specimen Requirements
5mL peripheral blood in sodium heparin 3mL bone marrow in sodium heparin Fixed cytogenetically prepared cells in sterile centrifuge tube with pellet visible in 3:1, Methanol:Acetic Acid
Specimen Stability
Blood = 4°C to 25°C, specimens are stable up to 72 hours Fixed cell pellets are stable for years when stored at -28°C to -15°C
Storage & Handling
4°C to 25°C during transit, but specimens may be transported on refrigerated gel packs. Do not allow the gel pack to come in contact with the specimen. Do not freeze. Extreme temperatures should be avoided.
Causes for Rejections
Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells
Description
deletion 22q13; by FISH
References
- Moessner R et al. (2007). Contribution of SHANK3 mutations to autism spectrum disorders. Am J Hum Genet. 81:1289-1297.
- Phelan MC et al. (2005). Deletion 22q13 syndrome (Phelan-McDermid syndrome). Management of Genetic Syndromes. 2nd ed. SB Cassidy and JE Allanson. Wiley-Liss. 171-181.
- Wilson HL et al. (2003). Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. J Med Genet. 40:575.
