Background:
Disorders causing brain malformations are phenotypically heterogeneous; mutations in certain genes have been associated inherited conditions causing brain developmental issues. These conditions could present with dysmorphologic features including holoprosencephaly, microcephaly and macrocephaly. Other clinical phenotypes include dysmorphologies observed in MRIs, seizures, developmental delays and intellectual disability. These conditions could include lissencephalies, cerebellar hypoplasia, Joubert syndrome and Joubert-like disorders. Conditions causing brain malformations can be inherited in an autosomal dominant, recessive and X-linked pattern.
Reasons for Referral:
- Suspected genetic etiology of a brain malformation
- Carrier testing
- Positive family history
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated.
Coding region coverage for the Comprehensive Brain Malformations panel genes:
ACTB, ACTG1, AHI1, ARFGEF2, ARL13B, ARX, ASPM, ATR, ATRX, C5ORF42, CASK, CC2D2A, CDK5RAP2, CDKL5, CDON, CENPJ, CEP152, CEP290, CEP41, COL4A1, CUL4B, DCX, DHCR7, DISP1, DLL1, EMX2, EOMES, EXOSC3, EZH2, FGF8, FKRP,FKTN, FLNA, FOXG1, FOXH1, GAS1, GLI2, GLI3, GPR56, HESX1, IER3IP1, KIAA1279, KIF7, L1CAM, LAMC3, LARGE, MCPH1, MECP2, MED12, MKS1, MRPS16, MYCN, NFIX, NIPBL, NODAL, NPHP1, NSD1, OFD1, OPHN1, OTX2, PAFAH1B1, PCNT, PHF6, PIK3CA, POMGNT1, POMT1, POMT2, PQBP1, PTCH1, PTEN, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RBBP8, RELN, RPGRIP1L, SHH, SIX3, SLC25A19, SLC9A6, SOX2, SRPX2, STIL, TCF4, TCTN1, TCTN2, TGIF1, TMEM138, TMEM216, TMEM237, TMEM67, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB2B, TUBB3, UBE3A, UPF3B, VLDLR, VRK1, WDR62, ZEB2, ZIC2
Methodology:
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