Heterotaxy & Situs Inversus Panel, Sequencing
Also known as: HTX NGS
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
Not provided.
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.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 31208-2 - Specimen source
- 41103-3 - Gene XXX Mut Anl Bld/T
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1.5 mL
Container
Lavender (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant