Test Name & Code:
• Test Name: Noronal Ceroid Lipofuscinosis (NCL) Genetic Panel
• Test Code: 4691
• Test Code: 4691
Related Diseases & Genes:
• “NCL1, 2,3,4,5,6,7,8,10,11,12,13,14, HARP syndrome, Pycnodysostosis ” (OMIM #: 256730 204500 204200 162350 256731 601780 610951 600143 610127 614706 606693 615362 611726 606157 265800) || Gene: “ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, CTSK, DNAJC5, GRN, KCTD7, MFSD8, PANK2, PPT1, TPP1 “ (OMIM #: )
Synonyms:
-none-
Test Details:
• Methodology: Next Generation DNA Sequencing
• Performed: Everyday
• Reported: 6 weeks
• Performed: Everyday
• Reported: 6 weeks
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Inborn Errors of Metabolism
