Whole Genome Sequencing
Providing the Most ComprehensiveGenomic Insights with One Test
Benefits of Whole Genome Sequencing
Whole genome sequencing is the most efficient, accurate, and actionable test to end a diagnostic odyssey, or prevent it from even beginning.
Whole genome sequencing (WGS), also called genome testing, examines a person’s entire genome, including the protein-coding regions (called exons) and the non-coding regions (called introns). As a result, it is the most comprehensive genetic testing option available and enables the greatest chance of uncovering a genetic diagnosis.
The Power of the Trio
When both biological parents* include samples along with the patient, this is known as “trio” testing. Leveraging this additional data, trio testing can improve genetic data interpretation, contribute to a faster, clearer diagnosis, and reduces the need for subsequent genetic testing. Trios have been demonstrated to:
Increase the diagnostic yield by 7-15%
Decrease the variant of uncertain significance (VUS) rates (18.9%, vs. 27.6%)
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* When biological parents are not available, other relative samples can be used for trio testing.
Orla Health Genome Products
Genome testing is ideal for determining a clinical diagnosis, identifying genes implicated in genetic disease, and assisting with risk assessment for relatives.
Orla GenSeq®
Sequences an individual’s nuclear genome and includes evaluation and analysis of both the protein-coding and non-coding regions.
Additional test information:
One-time reanalysis included at no additional charge. (We generally recommend ordering reanalysis when new clinical indications develop or at least 18-24 months after the return of the original results.)
Includes testing for congenital myotonic dystrophy (DMPK) and fragile X syndrome (FMR1) due to repeat expansions Includes mitochondrial genome sequencing and deletionanalysis
TEST CODES
J774a (Trio)
J774e (Duo)
J774b (Proband)
Proband/patient sample requirements:
Blood (2-5mL in EDTA, lavender top, tube)
Parent/relative sample requirements:
Blood (2-5mL in EDTA, lavender top, tube) orBuccal (2 swabs)
Turnaround time (TAT)*
4 weeks
Mitochondrial genome test written report within 3-4 weeks
GenSeq Xpress
®
Includes all the benefits of GenSeq testing, but with a rapid turnaround time.
Additional test information:
One-time reanalysis included at no additional charge. (We generally recommend ordering reanalysis when new clinical indications develop or at least 18-24 months after the return of the original results.)
Includes testing for congenital myotonic dystrophy (DMPK) and fragile X syndrome (FMR1) due to repeat expansions Includes mitochondrial genome sequencing and deletionanalysis
TEST CODES
TH78a (Trio)
TH78e (Duo)
TH78b (Proband)
Proband/patient sample requirements:
Blood (2-5mL in EDTA, lavender top, tube)
Parent/relative sample requirements:
Blood (2-5mL in EDTA, lavender top, tube) or Buccal (2 swabs)
Turnaround time (TAT)*
Provisional results within 5-7 days
Written report within 14 days
Mitochondrial genome test written report within 3-4 weeks
The Orla Health Difference
Orla Health has sequenced more than 665,000 clinical exomes and genomes and over 100,000 mitochondrial genomes, allowing us to build one of the largest and most sophisticated proprietary genomic datasets. This enables us to deliver more definitive answers and clinically actionable results faster.
What’s more:
For more than 20 years, we’ve been the trusted experts in delivering genomic health insights
We have extensive experience with repeat expansion disorders
You and your patients have access to our dedicated team of genetic experts to assist every step of the way
We also recognize that our understanding of genetic information changes over time. That’s why we offer a one-time no-charge reanalysis.