Table 1.

Molecular Genetic Testing Used in Fanconi Anemia

Gene 1, 2Comple-mentation Group 3% of FA Attributed to Pathogenic Variants in Gene 4Proportion of Pathogenic Variants 5 Detected by Method
Sequence analysis 6Gene-targeted deletion/duplication analysis 7
BRCA1 FA-S<1%>99%None reported
BRCA2 FA-D12%>99%None reported
BRIP1 FA-J2%>99%None reported
ERCC4 FA-Q<1%>99%None reported
FAAP100 FA-Y1 individual 8>99%None reported
FANCA FA-A60%-70%~60%~40%
FANCB FA-B2%~70%~30%
FANCC FA-C14%>90%<10%
FANCD2 FA-D23%<90%>10%
FANCE FA-E3%>99%None reported
FANCF FA-F2%~85%~15%
FANCG (XRCC9)FA-G10%>99%None reported
FANCI FA-I1%>95%<5%
FANCL FA-L<1%>90%<10%
FANCM FA-M<1%~75%1 reported
PALB2 FA-N<1%>95%1 reported
RAD51 FA-R2 reported>99%None reported
RAD51C FA-O<1%>99%None reported
REV7 (MAD2L2) FA-V1 reported>99%None reported
RFWD3 FA-W1 reported>99%None reported
SLX4 FA-P<1%>90%1 reported
UBE2T FA-T<1%<50%>50%
XRCC2 FA-U1 reported>99%None reported

NA = not applicable


Genes are listed in alphabetic order.


Prior to identification of the genes, complementation groups were defined based on somatic cell-based methods. While complementation analysis testing has been supplanted by multigene panels; this terminology continues to be used in some contexts.


Data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]


See Molecular Genetics for information on pathogenic variants detected in these genes.


Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.


Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.


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From: Fanconi Anemia

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