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Hereditary Hemolytic Anemia Sequencing, 28 Genes
2012052
Ordering Recommendation

Confirm etiology of hemolytic anemia in individuals with hemolysis or a family history of hemolytic anemia.

Mnemonic
HHA SEQ
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
6-8 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA) or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Refer to report.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
Recent CBC result is required.  Genes tested: ADA, AK1, ALDOA, ANK1, CYB5R3, EPB41, EPB42, G6PD, GCLC, GP1, GSR, GSS, HK1, NT5C3A, PFKL, PGK1,PFKM, PIEZO1, PKLR, SLC4A1, SLCO1B1, SLCO1B3, SPTA1, SPTB, TPI1, UGT1A1, UGT1A6, UGT1A7
CPT Code(s)
81400 (SLCO1B1); 81479
Components
Component Test Code*Component Chart NameLOINC
2012053Her. Hemolytic Anemia Seq. Specimen31208-2
2012054Her. Hemolytic Anemia Sequencing Interp35474-6
* 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
  • ADA
  • AK1
  • ALDOA
  • ANK1
  • CYB5R3
  • Dehydrated hereditary stomatocytosis
  • EPB41
  • EPB42
  • G6PD
  • GCLC
  • GP1
  • GSR
  • GSS
  • Hereditary elliptocytosis
  • Hereditary pyropoikilocytosis
  • Hereditary spherocytosis
  • HK1
  • NT5C3
  • PFKL
  • PFKM
  • PGK1
  • PIEZO1
  • PKLR
  • RBC enzymopathies
  • RBC membrane defects
  • SLC4A1
  • SLCO1B1
  • SLCO1B3
  • SPTA1
  • SPTB
  • TPI1
  • UGT1A1
  • UGT1A6
  • UGT1A7
  • Xerocytosis