Test Name & Code:
• Test Name: KCNJ11 Gene Sequencing
• Test Code: 4786
• Test Code: 4786
Related Diseases & Genes:
• “Diabetes mellitus, permanent neonatal, with neurologic features” (OMIM #: 606176) || Gene: KCNJ11 (OMIM #: 600937)
• “Diabetes mellitus, transient neonatal, 3” (OMIM #: 610582)
• “Diabetes, permanent neonatal” (OMIM #: 606176)
• “Hyperinsulinemic hypoglycemia, familial, 2” (OMIM #: 601820)
• “Maturity-onset diabetes of the young, type 13” (OMIM #: 616329)
• “Diabetes mellitus, transient neonatal, 3” (OMIM #: 610582)
• “Diabetes, permanent neonatal” (OMIM #: 606176)
• “Hyperinsulinemic hypoglycemia, familial, 2” (OMIM #: 601820)
• “Maturity-onset diabetes of the young, type 13” (OMIM #: 616329)
Synonyms:
• “POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11”
• “POTASSIUM CHANNEL, INWARDLY RECTIFYING, BIR SUBUNIT”
• BETA-CELL INWARD RECTIFIER SUBUNIT
• BIR
• NWARDLY RECTIFYING POTASSIUM CHANNEL Kir6.2
• “POTASSIUM CHANNEL, INWARDLY RECTIFYING, BIR SUBUNIT”
• BETA-CELL INWARD RECTIFIER SUBUNIT
• BIR
• NWARDLY RECTIFYING POTASSIUM CHANNEL Kir6.2
Test Details:
• Methodology: Next Generation DNA Sequencing
• Performed: Everyday
• Reported: 4 weeks
• Performed: Everyday
• Reported: 4 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):
• Multisystem Diseases
