Card kit

Invitae Overgrowth and Macrocephaly Syndromes Panel

Test code: 04501

Test description

The Invitae Overgrowth and Macrocephaly Syndromes Panel analyzes up to 26 genes that are associated with overgrowth and macrocephaly syndromes, which are characterized by extreme overgrowth (> 2 standard deviations) in weight and/or length. The growth may be symmetric, or localized to specific areas of the body, such as in macrocephaly or hemihypertrophy, respectively. Many of these syndromes are associated with increased risk of cancer. These genes were selected based on the available evidence to date to provide Invitae’s broadest test for overgrowth and macrocephaly syndromes.

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

Disorders tested

Ordering information

Turnaround time:

10–21 calendar days (14 days on average)

New York approved:

Yes

Preferred specimen:

3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)

Alternate specimens:

Saliva, buccal swab, and gDNA are also accepted.
Learn more about specimen requirementsRequest a specimen collection kit

Clinical description and sensitivity

Clinical description:

The Invitae Overgrowth and Macrocephaly Syndromes panel is intended to aid in the identification of a possible genetic cause for patients who present with a set of symptoms that include abnormal excessive height and/or weight and/or macrocephaly (>2 standard deviations). Onset may be prenatal or postnatal. Overgrowth may manifest in a symmetric or asymmetric pattern, and may include additional features such as developmental delay, intellectual disability, seizures, behavioral abnormalities, and dysmorphic features. Increased risk of cancer is commonly associated with many of these syndromes.

Clinical description and sensitivity

Assay 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 and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

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.

Assay information

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You can customize this test by clicking genes to remove them.

Primary panel

21 genes selected
AKT2
AKT3
CDKN1C
CUL4B
DIS3L2
DNMT3A
EZH2
GLI3
GPC3
KPTN
MED12
MTOR
NF1
NFIX
Show all genes
Select add-on genes
5 genes

In addition to the primary panel, clinicians can also choose to include four genes that have preliminary evidence of association with overgrowth and macrocephaly. At this time, the association of these four genes with overgrowth and macrocephaly remains preliminary. However, some clinicians may wish to include genes that may prove to be clinically significant in the future. Visit our "(external) Preliminary-evidence genes":/preliminary-evidence/ page to learn more. These genes can be added at no additional charge.

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