Ordering Recommendation
Use to determine etiology of heterotaxy syndrome in symptomatic individuals.
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: 1.5 mL)
Refrigerated
Serum or plasma; grossly hemolyzed or frozen specimens
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
Genes tested: ANKS6*, ARL2BP, ARMC4*, CCDC103*, CCDC114*, CCDC151, CCDC39, CCDC40*, CFAP298*, CFAP53, CRELD1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5*, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2*, DNAL1, FOXH1, GATA4, GATA6*, INVS, LRRC6, MMP21, NKX2-5, NME8, NODAL, PIH1D3, PKD1L1*, SPAG1*, ZIC3, ZMYND10
* One or more exons are not covered by sequencing for the indicated gene; see Additional Technical Information
Hotline History
Hotline History
CPT Codes
81479
Components
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
3002683 | Heterotaxy and Situs Inversus Specimen | 31208-2 |
3002684 | Heterotaxy and Situs Inversus Interp | 41103-3 |
Aliases
- Kartagener syndrome
- primary ciliary dyskinesia
- situs ambiguous
- situs ambiguus
- situs inversus totalis