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Heterotaxia, Heterotaxia Situs Inversus
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Description
Heterotaxia (coming from the Greek ‘heteros’ meaning different and ‘taxis’ meaning arrangement) is the right/left transposition of thoracic and/or abdominal organs. It encompasses a wide variety of disorders since there are multiple possibilities of right/left reversals, which may be complete (situs inversus totalis or situs inversus i.e. all the organs normally found on the right are on the left and vice versa) or partial (incomplete situs inversus i.e. a limited number of organs are inversed – or situs inversus ambiguous i.e. a normally lateral organ is centrally located). In patients with heterotaxia, mutations have been identified in several genes.
External Information
Click here for more information about the Heterotaxia, Heterotaxia Situs Inversus genetic test.Additional information
Samples | EDTA, LA, VC |
---|---|
Method of testing | NGS |
Turnaround Time (TAT) | 30-40 days |
Number of Genes | 30 |
Genes / Chromosomes / SNPs | ACVR2B, CCDC103, CCDC39, CCDC40, CFC1, CRELD1, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DYX1C1, FOXH1, GJA1, HEATR2, HYDIN, INVS/HPHP2, KTU, LEFTY2, LRRC50, LRRC6, NKX2-5, NODAL, OFD1, RPGR, RSPH4A, RSPH9, TXNDC3, ZIC3 |
External Information | Click here for more information about the Heterotaxia, Heterotaxia Situs Inversus genetic test. |