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?

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

Genome Coverage
Advanced and Sensitive Variant Detection
Enhanced Detection of Variants Associated to SMA, and GD/PD***
Extra Diagnostic Confirmation****

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:

Prior testing did not provide a conclusive diagnosis, like:

A fast diagnosis is a medical necessity and there is not always the time for serial testing strategies, as seen with:

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

We offer flexible testing options and additional services tailored to your patient’s needs, paired with life-long diagnostic support via a free-of-charge and proactive reclassification program.

Options & Additional Services

Turnaround time

Regular: ≤30 business days

Fast: ≤15 business days

Testing design

Solo, Duo, Trio, and Trio PLUS*
Genome wide analysis of structural variants

Chromosomal Microarry Analysis, (CMA)

Raw data

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

Life-long diagnostic support
GetcheckedXome Prenatal
GetcheckedXome MOx

* 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​

Multiomics provides a complete clinical picture – enabling the assessment of disease severity and thus accelerating personalized treatments​


If you have a query, no matter how small or significant we’ll do our best to assist you. You can call us using the number provided or open a Live Chat with one of our agents.
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