|
Test Catalog
|
|
Neonatal Diabetes Mellitus Evaluation |
#844 |
|
| Type of Disorder: |
Diabetes |
|
| Typical Presentation: |
Insulin-sensitive hyperglycemia in newborns |
|
| Indications for Testing: |
Insulin-sensitive hyperglycemia in newborns or infants
Family history of neonatal diabetes mellitus |
|
| Test Details |
|
| Test Code: |
844 |
|
| Profile includes: |
GCK (NDM) DNA Sequencing Test, IPF1 (NDM) DNA Sequencing Test, KCNJ11 (NDM) DNA Sequencing Test
|
|
| Informed Consent Required: |
Yes |
|
| Medicare ABN Required: |
Yes |
|
| Special Notes: |
N/A |
|
| Technical Information |
|
| Utility: |
Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of the genes IPF1, KCNJ11, and GCK |
|
| 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(17), 83904(17), 83909(1), 83912(1) |
|
| Patents: |
6,274,310 |
|
| Shipping Considerations |
|
| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10 ml (pediatric minimum: 2 ml) |
| Collection Tube: |
Yellow or lavender top |
| Stability: |
Hemolysis may compromise DNA recovery and integrity after 48 hrs |
|
| Storage Conditions: |
For short periods (until shipped) at 4oC |
|
| 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]
|
