Severe Congenital and Cyclic Neutropenia Gene Panel, Varies
Use
This test provides a genetic evaluation for patients with a personal or family history suggestive of severe congenital neutropenia and/or cyclic neutropenia. It aids in diagnosing an inherited congenital neutropenia, allowing for appropriate management and disease feature surveillance based on the involved gene. Identification of a disease-causing variant assists with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for severe congenital neutropenia and cyclic neutropenia.
Special Instructions
If a patient has undergone a previous bone marrow transplant from an allogenic donor, it will interfere with testing. It's important to call the provided contact number for further instructions about testing patients in this situation. The shipping instructions prefer the specimen to arrive within 96 hours of collection. Additionally, informed consent is required for New York clients, and appropriate documentation must be provided.
Limitations
Next-generation sequencing (NGS) may not detect all genomic variants. False-negative or false-positive results can occur, notably for regions with homology, high GC content, or repetitive sequences. Negative results do not rule out a genetic disorder. Regions that cannot be effectively evaluated are due to technical assay limitations. Delins above certain base pair sizes are less reliably detected. The test does not detect low levels of mosaicism or differentiate between somatic and germline variants. Potentially inaccurate results may arise if an allogeneic hematopoietic stem cell transplant or a recent non-leukoreduced blood transfusion has occurred, due to donor DNA presence. Certain deletion or duplication events extending past the included genes may not be reported.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 62364-5
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. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |