NEW GetcheckedGenome® – It's Covered
The world’s most comprehensive Whole Genome Sequencing (WGS) tool for diagnosis of rare and neurodegenerative diseases – providing unparalleled genome coverage in a single test.
Getchecked’s Whole Genome Sequencing Service
Establishing a rapid and reliable diagnosis for rare and neurodegenerative diseases can be difficult, even for the most skilled physicians. Thanks to the latest technologies and scientific insights into genetic factors, this no longer has to be the case!
Introducing the world’s most comprehensive Whole Genome Sequencing (WGS) tool for diagnosis of rare and neurodegenerative diseases.
This first-line test combines superior technology powered by a streamlined CE-IVD bioinformatics pipeline and the Getchecked Clinic’s Bio data bank, with approximately 700,000 patients representing over 120 highly diverse countries.
With NEW GetcheckedGenome, you can significantly reduce time and resources to deliver a rapid and reliable diagnosis and identification of treatment options for your patients.
Why Choose Getchecked?
- We offer the world’s largest genetic testing portfolio with 19,000 genes represented
- Our tests offer a proven high diagnostic yield to enable an unparalleled level of certainty
- We work with the hundreds of medical experts – meticulously interpreting, reviewing, and approving genetic lab results
- Our multidimensional approach enables a complete clinical picture for the most holistic diagnosis, prognosis, and monitoring
- We offer best-in-class medical reporting powered by the Getchecked Clinic's Biodatabank with ~700,000 patients from >120 countries
Why Choose GetcheckedXOME?
Advanced Technology for Greater Insights
By implementing Polymerase Chain Reaction (PCR)-free technology, NEW Getchecked Genome significantly reduces bias and provides high-quality sequencing information for difficult-to-sequence genetic regions – enabling greater insights into coding, regulatory, and intronic regions.
Superior Performance for Enhanced Disease Coverage
In leveraging advanced data analysis with CE-IVD bioinformatics and medical expert-based interpretation powered by the Getchecked Biodatabank, NEW Getchecked Genome delivers superior variant detection.
Integrated Variant Reclassification and Confirmatory Testing for a Life-Long Commitment
As a world leader and trusted partner, Getchecked Clinic provides a free-of-charge and proactive diagnosis confirmation and variant reclassification program.
With NEW GetcheckedGenome, you can significantly reduce time and resources to deliver a rapid and reliable diagnosis and accelerate treatment options for your patients.
Superior Technology With Unparalleled Clinical Coverage
Serving as a first-line test, NEW GetcheckedGenome is the most comprehensive commercially available WGS test on the market for both rare and neurodegenerative disorders – covering almost all disease-causing variants, including most known repeat expansions associated with neurological diseases, in a single assay1. NEW GetcheckedGenome also detects Copy Number Variations (CNVs) associated with Spinal Muscular Atrophy (SMA), as well as disease-causing variants associated with Gaucher Disease (GD) and susceptibility to GBA1-related Parkinson’s Disease (PD), with the highest levels of sensitivity.
The newly designed WGS assay leverages a PCR-free approach. This significantly diminishes the typical bias induced by PCR and provides higher quality sequence data across the typically challenging regions of the genome by enabling more uniform coverage and superior performance in variant.
Features & Performance
- Average depth coverage ≥30x
- Highly uniform and nearly complete coverage of the nuclear genome (>20,000 genes), and complete mitochondrial genome (37 genes), with >97% of the genome covered at ≥10x
- Detection of SNVs, InDels, SVs, including CNVs of exon-level to cytogenomic-level changes, and mtDNA with heteroplasmy ≥ 15%
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Sensitivity
SNVs and InDels (≤ 50 bp) >99.9%
CNVs >95.0%
Specificity of > 99.9 % is guaranteed for all reported variants* - UPD detection** for the well-known clinically relevant chromosomal regions: 6q24, 7, 11p15.5, 14q32, 15q11q13, 20q13, and 20
- Repeat expansion detection** in 23 well-known genes associates with neurological diseases: AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, CACNA1A, CNBP, CSTB, C9ORF72, DMPK, FMR1, FXN, HTT, JPH3, NOP56, PABPN1, PHOX2B, PPP2R2B, PRNP, and TBP
- Spinal Muscular Atrophy (SMA): SMN1/SMN2 CNV analysis
- Gaucher Disease (GD)/Parkinson's Disease (PD): GBA1 including conversion analysis with its pseudogene GBAP1
- Guaranteed internal confirmatory testing by an orthogonal method for all reported variations associated with repeat expansion diseases, UPD, SMA, and GD/PD
- Getchecked's fully automated CE-IVD bioinformatics software covers all known disease-causing variants published in public databases (HGMD®, ClinVar, Mastermind) and the Getchecked Biodatabank
SNVs: single nucleotide variants; InDels: small insertions/deletions; CNVs: copy number variations; UPD: uniparental disomy; mtDNA: mitochondrial DNA
*UPD screening is performed using an in-house specific algorithm for the following well-known clinically relevant chromosomal regions: 6q24, 7, 11p15.5, 14q32, 15q11q13, 20q13 and 20
**CNV detection software has a sensitivity >95.0% for all homozygous/hemizygous and mitochondrial deletions, as well as heterozygous deletions/duplications and homozygous/hemizygous duplications spanning at least three consecutive exons
***Variants with low quality and/or unclear zygosity are confirmed by orthogonal methods (i.e., SNVs and InDels by Sanger sequencing; CNVs by Multiplex ligation-dependent probe amplification, MLPA; quantitative polymerase chain reaction, qPCR; or chromosomal microarray, CMA)
When is WGS Recommended?
NEW Getchecked Genome is the ideal solution for diagnosing rare and neurodegenerative diseases. It serves as a first-line test to identify a molecular diagnosis in patients with suspected genetic disorders, or as a second-line test for patients with negative results from previous genetic testing. NEW Getchecked Genome offers a potentially cost-effective alternative to establish a molecular diagnosis compared to performing multiple independent molecular assays.
Recent studies and Medical Genetic Society Statements and Recommendations on clinical WGS support it as a first- or second-line diagnostic test when a patient’s symptoms or family history suggests a genetic cause of the diseases.2-6 This is especially the case when the clinical diagnosis is associated with a high level of genetic heterogeneity and when WGS results in a relevant clinical improvement and/or is a more cost-effective approach. For example, the American College of Medical Genetics and Genomics (ACMG) recommends the use of exome/genome sequencing as first-tier tests for children with intellectual disabilities, developmental delays, or multiple congenital anomalies.5 We particularly recommend NEW Getchecked Genome for patients in the following cases:
The symptoms are very broad, complex, or unspecific, not pointing towards specific disease or typical phenotype, as:
- Clinical or genetic heterogeneity (e.g., intellectual disability/developmental delay, epilepsy, muscular dystrophies/muscular disorders, ataxia, neuropathies, cardiomyopathies, skeletal dysplasias, immunodeficiency, deafness, blindness)
- Diseases or patients with atypical clinical presentations or phenotypes (e.g., patient with intracranial aneurysm due to PKD1 gene – polycystic kidney disease)
- Patients with 'blended' clinical presentations and clinical suspicion of dual diagnosis (e.g., patient with deafness and ichthyosis, intellectual disability, and severe immunodeficiency)
- Suspicion of a microdeletion or microduplication syndrome (e.g., patients with neurodevelopmental delay, multiple dysmorphisms and/or malformations, growth delay)
- Suspicion of a mitochondrial disorder (e.g., patient with muscular weakness, cardiomyopathy, visual problems)
Prior testing did not provide a conclusive diagnosis, like:
- Patient with autosomal dominant spastic paraplegia, but a negative result for the gene panel
- Patient with neurodevelopmental delay and similarly affected siblings, but a negative testing with microarrays and WES
- Any case where a genetic disorder is suspected but WES is negative
A fast diagnosis is a medical necessity and there is not always the time for serial testing strategies, as seen with:
- Patients severely ill for whom a diagnosis may direct or alter medical management (e.g., children with seizures, hypotonia, neurological abnormalities, and a rapidly deteriorating clinical status)
- Newborns, babies and children where a rapid diagnosis is crucial for prognosis and treatments decisions (e.g., critically ill newborns and children in the neonatal and pediatric intensive care, NICU and PICU)
Our most recent study, where we present the largest cohort of patients with WGS performed in a clinical setting to date, demonstrated the diagnostic strength of WGS as the most comprehensive genetic test and its strengths compared to WES.7 The results also support that WGS should be considered the 'standard of care' for genetic testing, as well as a first-line stand-alone test for rare disease patients.
Tailored Testing and Life-Long Diagnostic Support
We offer flexible testing options and additional services to provide solutions tailored to the needs of your patients. Our services include WGS for ongoing pregnancies with fetal abnormalities for prenatal diagnostics, GetcheckedGenome Prenatal, and cutting-edge multiomic WGS solutions, GetcheckedGenome MOx, which enable early diagnosis, better prognosis, and optimized treatment options. For more details, please see the table below.
When a rapid diagnosis is a medical necessity
A rapid diagnosis can be critical for timely and appropriate medical intervention. Several recent studies demonstrate how the high diagnostic yield and short turnaround time of WGS enables improved clinical decision making in critically ill newborn infants and children in the NICU and PICU.8-12 NEW Getchecked Genome, with a turnaround time as fast as 15 days or less, acts as a comprehensive and accurate tool that will potentially improve critical decision making when used as a first-line test for diagnosing critically ill newborns or children
Committed to Improving the Lives of Patients
Options & Additional Services
Turnaround time
Fast: ≤15 business days
Testing design
Chromosomal Microarry Analysis, (CMA)
Raw and processed data (files in FASTQ, BAM and VCF format along with filtered and annotated variant file(s) in XLS format) for further research available, free of charge for download via portal for a period of 30 days
- Proactive variant-level reclassification at no extra cost**
- Case-level reanalysis at an affordable cost in case of uncertain or negative results
- Powerful cutting-edge genomic test for prenatal diagnostics (ongoing pregnancy) when fetus structural abnormalities detected on ultrasound, or a diagnosis cannot be obtained using routine prenatal methods
- Expedited and prioritized testing (≤ 15 business days) includes cell culture and maternal contamination testing
- Cutting-edge multiomic WGS testing solution indicated for patients with suspicion of rare genetic diseases, especially when presenting complex and overlapping symptoms
- Multiomics (MOx) allows for orthogonal confirmation of disease, accelerating the diagnostic path by avoiding stepwise testing
* Solo: only the affected index patient is tested; Duo: index patient and affected or unaffected family member are tested; Trio: index patient and two family members, affected or unaffected are tested; PLUS: additional family member beyond Trio is tested.
Mitochondrial genome analysis is performed only for the index patient and maternal samples, and CMA analysis is only performed for the index patient
** Case reanalysis is available only for orders with original sequencing data from August 2020 onwards. More details about Variant Reclassification Program
*** We do not offer WGS-based CNV, mitochondrial genome, UPD, repeat expansions, SMN1/SMN2 CNV and GBA1 conversion analysis with Getchecked Clinic’s Prenatal due to technical limitations. More details about Prenatal Testing
**** More details about our Multiomic Solutions at MOx
Best-in-Class Medical Reporting and Advanced Insights
Pinpointing the disease-causing variants among millions is challenging. NEW Getchecked Genome leverages our experience in analyzing tens of thousands of genomes/exomes from patients worldwide to help you diagnose patient with suspicion of genetically linked disorders.
When choosing our WGS, physicians, patients, and partners can feel confident that they will receive high-quality sequencing, based on state-of-the-art WGS PCR-free technology, combined with best data analysis and interpretation, documented in comprehensive medical reports.
By combining deep phenotype data with genotype data using our fully automated CE-IVD bioinformatics for genomic diagnostics, Getchecked accurately identifies and prioritizes disease-causing variants to deliver best-in-class clinical interpretation and reporting. A team of highly trained clinical geneticists and scientists interpret the data and cross-check every medical report. We perform internal confirmatory testing free-of-charge using orthogonal methods when necessary and use the Getchecked Biodatabank to confirm results and validate variant pathogenicity.
Why Choose Getchecked?
Integrated genomic and biochemical testing facilitates the decision on the pathogenicity of clinical variants leading to higher diagnostic yield
Biochemical testing allows for orthogonal confirmation of disease – accelerating the path to a diagnosis by avoiding stepwise testing
