Invitae Campomelic Dysplasia Test


Test description

The Invitae Campomelic Dysplasia Test analyzes the SOX9 gene. This gene provides instructions on making a protein that regulates the development of the skeletal system and reproductive organs. Pathogenic variants in SOX9 are associated with campomelic dysplasia (CD) and can result in abnormal development of the skeletal and reproductive systems as well as other parts of the body.

A genetic diagnosis of campomelic dysplasia can guide medical management and help predict disease progression and outcome for the patient. It can also facilitate a swift uptake of treatment in the neonatal period.

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Primary panel (1 gene)


Campomelic dysplasia (CD)

Campomelic dysplasia (CD) is a disorder that affects skeletal development, resulting in multiple skeletal abnormalities. These abnormalities include the shortening and bowing of the long bones in the limbs, progressive scoliosis, cervical spine compression, clubfeet, and a distinctive set of facial features known as Pierre-Robin sequence. Affected individuals may also present with symptoms affecting other body systems, including congenital laryngotracheomalacia and ambiguous genitalia. CD has a variable clinical presentation; not all affected individuals will present with all of these symptoms. Individuals with CD do not often live beyond the newborn period.

Approximately 95% of patients with campomelic dysplasia have a pathogenic variant in the SOX9 gene.

Campomelic dysplasia is inherited in an autosomal dominant pattern but is most commonly the result of a spontaneous de novo pathogenic variant.

Campomelic dysplasia is considered fully penetrant, but the presentation of symptoms is variable. The age of onset is early in development. Approximately 75% of individuals with campomelic dysplasia have ambiguous genitalia. Skeletal abnormalities can often be seen on ultrasound.

The estimated incidence is between 1 in 40,000 and 1 in 80,000 individuals.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
SOX9 NM_000346.3