Variantyx https://validator.w3.org/feed/docs/rss2.html Case Study: FBN1 Intronic Variant Provides Marfan Syndrome Diagnosis News Center Home Case Study: GCH1 Deletion Provides Dopa-Responsive Dystonia Diagnosis Case Study: PTPN1 SNV and 10q11.22 Deletion Provide Dual Diagnosis Forms Repeat Expansions Analyzed Case Study: COL4A5 Inversion Provides Alport Syndrome Diagnosis Genomic Unity® Movement Disorders Analysis RFC1 Repeat Expansion Testing Genomic Unity® Comprehensive Ataxia Analysis Genomic Unity® Ataxia Repeat Expansion Analysis Case Study: SNRPB Intronic Variant Provides Cerebrocostomandibular Syndrome Diagnosis Ataxia Genetic Testing with Genomic Unity® Case Study: FGF14 Expansions Provide Spinocerebellar Ataxia 27B Diagnosis Genomic Unity® Lightning 2.0 Genome Analysis – Standard FGF14 Repeat Expansion Testing Genomic Unity® Lightning 2.0 Genome Analysis – NICU Case Study: ENG Splicing Variant Provides Hereditary Hemorrhagic Telangiectasia Type 1 Diagnosis Understanding Variantyx Reports Case Study: SDHB Deletion Provides Hereditary Paraganglioma Syndrome 4 Diagnosis Case Study: TP53 Intronic Deletion Provides Li-Fraumeni Syndrome Diagnosis Case Study: GRIA2 Partial Exon Deletion Provides Neurodevelopmental Disorder Diagnosis Case Studies FXN Repeat Expansion Testing Genomic Unity® Cardiomyopathy and Arrhythmia Analysis Case Study: MED12 SNV Provides X-linked MED12-related Disorders Diagnosis Case Study: PHOX2B Expansion Provides Congenital Central Hypoventilation Syndrome Diagnosis Genomic Unity® Exome Analysis Genomic Unity® Exome Plus Analysis Case Study: MT-ATP6 Mitochondrial SNV Provides Primary Mitochondrial Disease Diagnosis We See More in Epilepsy Case Study: BEAN1 Expansion Provides Spinocerebellar Ataxia 31 Diagnosis Genomic Unity® Lightning Genome Analysis Rapid Genome Long-Read Whole Genome Sequencing Genomic Unity® 2.0 DAB1 Repeat Expansion Testing Licenses Patient Assistance Program – Rare Disease Patient Assistance Program – Reproductive We See More in Ataxia Genomic Unity® Whole Genome Analysis TBP Repeat Expansion Testing SAMD12 Repeat Expansion Testing RILPL1 Repeat Expansion Testing PPP2R2B Repeat Expansion Testing PABPN1 Repeat Expansion Testing NOTCH2NLC Repeat Expansion Testing NOP56 Repeat Expansion Testing