Test Name & Code:
• Test Name: KCNQ2 Sequencing
• Test Code: 3877
• Test Code: 3877
Related Diseases & Genes:
• “Epileptic encephalopathy, early infantile, 7” (OMIM #: 613720) || Gene: KCNQ2 (OMIM #: 602235)
• Myokymia (OMIM #: 121200)
• “Seizures, benign neonatal, 1” (OMIM #: 121200)
• Myokymia (OMIM #: 121200)
• “Seizures, benign neonatal, 1” (OMIM #: 121200)
Synonyms:
• “POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY Q, MEMBER 2”
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 2 weeks
• Performed: Everyday
• Reported: 2 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):
• Neurogenetics
