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Disease Name: Cerebrooculofacioskeletal syndrome

Genes Covered:

ABCD4, ACTB, ADAR, AIMP1, AKT3, ALG12, ALG3, AP3B1, AP4E1, AP4M1, ARFGEF2, ARG1, ARID1A, ARID1B, ASNS, ASPM, ATP1A3, ATP6V0A2, ATR, ATRX, AUTS2, BCAP31, BCL11A, BCOR, BRAT1, BUB1B, CASK, CDC6, CDK5RAP2, CDKL5, CDT1, CENPJ, CEP135, CEP152, CEP63, COG7, CTNNB1, CTSD, CYB5R3, DEAF1, DHCR24, DHCR7, DIAPH1, DLD, DNM1L, DOCK6, DPM1, DPP6, DPYD, DYNC1H1, DYRK1A, EFTUD2, EMG1, EP300, ERCC1, ERCC2, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, EXOSC3, FKTN, FREM1, GLI2, GLYCTK, GNPAT, IER3IP1, IFIH1, IGF1R, IQSEC2, KARS, KAT6B, KDM5C, KIAA1279, KIF11, KMT2D, KNL1, LIG4, LINS1, LMBRD1, MBTPS2, MCM4, MCPH1, MECP2, MED17, MFSD2A, MID1, MMACHC, MMADHC, MOCS2, MRE11, MRPS22, MSMO1, MTHFR, MTR, MTRR, NBN, NDE1, NHEJ1, NIPBL, NR2E1, NSDHL, NSUN2, OCLN, ORC1, ORC4, ORC6, PAFAH1B1, PAH, PAK3, PAX6, PCDH15, PCNT, PDHA1, PDX1, PHF6, PHGDH, PIEZO2, PNKP, PNPO, POMGNT1, POMT1, POMT2, PQBP1, PTCH1, PTPRT, PUS1, RAB18, RAB3GAP1, RAB3GAP2, RAD21, RARS2, RBBP8, RNASEH2A, RNASEH2B, RNASEH2C, RNU4ATAC, RPL10, RPS6KA3, SAMHD1, SEPSECS, SHH, SIX3, SLC16A2, SLC25A19, SLC2A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SNX3, SPR, STIL, SYNGAP1, TAF2, TCF4, TMEM165, TRAPPC9, TREX1, TSEN54, TUBA1A, TUBB2B, TUBB3, TUBGCP4, TUBGCP6, UBE3A, VPS13B, VRK1, WDR62, WHSC1, WWOX, XPA, XRCC4, ZBTB16, ZEB2, ZNF335
Test Details Pricing

Panel: Strand Neurodevelopmental Disorders Test

Disorder Category: Microcephaly

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