• 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



Hs.22998; PTHSL2; SCZD17

Associated disorders

The NRXN1 gene is associated with autosomal recessive idiopathic generalized epilepsy (PMID: 23294455, 25950944).

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Invitae tests that include this gene:

Pathogenic variants in NRXN1 gene are a rare cause of Idiopathic generalized epilepsy and Pitt-Hopkins-like syndrome.

The NRXN1 gene encodes a neuronal cell-surface protein that mediates extracellular protein-protein interactions to facilitate neuronal communication and control neuron development and maturation (PMID: 17275284).

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
NRXN1 NM_001135659.1; NM_138735.2