Enhanced Whole Exome Sequencing Service
Whole Exome Sequencing (WES) is a comprehensive genetic test that identifies changes in a patient’s DNA that are causative or related to their medical concerns. By focusing on the entire protein-coding regions of the genome – the exome – WES offers you the coverage you need to diagnose patients rapidly and reliably.
Overcoming the Obstacles of Rare Disease Diagnostics with NoorDx
With more than 7,000 identified rare diseases and approximately 80{347d1d850516b847fb13d35e9d84eb7d68ac4f2e99acd242b5b346886954d3d7} being linked to genetic causes, diagnosing rare disease patients can often be difficult – resulting in lengthy, expensive, and emotional diagnostic odysseys.
With WES, this doesn’t have to be the case. Containing the majority (~85{347d1d850516b847fb13d35e9d84eb7d68ac4f2e99acd242b5b346886954d3d7}) of known disease-causing changes, WES uncovers the cause of rare diseases in less time and at a lower overall cost – leading to better patient outcomes. we’ve taken WES to the next level. Enhanced to provide unparallel clinical coverage and diagnostic power in a single test, our product design and medical interpretation utilizes the world’s largest rare disease-centric Bio/Databank containing >31 million unique variants from over 120 countries.
Why choose NoorDx?
Rapid
Delivering results in days
Innovative
Pioneering solutions in genomics testing to save lives
Confidential
Providing the highest levels of patient privacy and advanced data security
World-class
Granting access to a team of expert genetics within our state-of-the-art lab
The Results: Diagnosing complex and unsolved patient cases – quicker and with the highest levels of certainty.
Superior Technology With Unmatched Clinical Coverage and Diagnostic Power in a Single Test
Our service delivers the ideal quality and performance from the world leader and trusted partner in rare disease diagnostics, with outstanding clinical coverage and unmatched clinical diagnostic power in a single test. Coupling insights from our extensive and unique rare disease-centric Bio/Databank with superior omics technology, patients and physicians benefit from a unique approach that increases diagnostic yield by up to 20{347d1d850516b847fb13d35e9d84eb7d68ac4f2e99acd242b5b346886954d3d7} compared to routine WES3-8 via enhanced coverage of the exome, full mitochondrial genome, and known clinically-associated genes and variants.
When is WES Recommended?
We offer flexible testing options and additional services to provide a customized analysis tailored to patients’ needs, such as for ongoing pregnancies with fetal abnormalities to establish a prenatal diagnostis and expedited WES for critically ill patients that need rapid and precise genetic diagnosis.WES diagnostic yield is continuously increasing due to the rapid rate of new gene-disease discoveries, and it is estimated that about 10–20{347d1d850516b847fb13d35e9d84eb7d68ac4f2e99acd242b5b346886954d3d7} of undiagnosed patients can be diagnosed by reclassification and genomic data reanalysis.14
Tailored Services Paired With Life-Long Support
We recommend WES for complex and undiagnosed cases with suspicion of genetic causes.
WES is conventionally recommended when patients present complex, heterogeneous phenotypes that are suggestive of multiple conditions or are otherwise unclear or atypical. WES may also be recommended when a prior genetic test was unsuccessful. The latest clinical evidence also supports WES as a first-line test when a patient’s symptoms or family history suggests a genetic cause of the diseases. This is especially true for neurodevelopmental disorders, including intellectual disability, global developmental delay, and autism spectrum disorder due to the high diagnostic yield.9,10 The ACMG (American College of Medical Genetics and Genomics) recommends the use of exome/genome sequencing as first-tier test for children with intellectual disability, developmental delay, or multiple congenital anomalies.11 The test results from WES may also lead to more rapid diagnoses, improved prevention of symptomatic illness, more targeted treatments or even end the need for some costly or invasive procedures.
We particularly recommend genome or full sequencing for patients when:
e.g., patients with developmental delay, intellectual disability, autism spectrum disorder, epilepsy
e.g., children with global development delay, and/or multiple congenital anomalies, DiGeorge syndrome
e.g., patients with muscular weakness, cardiomyopathy, visual problems
e.g., neonate babies and infants critically ill in Neonatal and Pediatric Intensive Care Units (NICU and PICU, respectively)
e.g., patient with neurodevelopmental delay, with similarly affected siblings, and negative testing with microarrays