Search our Test Catalogue
For assistance with ordering one of our tests call 1-800-1200-695.
Disease Name: Bannayan-Riley-Ruvalcaba syndrome
Genes Covered:ABCC9, ADK, AKT3, AMER1, ANKH, ARSB, ASPA, B4GALT1, B4GALT7, BANF1, BRWD3, CUL4B, D2HGDH, DAG1, DHCR24, ETFA, ETFB, ETFDH, EXT2, EZH2, FGFR3, FH, FKBP10, GALNS, GCDH, GFAP, GJA1, GLB1, GLI3, GNS, GPC3, GPC4, GRIA3, GUSB, HEPACAM, HEXB, HGSNAT, HRAS, HSD17B4, IDH2, IDS, IDUA, IGBP1, IGF2, INPP5E, ISPD, ITCH, KDM5C, KIF7, L1CAM, L2HGDH, LAMB1, LBR, LMNA, LRP2, MAN2B1, MECP2, MED12, MGAT2, MITF, MLC1, MOCS1, MOCS2, MPDZ, NAGLU, NF1, NFIA, NSD1, OFD1, OPHN1, PDSS1, PEX1, PIK3CA, PIK3R2, PLG, PTCH1, PTCH2, PTEN, RAB39B, RIN2, RNF135, ROR2, SDHB, SETD2, SGSH, SHOC2, SNX10, SOS1, SOST, SOX9, STRADA, SUFU, TCIRG1, THRA, TMCO1, TMEM216, UPF3B, WNT5A, XYLT1
Panel: Strand Neurodevelopmental Disorders Test
Disorder Category: Macrocephaly
Turnaround Time: 5-6 weeks from receipt of sample in the lab