B-Cell and Antibody Deficiency Gene Panel, Varies
Use
This test provides a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited primary B-cell disorder or humoral immunodeficiency. It helps establish the diagnosis, allowing for appropriate management and surveillance based on the gene or variant involved. Furthermore, it identifies variants within genes associated with primary B-cell disorders or humoral immunodeficiencies, facilitating predictive testing of at-risk family members.
Special Instructions
Patients who have had a previous bone marrow transplant from an allogenic donor should not have testing performed on blood, bone marrow, or saliva since results will reflect the donor's genome. Testing is recommended on a skin biopsy or cultured fibroblasts for patients with an active hematologic malignancy or disorder with clonal proliferation.
Limitations
Next-generation sequencing may not detect all types of genomic variants, and regions with homology, high guanine-cytosine content, and repetitive sequences may not be effectively evaluated. False-negative or false-positive results may occur, and coverage for some target regions may be variable. The test does not detect low levels of mosaicism or differentiate between somatic mutations and germline variants.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 97565-6
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 18771-6
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
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. Whole blood collected postnatal from an umbilical cord is acceptable.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a hematopoietic stem cell transplant.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |