|
Test Catalog
|
|
Congenital Hyperinsulinism Evaluation |
#819 |
|
| 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 |
|
| Test Details |
|
| Test Code: |
819 |
|
| Profile includes: |
ABCC8 (CH) DNA Sequencing Test, GCK (CH) DNA Sequencing Test, GLUD1 (CH) DNA Sequencing Test, KCNJ11 (CH) DNA Sequencing Test
|
|
| Informed Consent Required: |
Yes |
|
| Medicare ABN Required: |
Yes |
|
| Special Notes: |
Blood samples should be submitted for proband and both parents, whenever possible. |
|
| Technical Information |
|
| Utility: |
Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of the genes ABCC8, KCNJ11, GCK, and GLUD1 |
|
| Methodology: |
Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding regions of genes |
|
| Reference Value: |
No mutation detected |
|
| CPT Code(s): |
83891(1), 83898(65), 83904(65), 83909(1), 83912(1) |
|
| Patents: |
6,054,313 |
|
| Shipping Considerations |
|
| Preferred Specimen Requirements |
| Type: |
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: |
10ml (pediatric minimum: 2 ml) |
| Collection Tube: |
Yellow or lavender top |
| Stability: |
Hemolysis may compromise DNA recovery and integrity after 48 hrs |
|
| Alternate
Specimen Requirements |
| Type: |
Whole blood - blood samples should be submitted for proband and both parents, whenever possible (for more information, please call Athena's genetic counselor) |
|
| Storage Conditions: |
For short periods (until shipped) at 4°C |
|
| Shipping Conditions: |
Overnight at room temperature (specimen arrival must be less than 24 hrs after collection); ship Monday through Thursday only |
|
| Test Turnaround: |
7-14 days |
|
|
[back to top]
|
