DYS; ELP1; FD; IKAP; IKI3; TOT1
The IKBKAP gene is associated with autosomal recessive familial dysautonomia, also known as hereditary sensory and autonomic neuropathy type 3 (HSAN3) (MedGen UID: 41678).
Order this gene as a single gene test.
Invitae tests that include this gene:
Pathogenic variants in IKBKAP are the only known cause of familial dysautonomia. In Ashkenazi Jews, two specific pathogenic variants, detectable by sequence analysis, account for greater than 99% of cases.
The IKBKAP gene encodes the inhibitor of kappa light polypeptide gene enhancer in B-cells protein, also known as IKAP. This protein is a member of the elongator complex, which plays a role in transcriptional elongation as well as neuronal development.
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|