Ordering Recommendation
Use to determine etiology, elicit inheritance pattern, and assess recurrence risk in individuals with unexplained hemolytic anemia, unexplained hyperbilirubinemia (neonates), and family history of unexplained hemolytic anemia.
Mnemonic
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
14-21 days
New York DOH Approval Status
Specimen Required
Lavender (EDTA) or yellow (ACD solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Refrigerated.
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
Refer to report.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration. This test was performed in a CLIA-certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
Note
Recent CBC result is required.
GENES TESTED: AK1, ALDOA, ANK1, CDAN1, CYB5R3, EPB41, EPB42, G6PD, GCLC, GPI, GSR, GSS, HK1, NT5C3A, PFKM, PGK1, PIEZO1, PKLR, SEC23B, SLC4A1, SLCO1B1, SLCO1B3, SPTA1, SPTB, TPI1, UGT1A1, UGT1A6, UGT1A7
Hotline History
CPT Codes
81443
Components
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
2012053 | Her. Hemolytic Anemia Seq. Specimen | 31208-2 |
2012054 | Her. Hemolytic Anemia Sequencing Interp | 35474-6 |
Aliases
- Dehydrated hereditary stomatocytosis
- Gilbert syndrome
- Glucose-6-phosphate dehydrogenase deficiency
- Hereditary elliptocytosis
- Hereditary pyropoikilocytosis
- Hereditary spherocytosis
- Pyruvate kinase deficiency
- RBC enzymopathies
- RBC membrane defects
- Xerocytosis