Test Name & Code:
• Test Name: Mitochondrial DNA Deletion Analysis (KS, PEARSON, PEO)
• Test Code: 4628
• Test Code: 4628
Related Diseases & Genes:
• Kearns-Sayre Syndrome (KSS) (OMIM #: 530000)
• PEARSON MARROW-PANCREAS SYNDROME (OMIM #: 557000)
• Progressive external ophthalmoplegia (OMIM #: 157640)
• PEARSON MARROW-PANCREAS SYNDROME (OMIM #: 557000)
• Progressive external ophthalmoplegia (OMIM #: 157640)
Synonyms:
-none-
Test Details:
• Methodology: MLPA
• Performed: Everyday
• Reported: 3 weeks
• Performed: Everyday
• Reported: 3 weeks
Specimen Details:
• 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
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Neurogenetics
