Praxis Genomics LLC

Praxis Genomics is celebrating 5 years of solving difficult constitutional and somatic diagnostic problems by publishing a case report with a distinguished clinical scientist, Dr. Uta Francke. We succeed thanks to the combined use and simultaneous analysis of data from short and long read sequencing, optical genome mapping, transcriptomics and epigenomics. We pay special attention to structural variants that might have been overlooked by others. The case report in the latest issue of American Journal of Medical Genetics gives a great illustration of how these technologies can be applied together and provide answers: https://lnkd.in/ecQyHjew If you have a similarly challenging case that you are convinced is genetic, but for which all other companies failed to come up with a diagnosis, give us a call or schedule a free consultation on our website and let us assist you. You will find more information about our testing portfolio at www.praxisgenomics.com We don't close cases until there are solved.

Sad news. As Chief Medical Officer of MNG Labs, (Medical Neurogenetics Laboratories) I have been providing Exome sequencing reporting to Lineagen for several years. I have got to know the fantastic genetic counselor team there. They were taking our reports and provided an interpretation of the findings to the parents of the patients who were predominantly children with autism. When Labcorp bought MNG Labs, I left and started my own company: Praxis Genomics. My goal was to provide the most comprehensive genetic testing possible by combining whole genome sequencing and optical genome mapping using the Bionano Saphyr to diagnose children with developmental problems. Shortly thereafter Bionano bought Lineagen and hired some people that I have trained at Columbia to oversee their exome and microarray operation. I was happy for them and wished them good luck. Last week Bionano stopped accepting new samples for microarray and exome and they have been laid off in an unfortunate turn of events. Hearing the sad news, I offer my assistance to them and the medical offices that they served so well. If you are stuck with your autism samples and do not know where to turn, please do not hesitate to contact Praxis Genomics and we can take up working together where we left off in 2020.

Great news for Praxis Genomics and all those who like and need reasonably priced clinical and research whole genome/transcriptome sequencing. Praxis Genomics is now listed as a Service Provider for Complete Genomics. The Complete Genomics Service Provider Program provides a network of sequencing service providers, offering access to high-quality sequencing services using DNBSEQ™ sequencing platforms. Please contact us at www.praxisgenomics.com to set up a meeting to discuss the logistics of working with us. https://lnkd.in/e2cpYv_v

Come by our booth #1322 to see how the Praxis Genomics testing and pricing approach can work for your patients.

Think clinical complete genome and transciptome analysis in medical diagnostics! Leave microarrays, panels, exomes, bisulfite sequencing, targeted repeat expansions testing, pulse field electrophoresis, radioactive southern blot microsatellite sizing, mitochondrial deletion and depletion testing, FISH and MLPA testing behind. Join Praxis Genomics at Booth 1322 at ACMG in Toronto!

American Medical Association finalized the 2024 Clinical Diagnostic Laboratory Fee Schedule for Praxis Genomics' unique cancer diagnostics portfolio. This is a landmark collection of tests never before offered and will provide a genomics based foundation for cancer diagnosis, prognostication and treatment. 0297U $2919.6 Whole genome sequencing of paired tumor and normal DNA specimens: fresh or formalin-fixed paraffin-embedded (ffpe) tissue, blood or bone marrow, comparative sequence analyses and variant identification 0298U $2919.6 Whole transcriptome sequencing of paired tumor and normal specimens: fresh or formalin-fixed paraffin-embedded (ffpe) tissue, blood or bone marrow, comparative sequence analyses and expression level assessment and chimeric transcript identification 0299U $1863.22 Optical genome mapping of paired malignant and normal dna specimens, fresh frozen tissue, blood, or bone marrow, comparative structural variant identification 0300U $4183.13 Whole genome sequencing and optical genome mapping of paired tumor and normal specimens, fresh tissue, blood, or bone marrow, comparative sequence and optical genome mapping analyses and variant identification Putting your fate into genomics Putting your fate into your own hands

2023 has been a great year and 2024 will be even better! Praxis Genomics introduces Clinical long read whole genome sequencing and methylome testing based on Oxford Nanopore Technology starting Jan. 1. 2024 Great things come in small packages - Miniature poodles know best

ASHG 2023 conference: Exclusive insights from Complete Genomics https://lnkd.in/d3nu4f37

For those of you who would like to hear the new paradigm talk at ASHG. Happy to discuss. https://lnkd.in/gf5Vq4Ka