Diagnosed is a rare disease diagnostics service unlike any other. It combines whole genome sequencing on the Illumina HiSeq X Ten with our critically acclaimed genome analysis platform, which includes analysis of SNVs, CNVs and SVs. Using this powerful combination of the latest sequencing technology and expert analysis, we are confident that we can provide a genetic diagnosis for rare diseases in areas such as intellectual disability, dysmorphisms, metabolic conditions, blindness and deafness. In fact, we’re so confident in our WGS analysis, that if we’re unable to return a plausible candidate variant, we will fully refund interpretation costs*.
Thanks to Diploid, we were able to diagnose cases that were left undiagnosed by any other company.
Department of Medical Genetics
King Faisal Specialist Hospital & Research Center, Saudi Arabia
Send us blood or saliva samples. We take care of DNA extraction.
We sequence the genome on an Illumina HiSeq X Ten at 30x in a CAP and CLIA certified lab.
We analyse the data using our genome analysis platform, which has received accolades from Genomics England and from hospitals worldwide.
We write up a clinical report, which is carefully reviewed and signed by a certified MD with a PhD in medical genetics, and send it back to you as a PDF.
If we can’t find a plausible variant to explain the patient’s phenotype (either an SNV, CNV or SV), we will refund the interpretation costs — you’ll only pay for sequencing and logistics.
We offer volume discounts. Contact us for more information or a personalised quote.
We return a report within 10-12 weeks of receiving the sample.
We also offer a fast track version, returning reports within 4-5 weeks. Please contact us for pricing info.
Our analysis system is more than just a pipeline - we have developed an entire genome analysis platform. This platform includes advanced and unique algorithms for ranking variants and linking them to human phenotypes. As a result, our platform for genome analysis and reporting was selected as one of the very best worldwide in the Genomics England annotation assessment.
We don’t stop at SNV analysis, however: our platform includes a cutting-edge CNV analysis system, which is 10x more sensitive than more traditional methods such as arrayCGH. While arrayCGH can’t detect CNVs smaller than 10,000 - 20,000 bp, our platform can call CNVs as small as 300 bp. This means, we can detect smaller, disease-causing CNVs that would otherwise be overlooked by even the most sensitive arrays.
Combine this platform with our team’s expertise in medical genetics and bioinformatics, and the result is a high performance genome interpretation service with a proven track record.
Quality is a key differentiator for our Diagnosed service. Our lab is CLIA and CAP certified. Our data centre has ISO27001 certification and has completed multiple SAS70 Type II audits. We use 256-bit SSL encryption for all data both in storage and in transit.
* Analyses must be in the areas of intellectual disability, epilepsy, dysmorphism, metabolic conditions, neuromuscular disorders, blindness and deafness. Plausible candidate variants are defined as variants in ACMG classes Pathogenic, Likely Pathogenic or VUS, are rare in the population (<2%) and are associated with a gene that has been linked to the phenotype. If no plausible candidate variant is reported, we will refund $800.