4 weeks
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Cultured Cells
Extracted DNA

Rhabdoid tumor predisposition syndrome (RTPS) [OMIM #603254] is characterized by an increased risk of rhabdoid tumors. Rhabdoid tumors are aggressive embryonal neoplasms that most commonly develop in early infancy or childhood. Central nervous system rhabdoid tumors are typically referred to as atypical teratoid/rhabdoid tumors (AT/RT), and extracranial rhabdoid tumors (which commonly occur in the kidneys) are typically referred to as malignant rhabdoid tumors (MRT). Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) has recently been recently reclassified by Foulkes et al. (2014) as a type of rhabdoid tumor, and is also now referred to as malignant rhabdoid tumor of the ovary. SCCOHT typically develops in childhood or early adulthood, with a mean age of diagnosis in the general population of 23 years. Rhabdoid tumors typically carry a poor prognosis and are often fatal.