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Athena #819 Congenital Hyperinsulinism Evaluation
MessageBlood samples should be submitted for proband and both parents, whenever possible Hemolysis may compromise DNA recovery and integrity after 48 hrs
Test Code
819
CPT Codes
81403(1), 81406(2), 81407(1)
Includes
ABCC8 (CH) DNA Sequencing Test, GCK (CH) DNA Sequencing Test, GLUD1 (CH) DNA Sequencing Test, KCNJ11 (CH) DNA Sequencing Test
Preferred Specimen
whole Blood? ? blood samples should be submitted for proband and both parents, whenever possible (for more information, please call Athena?s genetic counselor)
Minimum Volume
10 mL (pediatric minimum: 2 mL)
Instructions
Overnight at room temperature (specimen arrival must be less than 24 hrs after collection)
Transport Container
yellow or lav(EDTA)
Transport Temperature
Room Temp
Specimen Stability
Refrigerated For short periods (until shipped) at 4?C
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
freezing
Methodology
Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding regions of genes
Setup Schedule
M-Th
Report Available
7 days
Reference Range
No mutation detected
Clinical Significance
"Type of Disorder: Pancreas, Congenital Hyperinsulinism
Typical Presentation: persistent hypoglycemia in newborns, Severe
Indications for Testing: Severe, persistent hypoglycemia in newborns or infants
Family history of CH
Disease(s) tested for: Congenital Hyperinsulinism
Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of the genes ABCC8, KCNJ11, GCK, and GLUD1"
Typical Presentation: persistent hypoglycemia in newborns, Severe
Indications for Testing: Severe, persistent hypoglycemia in newborns or infants
Family history of CH
Disease(s) tested for: Congenital Hyperinsulinism
Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of the genes ABCC8, KCNJ11, GCK, and GLUD1"
