Test catalog
NeoGenoma Omni Trio
NeoGenoma Omni of the patient with joint analysis in a trio design with both biological parents, to support inheritance interpretation.
- Accepted samples
- Peripheral blood (preferred), Buccal swab, Extracted DNA
- Turnaround time and when it starts
- 60 calendar days, after order confirmation
- Medical order
- Required. View requirements and limitations.
Test information
Technical details for NeoGenoma Omni Trio
Method, scope, requirements and limitations
NeoGenoma Omni of the patient with joint analysis in a trio design with both biological parents, to support inheritance interpretation.
- Applications
- Rare and hereditary diseases, Genome-wide investigation, Family analysis
- Accepted samples
- Peripheral blood (preferred), Buccal swab, Extracted DNA
- Estimated turnaround time
- 60 calendar days, after order confirmation
- Methodology
- NeoGenoma Omni (short and long reads) of the patient, with joint analysis in a trio design that includes samples from both biological parents.
- Analytical scope
- Nuclear and mitochondrial genome of the patient, with complementary resolution for structural variants, repeats, pseudogenes and allelic phase, interpreted by parental origin, inheritance model and phenotype.
- Medical order
- Required
Requirements
Medical request with diagnostic hypothesis, phenotype and previous tests. The Trio design assumes samples from the patient and both biological parents.
Limitations
Mosaicism at low allelic fraction is beyond the scope of this methodology. The gain depends on the region, the type of change, the quality of the sample and the validated scope of each module.
Additional information
The main purpose of parental samples is to interpret the patient's case. Additional findings depend on indication, consent and defined scope.
