Red Blood Cell Enzyme Disorders Gene Panel, Next-Generation Sequencing, Varies
Use
This test provides a comprehensive genetic evaluation for individuals with a personal or family history suggesting an underlying red blood cell enzymopathy. It is instrumental in identifying variants within genes that are associated with phenotypic severity, allowing for predictive testing and further genetic counseling. Identification of a disease-causing variant can assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for inherited red blood cell enzymopathies.
Special Instructions
Not provided.
Limitations
Next-generation sequencing may not detect all types of genomic variants. In rare cases, false-negative or false-positive results may occur. The limitations include technical constraints in regions with high GC content, repetitive sequences, or homology. The test is not confirmed to detect low levels of mosaicism or differentiate between somatic and germline variants. Genes shown might be updated based on emerging clinical relevance.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 107542-3 - RBC enzyme dis multi anl Bld/T
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 59465-5 - Path Rev
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or Yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |