ORION

Back to Tests

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)
TAT: 28 Working Days
Rapid TAT15 Working days
Express TAT 7 Working days
  • *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

Pre Test Genetic Counselling
Test Requisition Form (TRF)

I Am Interested To Know More Details

Enquire Now

Accreditations

The above accreditations have been granted to NEUBERG SUPRATECH REFERENCE LABORATORIES PRIVATE LIMITED (NSRL). The Neuberg Center for Genomic Medicine (NCGM) is affiliated to NSRL.