ALDOB Comprehensive - Sequence & Deletion/Duplication Analysis
Use
The ALDOB Comprehensive - Sequence & Deletion/Duplication Analysis is performed to identify pathogenic variants associated with hereditary fructose intolerance. This metabolic disorder is caused by a deficiency of the enzyme aldolase B, necessary for digesting fructose. Symptoms appear in infancy upon the introduction of fructose or sucrose, leading to abdominal pain, vomiting, and diarrhea. If untreated, it may result in severe low blood sugar, intellectual disability, liver damage, and even death. Severity varies among individuals.
Special Instructions
This test should be ordered for individuals who exhibit symptoms consistent with hereditary fructose intolerance or have a family history of the condition. It may also be indicated for carrier screening in patients planning future pregnancies. If a variant has previously been identified in an affected family member, test codes 3126 or 3128 should be utilized instead for known single nucleotide variants or familial deletion/duplication analysis, respectively.
Limitations
Not provided.
Methodology
Other
Biomarkers
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Unknown)
Volume
3-5 cc
Minimum Volume
3 cc
Container
EDTA (purple-top) tube
Collection Instructions
Draw blood in an EDTA (purple-top) tube(s) and send.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hrs |
| Frozen | Specimen cannot be frozen. |