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Malformations

Genetic diagnostics is the most efficient way to subtype malformations, providing the necessary information to make confident individualized treatment and management decisions. Moreover, identifying the causative mutation establishes the mode of inheritance within the family, which is essential for well-informed genetic counseling.

 

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Genetic diagnostics for hereditary malformations

We offer comprehensive genetic diagnostics for malformations. Our panels cover a broad spectrum of connective tissue and skeletal disorders. These syndromes can manifest as isolated defects, growth abnormalities, as well as malformations that are present in the entire body. Some of our panels target organ-specific disorders such as Hirschsprung disease and gastrointestinal atresias, cerebral cavernous malformations, and neurofibromatosis.

Inherited skeletal diseases are difficult to subtype and classify into categories. The design and gene selection of our skeletal disease panels follows Bonafe et al. (Nosology and Classification of Genetic Skeletal Disorders: 2015 Revision; PMID: 26394607).

In addition to many disorder-specific panels, larger disease groups are also targeted. Specifically, our Macrocephaly/ Overgrowth Syndrome Panel and Microcephaly and Pontocerebellar Hypoplasia Panel are suitable for patients with abnormalities in skull structure and symptoms that substantially overlap with neurological diseases. Similarly, our Neuronal Migration Disorder Panel covers a broader set of genes related to holoprosencephaly, lissencephaly, and polymicrogyria. Additionally, our Comprehensive Skeletal/ Malformation Syndrome Panel covers all genes included
in the unique panels, providing maximal differential diagnostic power in the field.

Our diagnostic process

From sample to clinical interpretation

  1. Ordering and sample preparation

    After receiving a patient’s medical history and sample we start the sample preparations in our CLIA certified laboratory.

  2. Sequencing

    We sequence the DNA in our lab with our proprietary targeted sequencing method OS-Seq™, developed at Stanford.

  3. Data analysis and interpretation

    We use our own proprietary automated bioinformatics pipeline to produce clinically relevant information - fast and reliably.

  4. Clinical statement

    Our team of geneticists and clinicians produce a comprehensive clinical statement to support the diagnosis of your patient.

  1. Sample
    order process image
  2. Sequencing
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  3. Analysis
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  4. Report
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