Variantyx https://validator.w3.org/feed/docs/rss2.html Raw Data Access News Center Rapid Genome Case Study: COL4A5 Inversion Provides Alport Syndrome Diagnosis Case Study: FBN1 Intronic Variant Provides Marfan Syndrome Diagnosis Case Study: De Novo Unmethylated MAGEL2 Indel Provides Schaaf-Young Syndrome Diagnosis Case Study: CHR15 Aberrant Methylation Provides Prader-Willi Syndrome Diagnosis Case Study: GRIA2 Partial Exon Deletion Provides Neurodevelopmental Disorder Diagnosis Case Study: De Novo UBE3A Indel Phasing Provides Angelman Syndrome Diagnosis Case Study: BEAN1 Expansion Provides Spinocerebellar Ataxia 31 Diagnosis Case Study: GYG1 Phasing Provides Polyglucosan Body Myopathy Diagnosis Home Case Study: KDM5B Phasing Provides Intellectual Developmental Disorder Diagnosis Case Study: RFC1 Expansions Provide CANVAS Diagnosis Case Study: FXN Expansions Provide Friedreich Ataxia Diagnosis Case Study: SYNGAP1 Variant Provides SYNGAP1-Related Disorders Diagnosis Case Study: COLQ Deletion Plus CFTR SNVs Provide Congenital Myasthenic Syndrome 5 and Cystic Fibrosis Diagnoses Case Study: UBE3B Deletion Provides Kaufman Oculocerebrofacial Syndrome Diagnosis Case Study: C9orf72 Expansion Provides FTD/ALS Diagnosis Case Study: TRIO Deletion Provides Intellectual Developmental Disorder Diagnosis Case Study: CDKL5 Deletion Provides Developmental and Epileptic Encephalopathy 2 Diagnosis Case Study: VPS13A MEI And SNV Provide Chorea-acanthocytosis Diagnosis Case Study: SBDS Splice Variants Provide Shwachman-Diamond Syndrome Diagnosis Case Study: Overlapping COL18A1 Indels Provide Knobloch Syndrome Diagnosis Case Study: SATB2 Inversion Provides Glass Syndrome Diagnosis Case Study: FXN Variants Provide Friedreich Ataxia Diagnosis Case Study: Mitochondrial Deletion Provides Mitochondrial DNA Deletion Syndrome Diagnosis Case Study: TH Variants Provide Segawa Syndrome Diagnosis Case Study: HYLS1 SNV Provides Joubert Syndrome Diagnosis Case Study: FGF14 Expansions Provide Spinocerebellar Ataxia 27B Diagnosis Case Study: PEX1 Deletion Provides Zellweger Spectrum Disorder Diagnosis Case Study: MECP2 Deletion Provides Rett Syndrome Diagnosis Case Study: RNU7-1 Variants Provide Aicardi-Goutieres Syndrome 9 Diagnosis Case Study: KLHL40 3’UTR Variant Provides Nemaline Myopathy 8 Diagnosis Case Study: TLK2 Deletion Provides Intellectual Developmental Disorder 57 Diagnosis Case Study: DMD Deep Intronic Variant Provides Duchenne Muscular Dystrophy Diagnosis Case Study: RPL35A Deletion Provides Diamond-Blackfan Anemia Diagnosis Case Study: DIP2B Expansion Provides FRA12A Intellectual Disability Diagnosis Case Study: DMD Inversion Provides Duchenne Muscular Dystrophy Diagnosis Case Study: Chr15 UPD Provides Prader-Willi Syndrome Diagnosis TCF4 Repeat Expansion Testing TBP Repeat Expansion Testing RILPL1 Repeat Expansion Testing RFC1 Repeat Expansion Testing PRNP Repeat Expansion Testing PPP2R2B Repeat Expansion Testing PABPN1 Repeat Expansion Testing NOP56 Repeat Expansion Testing LRP12 Repeat Expansion Testing JPH3 Repeat Expansion Testing