Heterotaxy & Situs Inversus Panel, Sequencing

3002682
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Example Reports
Negative
Positive

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Patient History for Primary Ciliary Dyskinesia/Heterotaxy Testing

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Additional Technical Information

Ordering Recommendation

Use to determine etiology of heterotaxy syndrome in symptomatic individuals.

Mnemonic

HTX NGS

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

14-21 days

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

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

Specimen Preparation

Transport 3 mL whole blood. (Min: 1.5 mL)

Storage/Transport Temperature

Refrigerated

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens

Remarks
Stability

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.

Compliance Category

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

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
06/01/2021
X
N/A

CPT Codes

81479

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Components

Component Test Code* Component Chart Name LOINC
3002683 Heterotaxy and Situs Inversus Specimen 31208-2
3002684 Heterotaxy and Situs Inversus Interp 41103-3
* 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

  • Kartagener syndrome
  • primary ciliary dyskinesia
  • situs ambiguous
  • situs ambiguus
  • situs inversus totalis
Heterotaxy & Situs Inversus Panel, Sequencing