• Test code: 04725
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit

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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
MEGF8 NM_001410.2
RAB23 NM_183227.2