{
  "abstract": "Targeted precision therapies are increasingly used in the treatment of individuals with vascular anomalies (VAs). This increases the need for rapid, accurate and inexpensive genetic diagnosis. Droplet digital polymerase chain reaction (ddPCR) is an alternative to next-generation sequencing (NGS), permitting rapid, highly sensitive interrogation of recurrent pathogenic mosaic variants. We examined the feasibility of ddPCR as a primary diagnostic tool in a large cohort of individuals with VAs. Lesional tissue was collected for ddPCR of up to 46 recurrent pathogenic variants across 16 genes associated with VAs. Specimens were assessed on a subset of assays for each individual based on clinical phenotype. Most individuals who had negative ddPCR results went on to high-depth gene panel or deep exome NGS, or Sanger sequencing. Here we report the phenotypic and molecular findings for 78 newly recruited and tested individuals in addition to the 60 individuals already reported from our cohort. The overall diagnostic yield for our cohort when combined with individuals previously reported was 104/138 (75%). Of 138 individuals tested, recurrent pathogenic variants were detected in 71 (51%) on ddPCR. Variants were most frequently identified in PIK3CA (n = 28), TEK (n = 18), GNAQ (n = 12), or MAP2K1 (n = 7). In a further 33 individuals, pathogenic variants were identified on NGS or Sanger sequencing. Our findings indicate that ddPCR is an efficient method achieving a high diagnostic yield in our cohort when used prior to sequencing.",
  "abstract_shown": true,
  "affiliations": [
    "Epilepsy Research Centre, Department of Medicine (Austin Hospital), University of Melbourne, 245 Burgundy Street, Heidelberg, VIC 3084, Australia.",
    "Victorian Clinical Genetics Services, 50 Flemington Rd, Parkville, VIC 3052, Australia.",
    "Murdoch Children's Research Institute, 50 Flemington Rd, Parkville, VIC 3052, Australia.",
    "Royal Children's Hospital Department of Paediatrics, University of Melbourne, 50 Flemington Rd, Parkville, VIC 3052, Australia.",
    "Tasmanian Clinical Genetics Service, 48 Liverpool St, Hobart, TAS 7000, Australia.",
    "The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, VIC 3050, Australia.",
    "Department of Medical Biology, University of Melbourne, Grattan Street, Parkville, VIC 3010, AustraliaGrattan Street, Parkville, VIC 3010, Australia.",
    "Department of Plastic and Maxillofacial Surgery, Royal Children's Hospital, 50 Flemington Rd, Parkville, VIC 3052, Australia.",
    "Department of General Medicine, Royal Children's Hospital, 50 Flemington Rd, Parkville, VIC 3052, Australia.",
    "Department of Paediatrics, Monash University, Wellington Rd, Clayton, VIC 3800, Australia.",
    "Anatomical Pathology, St Vincent's Hospital, 41 Victoria Parade, Fitzroy, VIC 3065, Australia.",
    "Anatomical Pathology, Royal Children's Hospital, 50 Flemington Rd, Parkville, VIC 3052, Australia.",
    "Department of Dermatology, Royal Children's Hospital, 50 Flemington Rd, Parkville VIC 3052, Australia.",
    "Facial Sciences Research Group, Murdoch Children's Research Institute, 50 Flemington Rd, Parkville, VIC 3052, Australia."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 23,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Tara K Lane"
    },
    {
      "affs": [
        1,
        2,
        3
      ],
      "name": "Natasha J Brown"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Timothy E Green",
      "orcid": "0000-0002-6748-9651"
    },
    {
      "affs": [
        1,
        2,
        4
      ],
      "name": "Denisse Garza"
    },
    {
      "affs": [
        1,
        2
      ],
      "name": "Michelle G de Silva"
    },
    {
      "affs": [
        0,
        5,
        6
      ],
      "name": "Mark F Bennett"
    },
    {
      "affs": [
        0,
        1,
        2,
        3,
        7
      ],
      "name": "Caitlin Tubb"
    },
    {
      "affs": [
        0
      ],
      "name": "Sian M W Macdonald"
    },
    {
      "affs": [
        7
      ],
      "name": "Adam Gascoigne"
    },
    {
      "affs": [
        8,
        9
      ],
      "name": "Roderic J Phillips"
    },
    {
      "affs": [
        10
      ],
      "name": "John Slavin"
    },
    {
      "affs": [
        11
      ],
      "name": "Colleen D'Arcy"
    },
    {
      "affs": [
        11
      ],
      "name": "Duncan MacGregor"
    },
    {
      "affs": [
        12
      ],
      "name": "Amelia Clifford"
    },
    {
      "affs": [
        12
      ],
      "name": "Lydia Pathmanathan"
    },
    {
      "affs": [
        2,
        12
      ],
      "name": "Susan J Robertson"
    },
    {
      "affs": [
        3,
        12
      ],
      "name": "Phillip Bekhor"
    },
    {
      "affs": [
        7
      ],
      "name": "Jodie Simpson"
    },
    {
      "affs": [
        0
      ],
      "name": "Samuel Gooley"
    },
    {
      "affs": [
        0,
        2,
        3
      ],
      "name": "Ingrid E Scheffer"
    },
    {
      "affs": [
        0
      ],
      "name": "Samuel F Berkovic"
    },
    {
      "affs": [
        2,
        7,
        13
      ],
      "name": "Anthony J Penington"
    },
    {
      "affs": [
        0,
        2
      ],
      "name": "Michael S Hildebrand",
      "orcid": "0000-0003-2739-0515"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/2yz8w2etkk2a4.bib",
  "cited_by": 0,
  "doi": "10.1093/hmg/ddag109",
  "fulltext_url": "https://europepmc.org/articles/PMC13682581",
  "id": "2yz8w2etkk2a4",
  "issns": [
    "0964-6906",
    "1460-2083"
  ],
  "landing_url": "https://europepmc.org/article/MED/42900767",
  "language": "eng",
  "licence": "CC-BY-NC",
  "licence_label": "CC BY-NC",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2746|Vascular Malformations and Hemangiomas"
    ]
  ],
  "openalex": "W7223049490",
  "pdf_url": "https://europepmc.org/articles/PMC13682581?pdf=render",
  "pmcid": "PMC13682581",
  "pmid": "42900767",
  "published": "2026-10-01",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/2yz8w2etkk2a4.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:19:37Z",
      "native_id": "MED:42900767",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42900767"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2746|Vascular Malformations and Hemangiomas",
      "subfield": "surgery"
    }
  ],
  "title": "Droplet digital PCR as a first-line detection tool in the genetic diagnosis of vascular anomalies.",
  "title_text": "Droplet digital PCR as a first-line detection tool in the genetic diagnosis of vascular anomalies.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:19:37Z",
  "url": "https://research.draconitic.com/paper/2yz8w2etkk2a4",
  "venue": "Human molecular genetics",
  "versions": []
}