Variantyx ads

A 10-year-old recently presented with symptoms of peripheral neuropathy mixed with gait imbalance and ataxia. Frustrated by a lack of diagnosis after targeted panel and exome testing were both negative, the clinician and family turned to Variantyx whole genome testing. Learn more: https://lnkd.in/empcQRTy What was the diagnosis? Join Christine Stanley, PhD, FACMG as she walks through the findings in this and other cases during the December 3rd webinar: Unlocking Ataxia Diagnosis: The Advantage of Whole Genome Sequencing. Please be sure to register in advance: https://lnkd.in/e42SZy-Z

How many repeat expansion genes does your genetic test provider cover? At Variantyx, our comprehensive whole genome platform analyzes up to 18 different ataxia repeat expansion genes. This made all the difference for a recent patient presenting with symptoms suggestive of cerebellar ataxia. Learn more: https://lnkd.in/e8pGEDkN Curious to know what Variantyx testing detected? To find out, register for Dr. Christine Stanley’s December 3rd webinar: Unlocking Ataxia Diagnosis: The Advantage of Whole Genome Sequencing. Please be sure to register in advance: https://lnkd.in/e42SZy-Z

We’re excited to share an important update to our Genomic Unity® Epilepsy Analysis! We’ve expanded our Epilepsy test panel to include 388 genes, reinforcing our commitment to delivering the most up-to-date and comprehensive insights in genetic testing. This latest update includes the addition of the following genes, based on growing evidence in the literature linking them to epilepsy: AP2M1, CNTN2, CUX2, IRF2BPL, KCNH5, KCTD7, RANBP2, RHOBTB2, GRIN2D, PIGA, RORB, SLC4A10, SEMA6B, GLUL, CYFIP2, KLHL20, NUS1, and TK2. Want to order Genomic Unity® Epilepsy Analysis for your patient? Contact us to get started: https://lnkd.in/eKueegDA Learn more: https://lnkd.in/eRM_C8_X #Genomics #Epilepsy #GeneticTesting #PrecisionMedicine #GenomicUnity

Genome analysis isn’t just for pediatric and adult patients. With IriSight® Prenatal Analysis, we detect variants during pregnancy that are beyond the limitations of CMA, panel and exome, turning inconclusive results into answers. Recently, in a 20-week pregnancy with suspected skeletal dysplasia (following a prior pregnancy with suspected TAR syndrome) CMA identified a 1q21.1 deletion affecting RBM8A. But no second variant. Variantyx IriSight® prenatal genome testing detected the same deletion plus a 3’-UTR variant in RBM8A - delivering a definitive diagnosis and explaining both the current and prior pregnancies. Read the full case study: https://lnkd.in/ekuNU8QC Comprehensive insight is in your hands. Choose wisely. Choose IriSight®.

Recently, a pregnant mother presented with ultrasound findings suggestive of skeletal dysplasia. IriSight® prenatal testing readily identified the causative COL11A1 variant. It also identified something else: a maternally inherited, two-exon deletion in the TBC1D8B gene with implications for ongoing monitoring of the male child’s kidney function. Neither CMA nor exome sequencing would have been able to detect this small CNV. Only IriSight® has the technical specifications needed to provide both diagnoses. Read the case study to learn more: https://lnkd.in/eHAv8DUY Comprehensive insight is in your hands. Choose wisely. Choose IriSight®.

When presented with an ultrasound scan suggestive of skeletal dysplasia, which test would you choose for your patient? Fortunately for the patient profiled in this case study, her provider chose IriSight® prenatal testing. In one test, IriSight® identified two variants in the KIAA0753 gene: an SNV and a small multi-exon deletion – fully explaining the ultrasound findings. With both variants falling below the cut-off value for CMA and exome testing’s limitations for small CNV detection, only IriSight® has the technical specifications needed to provide a complete diagnosis. Read the full case study: https://lnkd.in/ercfzB-B Comprehensive insight is in your hands. Choose wisely. Choose IriSight®.