Disease

Fanconi anemia, complementation group P1, 2

Gene

SLX4

Inheritance AR
Current Treatments Hematopoietic stem cell transplantation (HSCT) - bone marrow transplant
Evidence for Treatment guideline3
Non-Molecular Testing Availability yes
Non-Molecular Test MMC- and/or DEB-induced chromosome breakage analysis4
Disease Frequency (per 100,000) 0.765
Genes Included in Disease Frequency BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, ERCC4, FANCL, MAD2L2, RFWD3, SLX4, UBE2T
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Fanconi+Anemia&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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