TAT: 28 Working Days
ORION
Comprehensive Backbone:
More than Just Exome!
Whole Exome
CNV Calling *
Mitochondrial Genome
Coverage:
Inclusive Of
>19,000 genes * *
100X Mean Depth
>95% Coverage @20X
Customized Gene Curation:
Towards Evidence Based Medicine
Phenotype Specific
Regularly Updated Gene Lists
Enhanced Variant Calling:
Enriching Analysis!
Customized Pipeline
Extensively Validated
Expert Variant Annotation:
Adding Relevance to Reporting!
Gene-Disease Association
Variant-Disease Association
Best-in-Class Reports:
Peer reviwed by:
Bionformatician
PhD Scientist
Genetic Counselor
Clinical Geneticist
Indications:
- Suspected specific genetically heterogeneous phenotype
- Only genes with a moderate gene-disease sensitivity are included in panels
Available as:
- Single/ Duo/ Trio Analysis
Acceptable Samples:
- Whole blood EDTA
- Dried Blood Spot (DBS)
- Extracted DNA:
- Chorionic Villus Sampling/Biopsy (CVS)
- Amniotic Fluid (AF)
- *CNV calling is validated for multi-exon CNV (>/= 3)
- Confirmation of detected CNV’s by an alternate method is recommended
- ** Sequencing included coding region with +/-10 bp are included
PRENATAL NGS
- Whole exome sequencing with CNV calling on amniotic fluid / chorionic villus sampling.
- Mitochondrial Genome sequencing is NOT PERFORMED.
- Available as: Trio (Parents + Fetus) / Duo (Previous affected + Fetus) or Singleton analysis
Indications:
Family history of a known genetic disorder
- Copy of the diagnostic test reports, which confirmed the genetic disorder, is mandatory
- In the absence of any confirmed etiology, prenatal testing is not recommended
Antenatal detection of fetal malformations
- Trio sequencing is ideally recommended
- Chromosomal microarray is the recommended first line of testing
Pre-requisite:
Maternal Cell Contamination testing (MCC) is MANDATORY