TPSAB1 Copy Number Analysis by ddPCR
Ordering Recommendation
Use to assess TPSAB1 copy number variants in the diagnosis of hereditary alpha-tryptasemia (HaT). Consider in individuals with confirmed or suspected systemic mastocytosis or mast cell activation syndrome. Increased TPSAB1 copy number variants may also be associated with serum tryptase at or above 8 ng/mL, severe allergic reactions, recurrent anaphylaxis, skin flushing and pruritis, itching, Ehlers-Danlos syndrome or other connective tissue abnormalities, severe postural orthostatic tachycardia syndrome or other systemic venom reactions, gastroparesis, irritable bowel syndrome, dysautonomia, sleep disruption, and other systemic immediate hypersensitivity reactions.
New York DOH Approval Status
Specimen Required
Whole blood or bone marrow in lavender (EDTA) preferred. Also acceptable: Green (sodium heparin)
Whole Blood: Do not freeze. Transport 5 mL whole blood. (Min: 1 mL)
Bone Marrow: Do not freeze. Transport 3 mL bone marrow. (Min: 1 mL)
Refrigerated.
Plasma, serum, FFPE tissue blocks/slides, or fresh or frozen tissue. Specimens collected in anticoagulants other than EDTA (purple) or sodium heparin (green). Clotted or grossly hemolyzed specimens.
Refrigerated: 7 days; Frozen: Unacceptable
Methodology
Droplet Digital PCR (ddPCR)
Performed
Varies
Reported
10-14 days
Reference Interval
Interpretive Data
Refer to report.
Laboratory Developed Test (LDT)
Note
Hotline History
Hotline History
CPT Codes
81479
Components
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
3017400 | TPSAB1, Source | 31208-2 |
3017401 | Alpha-tryptase Copy Number | 82155-3 |
3017402 | Beta-tryptase Copy Number | 82155-3 |
3017403 | TPSAB1 Interp | 101397-8 |
Aliases
- Recurrent anaphylaxis
- Cutaneous mastocytosis (CM)
- Hereditary alpha tryptasemia (HaT)
- Hypertryptasemia
- Idiopathic MCAS
- Mast cell activation syndrome (MCAS)
- Tryptase alpha-1/beta-1 (TPSAB1)
- Secondary MCAS
- Systemic mastocytosis (SM)
- Mast cell disorders
- Autosomal dominant
- Copy number variation (CNV)