Heterotaxy & Situs Inversus Panel, Sequencing

Casandra

Casandra Test Code AR16810Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3002682CPT Code 81479

Heterotaxy & Situs Inversus Panel, Sequencing

Also known as: HTX NGS

Clinical Use

Order Test

Use

This test is used to determine the etiology of heterotaxy syndrome in symptomatic individuals. Heterotaxy syndrome is a developmental defect characterized by the abnormal placement of the abdominal (visceral) organs. Pathogenic variants in genes associated with left-right symmetry in early embryo development are investigated. This condition affects approximately 1 in 10,000 individuals and is causative in about 3% of congenital heart defects cases.

Special Instructions

Counseling and informed consent are recommended for genetic testing. Genetic consultation is indicated, including a discussion of medical screening and management. Informed consent for genetic testing is required for New York patients. A Primary Ciliary Dyskinesia/Heterotaxy Testing Patient History Form should be submitted with the order.

Limitations

A negative result does not exclude a heritable laterality defect. This test detects variants within the coding regions and intron-exon boundaries of the targeted genes but does not identify regulatory region variants and deep intronic variants. The presence of pseudogenes, repetitive or homologous regions, and low-level mosaic or somatic variants may affect the analysis. Noncoding transcripts were not analyzed. The test's analytical sensitivity is approximately 99% for single nucleotide variants and greater than 93% for insertions/duplications/deletions from 1-10 base pairs in size. Variants greater than 10 base pairs may not be detected efficiently.

Test Details

Methodology

NGS (Targeted)

Biomarkers

Mutation (36 genes)

ANKS6ARL2BPARMC4CCDC103CCDC114CCDC151CCDC39CCDC40CFAP298CFAP53CRELD1DNAAF1DNAAF2DNAAF3DNAAF4DNAAF5DNAH1DNAH11DNAH5DNAI1DNAI2DNAL1FOXH1GATA4GATA6INVSLRRC6MMP21NKX2-5NME8NODALPIH1D3PKD1L1SPAG1ZIC3ZMYND10