Heterotaxy

Synonyms: -

Material:

EDTA blood
(1 ml)

TAT:

3-6 weeks

Method:

NGS, CNV

Overview

Heterotaxy refers to a condition in which affected individuals show isolated situs inversus, which may be accompanied by heart defects or organ malformations such as asplenia or polysplenia. Although causal variants in several genes have been described, these can explain only about 10–20% of cases. Heterotaxy is frequently inherited in an autosomal dominant manner, although other inheritance patterns have also been described.

Heterotaxy

13 Gene(s)*

ACVR2B

CFAP53

CRELD1

DNAH11

DNAH5

DNAI1

GDF1

LEFTY2

MMP21

NODAL

NPHP4

PKD1L1

ZIC3

Clinical description

Frequency

Causes

Inheritance

Differential diagnosis

References

Created by

Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

Last Update : 25.09.2026

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