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Disease Name: Rothmund-Thomson syndrome
Genes Covered:BLM, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, GTF2H5, MPLKIP, POLH, RECQL4, RNF113A, UVSSA, WRN, XPA, XPC
Panel: Strand Dermatological Disorders Test
Disorder Category: DNA repair disorders with cutaneous features
Turnaround Time: 5-6 weeks from receipt of sample in the lab