P476: Identification and accurate sizing of D4Z4 repeat units in patients suspected of facioscapulohumeral muscular dystrophy (FSHD) using optical genome mapping von Guruju, Naga, Jump, Vanessa, Nallamilli, Babi, Liu, Ruby, Luo, Zhiwen, Hegde, Madhuri

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P638: Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene von Guruju, Naga, Jump, Vanessa, Liu, Ruby, Reddy Nallamilli, Babi Ramesh, Steigerwalt, Jill, Collins, Christin, Bean, Lora, Hegde, Madhuri

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Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping von Guruju, Naga M., Jump, Vanessa, Lemmers, Richard, Van Der Maarel, Silvere, Liu, Ruby, Nallamilli, Babi R., Shenoy, Suresh, Chaubey, Alka, Koppikar, Pratik, Rose, Rajiv, Khadilkar, Satish, Hegde, Madhuri

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P502: How does multiomics help variant reclassification? von Liu, Ruby, Guo, Fen, Reddy Nallamilli, Babi Ramesh, Collins, Christin, Bean, Lora, Guruju, Naga, Hegde, Madhuri

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P679: Ultrarapid whole genome sequencing facilitates early definitive diagnosis of rare genetic disorders von Nallamilli, Babi Ramesh Reddy, Lakshmanan, Jagannathan, Ramachander, Vinish, Dhillon, Supan, Liu, Ruby, Pan, Yinghong, Guruju, Naga, Collins, Christin, Bean, Lora, Hegde, Madhuri

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P714: Genome screening of newborns: Sequencing is easy, assessing the clinical utility of genomic findings uncovered in asymptomatic children is challenging von Balciuniene, Jorune, Liu, Ruby, Bean, Lora, Reddy Nallamilli, Babi Ramesh, Guruju, Naga, Chen-Deutsch, Xiangwen, Yousaf, Rizwan, Fura, Kristina, Chin, Eprem, Mathur, Abhinav, Ma, Zeqiang, Carmichael, Jonathan, Collins, Christin, da Silva, Cristina, Kirmse, Brian, Bleyl, Steven, Hegde, Madhuri

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P425: Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: Findings from the first real-world dataset von Balciuniene, Jorune, Liu, Ruby, Collins, Christin, Bean, Lora, Guo, Fen, Reddy Nallamilli, Babi Ramesh, Guruju, Naga, Chen-Deutsch, Xiangwen, Yousaf, Rizwan, Fura, Kristina, Chin, Ephrem, da Silva, Cristina, Mathur, Abhinav, Ma, Zeqiang, Hegde, Madhuri

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P389: Real-world evidence demonstrating why genome sequencing should be recommended as the first-tier genetic test von Guo, Fen, Liu, Ruby, Pan, Yinghong, Collins, Christin D., Bean, Lora, Reddy Nallamilli, Babi Ramesh, Guruju, Naga, Chen-Deutsch, Xiangwen, Yousaf, Rizwan, Chin, Ephrem, da Silva, Cristina, Mathur, Abhinav, Ma, Zeqiang, Balciuniene, Jorune, Hegde, Madhuri

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P426: Recognizing the promise and potential pitfalls of genomic medicine through routine rapid whole genome sequencing von Bean, Lora, Collins, Christin, Guo, Fen, Balciuniene, Jorune, Chen-Deutsch, Xiangwen, Reddy Nallamilli, Babi Ramesh, Guruju, Naga, Yousaf, Rizwan, Fura, Kristina, Woodman, Amber, Liu, Ruby, Zhang, Jenny, Liebmann, Kate, Gerow, Julia, Chin, Ephrem, Hegde, Madhuri

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eP356: Exome sequencing expands the sensitivity and specificity of identification of sequence variants and CNVs in phenotypic females with DSD von Guruju, Naga, Nallamilli, Babi Ramesh Reddy, Jump, Vanessa, Collins, Christin, Hegde, Madhuri

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eP380: Sequencing of entire 2.2 MB DMD gene facilitates diagnostic testing and aids selection of patients for therapeutic intervention von Nallamilli, Babi, Guruju, Naga, Jagannathan, Lakshmanan, Ramachander, Vinish, Bean, Lora, Hegde, Madhuri

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Testing for Facioscapulohumeral Muscular Dystrophy with Optical Genome Mapping von Koppikar, Pratik, Shenoy, Suresh, Guruju, Naga, Hegde, Madhuri

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Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test von Guo, Fen, Liu, Ruby, Pan, Yinghong, Collins, Christin, Bean, Lora, Ma, Zeqiang, Mathur, Abhinav, Da Silva, Cristina, Nallamilli, Babi, Guruju, Naga, Chen-Deutsch, Xiangwen, Yousaf, Rizwan, Chin, Ephrem, Balciuniene, Jorune, Hegde, Madhuri

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eP469: Improved Vanadis NIPT platform for detection of T13 T18 and T21 and sex chromosome abnormalities von Shenoy, Suresh, Donti, Taraka, Chin, Ephrem, Borandi, P.J., Nara, Ryan, Luo, Zhi Wen, Guruju, Naga, Prenski, Lawrence, Hegde, Madhuri

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eP371: A diverse set of case presentation highlight the power of genome sequencing – What next? von Liu, Ruby, Guo, Fen, Reddy Nallamilli, Babi Ramesh, Collins, Christin, Bean, Lora, Wang, Yang, Guruju, Naga, Hedge, Madhuri

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eP357: Molecular diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) using optical genome mapping von Guruju, Naga, Jump, Vanessa, Reddy Nallamilli, Babi Ramesh, Chin, Ephrem, Donti, Taraka, Shenoy, Suresh, Nara, Ryan, Luo, Zhiwen, Collins, Christin, Hegde, Madhuri

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Molecular Diagnosis of Duchenne Muscular Dystrophy Using Single NGS‐Based Assay von Nallamilli, Babi Ramesh Reddy, Guruju, Naga, Jump, Vanessa, Liu, Ruby, Hegde, Madhuri

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At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children von Balciuniene, Jorune, Liu, Ruby, Bean, Lora, Guo, Fen, Nallamilli, Babi Ramesh Reddy, Guruju, Naga, Chen-Deutsch, Xiangwen, Yousaf, Rizwan, Fura, Kristina, Chin, Ephrem, Mathur, Abhinav, Ma, Zeqiang, Carmichael, Jonathan, da Silva, Cristina, Collins, Christin, Hegde, Madhuri

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Parental age and the origin of extra chromosome 21 in Down syndrome von Jyothy, A, Kumar, K S, Mallikarjuna, G N, Babu Rao, V, Uma Devi, B, Sujatha, M, Reddy, P P

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