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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
Test Details Pricing

Panel: Strand Neurodevelopmental Disorders Test

Disorder Category: Macrocephaly

Turnaround Time: 5-6 weeks from receipt of sample in the lab

Sample Requirement:

  • 1. Blood in EDTA (purple top) tube shipped with ice pack (2-5 ml)
  • 2. Saliva or sputum in collection kit provided by Strand
  • 3. Cheek swab in the collection kit provided by Strand
  • 4. Purified genomic DNA (5-10 μg) in 10 mM Tris buffer (No EDTA)
  • 5. Dry blood spot

On request