FA-D2; FA4; FACD; FAD; FAD2; FANCD
The FANCD2 gene is associated with autosomal recessive Fanconi anemia, type D2 (MedGen UID: 463627).
Order this gene as a single gene test.
FANCD2: Deletion/duplication analysis is not offered for exons 14-17 and 22.
Invitae tests that include this gene:
The percentage of Fanconi anemia attributed to pathogenic variants identified in FANCD2 is roughly 3%.
The FANCD2 gene encodes the fanconi anemia group D2 protein. This protein is involved in homology-directed DNA repair.
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|
*FANCD2: Deletion/duplication analysis is not offered for exons 14-17 and 22.