Invitae Carpenter Syndrome Panel


Test description

The Invitae Carpenter Syndrome Panel analyzes two genes that are associated with Carpenter syndrome, a multiple-congenital-malformation disorder. These genes were selected based on the available evidence to date.

Genetic testing of these genes may confirm a diagnosis and help guide treatment and medical management. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling.

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Primary panel (2 genes)


Alternative tests to consider

The Invitae Craniosynostosis Panel has been designed to provide a broad genetic analysis of craniosynostosis. It may be considered as an alternative to testing for Carpenter syndrome. Depending on the individual’s clinical and family history, this broader panel may be appropriate. It can be ordered at no additional cost.

Carpenter syndrome is a multiple-congenital-malformation disorder that is characterized by craniosynostosis, brachydactyly, polysyndactyly, obesity, intellectual disability, and congenital heart disease. MEGF8-associated Carpenter syndrome may also present with laterality defects.

Pathogenic variants in MEGF8 and RAB23 are expected to account for the majority of Carpenter syndrome cases, but the clinical sensitivity of these genes is not well-established.

Carpenter syndrome is inherited in an autosomal recessive manner.

Penetrance of Carpenter syndrome is expected to be high but is not well-documented at this time.

The prevalence of Carpenter syndrome is unknown, but the condition is considered to be rare. To date, fewer than 100 cases have been reported in the literature.

This panel may be appropriate for confirmation of a clinical diagnosis or to establish a diagnosis in an individual with suspected Carpenter syndrome.

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
MEGF8 NM_001410.2
RAB23 NM_183227.2