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.

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA) or yellow (ACD solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)
New York State Clients: Transport 5 mL whole blood. (Min: 3 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
Remarks
Stability

Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

14-21 days

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

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

N/A

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
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

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
Hereditary Hemolytic Anemia Panel Sequencing