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.
Massively Parallel Sequencing
New York DOH Approval Status
Lavender (EDTA) or yellow (ACD solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
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)
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
|Component Test Code*||Component Chart Name||LOINC|
|2012053||Her. Hemolytic Anemia Seq. Specimen||31208-2|
|2012054||Her. Hemolytic Anemia Sequencing Interp||35474-6|
- Dehydrated hereditary stomatocytosis
- Gilbert syndrome
- Glucose-6-phosphate dehydrogenase deficiency
- Hereditary elliptocytosis
- Hereditary pyropoikilocytosis
- Hereditary spherocytosis
- Pyruvate kinase deficiency
- RBC enzymopathies
- RBC membrane defects