Genetic TestsPRRT2 Gene Sequencing

• Test Name: PRRT2 Gene Sequencing
• Test Code: 4819

• “Convulsions, familial infantile, with paroxysmal choreoathetosis” (OMIM #: 602066) || Gene: PRRT2 (OMIM #: 614386)
• Episodic kinesigenic dyskinesia 1 (OMIM #: 128200)
• “Seizures, benign familial infantile, 2” (OMIM #: 605751)

• PROLINE-RICH TRANSMEMBRANE PROTEIN 2

• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 4 weeks

• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia

• Dysmorphology
• Neurogenetics