C14orf151; C14orf173; CMTDIE; FSGS5; pp9484
The INF2 gene is associated with autosomal dominant focal segmental glomerulosclerosis (FSGS) (MedGen UID 413315) and dominant intermediate Charcot-Marie-Tooth disease type E (CMT-DIE) (MedGen UID 482475).
Order this gene as a single gene test.
INF2: Sequencing analysis is not offered for exon 8.
Invitae tests that include this gene:
The INF2 gene encodes inverted formin, FH2 and WH2 domain containing (also known as WHIF1). This protein helps modulate polymerization and depolymerization of actin. It is highly expressed in Schwann cells of the peripheral nerves and in podocytes in the kidney.
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|
*INF2: Sequencing analysis is not offered for exon 8.