RET-related Hirschsprung disease
Use
Hirschsprung disease (HSCR) is a multi-genic congenital disease of the large intestine characterized by the absence of neuronal ganglia, colon enlargement, and constipation. The RET-related Hirschsprung disease test focuses on the analysis of the RET gene, known to be associated with the condition. This gene sequence analysis aims to identify potential variants that could be pathogenic or likely pathogenic, thereby impacting clinical management of the disease.
Special Instructions
Family variant testing is available at no additional cost for blood relatives of patients who undergo full gene sequencing, panel testing, or exome sequencing and are found to have pathogenic variants. Testing must occur within 90 days of the initial report date. Ambry Genetics' family testing services are exclusive to patients receiving medical care in the U.S or US territories.
Limitations
The test focuses on detecting variants in the RET gene through high-throughput sequencing techniques such as NGS and may not identify all possible genetic abnormalities associated with Hirschsprung disease. Sequence analysis includes all coding regions and key intronic regions but may not detect all potential intronic and non-coding region mutations. Technical limitations involve insufficient read depth, presence of pseudogenes, and incomplete variant coverage, potentially affecting test accuracy.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Causes for Rejection
Blood from patients with a history of allogenic bone marrow or stem cell transplant should not be used. An alternative specimen should be considered in such cases.