Genetic TestsCLN Type 2

• Test Name: CLN Type 2
• Test Code: 3611

• “Ceroid lipofuscinosis, neuronal, 2” (OMIM #: 204500) || Gene: TPP1 (OMIM #: 607998)

• TPP1 Mutation Analysis
• Jansky-Bielschowsky Disease

• Methodology: Qualitative RT-PCR
• Performed: Everyday
• Reported: 2-3 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

• Neurogenetics