Variantyx

How can you distinguish between the diverse molecular causes of late-onset ataxia? Join Christine Stanley’s upcoming presentation at the SERGG annual meeting to see how one whole genome test covering 17 different ataxia repeat expansion genes has solved multiple cases.

We're in Boston at #ISPD 2024 this week. Stop by and see us at booth 204 to learn about our #wholegenome alternative to CMA. Our IriSight™ CNV test provides more complete coverage of structural variants (including inversions, unbalanced translocations and small CNVs), with the option to reflex up to SNV/indel, mitochondrial and STR analysis. All from a single sample. Find out how.

With the FDA’s recently expanded approval of #Elevidys - the first #genetherapy for #Duchenne muscular dystrophy patients – a molecular #DMD diagnosis is more important than ever. Variantyx whole genome testing identifies DMD variants missed by other technologies. Download our case study to see how and why #WeSeeMore ➡️ https://ow.ly/u8Pn50StT8c

Congratulations Dave Keane! We’re proud of the recognition you’ve received from UMDF for your long term, deep commitment to the mitochondrial disease community and for your work to support so many patients and families on their diagnostic journey.

Mitochondrial disorders are hard to diagnose as they can affect each individual differently. See how Genomic Unity® whole genome testing ended a 5+ year diagnostic odyssey by identifying a previously missed heteroplasmic mitochondrial deletion ➡️ https://ow.ly/KtCx50SrbxE

Nuclear and mitochondrial genome analysis is necessary for comprehensive genetic testing of mitochondrial disorders. See how Genomic Unity® whole genome testing covers both, all in one test ➡️ https://ow.ly/vCOB50SrbsL Visit us at Mito Med 2024!

Molecular diagnosis of retinal disorders can be challenging. To ensure comprehensive testing, the technology used must include: ✔️ Coverage of nuclear and mitochondrial genes ✔️ Ability to detect variants in GC-rich and regulatory regions ✔️ Ability to detect copy number variants ✔️ Ability to detect ATXN7 repeat expansions Only Genomic Unity® Retinal Disorders Analysis, based on #wholegenome testing, checks every box ➡️ https://lnkd.in/e6twhzhT

With our whole genome platform we regularly solve cases where the diagnostic variant was missed by prior exome testing. Until now there’s been little formal data measuring the incremental benefit of genome sequencing. That’s changed with a recent study published in NEJM where the authors found a full 8% of diagnoses were possible only with genome sequencing. With such a significant gain genome sequencing is the clear choice. ➡️ https://lnkd.in/dStKj9qs

Did you know Variantyx testing covers 17 different #ataxia repeat expansion genes? Including FGF14, RFC1 and ZFHX3? That's more than any other provider. Learn more about bringing the power of whole #genome testing to your practice ➡️ https://ow.ly/1l5A50SmCRw

The only #epilepsy panel with an automatic reflex option to full #genome analysis. Genomic Unity® Epilepsy Analysis identifies SNVs, structural variants and repeat expansions with possible compound heterozygosity - all in one test. See how we recently identifed a 2kb CDKL5 deletion missed by other tests ➡️ https://ow.ly/OjvG50Sl9yK