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  • 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
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LIG4

Alias

4; ATP; DNA joinase; DNA ligase 4; DNA ligase IV; DNA repair enzyme; LIG4S; Polydeoxyribonucleotide; Polynucleotide ligase; Sealase; synthase

Associated disorders

The LIG4 gene is associated with autosomal recessive LIG4 syndrome (MedGen UID: 339855).

Pathogenic variants in LIG4, the only known cause of LIG4 syndrome, are a rare cause of radiosensitive severe combined immunodeficiency (RS-SCID). At this time, the percentage of SCID or RS-SCID that can be attributed to pathogenic variants in LIG4 is unknown.

The LIG4 gene encodes a DNA ligase which is important for the repair of DNA double-strand breaks during non-homologous end-joining. This process is also important for V(D)J recombination during the maturation of lymphocytes.

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
LIG4 NM_002312.3