• 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




Associated disorders

The SYNGAP1 gene is associated with autosomal dominant intellectual disability (MedGen UID: 382611) and early infantile epileptic encephalopathy (EIEE) (PMID: 26989088, 23708187).

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Invitae tests that include this gene:

Pathogenic variants in the SYNGAP1 gene are associated with ~1% of clinical cases of early infantile epileptic encephalopathy (EIEE) (PMID: 23708187).

Enzymes that utilize GTP as an energy source often require GTPase activating proteins (GAPs) to catalyze the conversion from GTP to GDP and guanine nucleotide exchange factors (GEFs) to promote turnover of the used GDP molecule and allow new GTP binding. The SYNGAP1 gene encodes a GAP that interacts with the NMDA receptor, a ligand-gated ion channel that allows calcium into the cell after binding to the excitatory neurotransmitter, glutamate (PMID: 22700469).

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.

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
SYNGAP1 NM_006772.2