Disorders of Somatic Mosaicism Sequencing
Overview
The Clinical Genomics Laboratory at WashU Medicine is a leader in the genetic diagnosis of disorders caused by somatic mosaicism. These conditions, which result from mosaic genetic changes, pose significant diagnostic challenges that the lab addresses using targeted gene panels with high-depth sequencing and expert interpretation. Panels are tailored to common clinical indications, including mosaic vascular malformations, overgrowth syndromes, cortical malformations with epilepsy, and inborn errors of immunity. Custom panels can also be configured to meet specific diagnostic needs.
Available Tests and Gene Lists
39 genes sequenced: ACTB, AKT1, AKT3, ARFGEF2, BRAF, CCM2, CCND2, CDKL5, DCX, DEPDC5, DYNC1H1, FLNA, GABRA1, GABRG2, GRIN2B, KCNQ2, KIF5C, MECP2, MTOR, NACC1, NPRL2, NPRL3, PAFAH1B1, PCDH19, PIK3CA, PIK3R2, PRKACA, PRKACB, PTEN, RHEB, RPS6, SCN1A, SCN2A, SLC35A2, SMO, TSC1, TSC2, TUBA1A and TUBB2B.
9 genes sequenced: FAS, JAK1, KRAS, NRAS, PIK3CD, PIK3R1, STAT5B, TLR8 and UBA1.
2 genes sequenced: IDH1 and IDH2.
5 genes sequenced: GNAS, HRAS, KRAS, NF1 and NRAS
39 genes sequenced: ACTB, AKT1, AKT3, ARFGEF2, BRAF, CCM2, CCND2, CDKL5, DCX, DEPDC5, DYNC1H1, FLNA, GABRA1, GABRG2, GRIN2B, KCNQ2, KIF5C, MECP2, MTOR, NACC1, NPRL2, NPRL3, PAFAH1B1, PCDH19, PIK3CA, PIK3R2, PRKACA, PRKACB, PTEN, RHEB, RPS6, SCN1A, SCN2A, SLC35A2, SMO, TSC1, TSC2, TUBA1A and TUBB2B.
FOCUSED PANEL
1 gene sequenced PIK3CA.
COMPREHENSIVE PANEL
75 genes sequenced: ACTB, ACVRL1, AKT1, AKT2, AKT3, ARAF, BRAF, CCBE1, CCM2, CCND2, CDKN1C, CELSR1, CLDN14, CTNNB1, DCHS1, ELMO2, ENG, EPHB4, FAT4, FGFR1, FGFR2, FLT4, FOXC2, GATA2, GDF2, GJA4, GJC2, GLMN, GNA11, GNA14, GNAQ, GNAS, HGF, HRAS, IDH1, IDH2, KDR, KEL, KIF11, KRAS, KRIT1, LZTR1, MAP2K1, MAP2K2, MAP3K3, MET, MTOR, NF1, NF2, NRAS, PDCD10, PDGFRB, PIEZO1, PIK3CA, PIK3CD, PIK3R1, PIK3R2, PRKACA, PTEN, PTPN11, PTPN14, RASA1, RHOA, SHOC2, SMAD3, SMAD4, SMO, SOS1, SOX18, SPRED1, STAMBP, TEK, TSC1, TSC2 and VEGFC.
26 genes sequenced: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K3, MAP3K8, MRAS, NF1, NF2, NRAS, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS2, SHOC2, SMAD4, SOS1, SOS2, SPRED1 and STAMBP.
49 genes sequenced: ACTB, AKT1, AKT2, AKT3, ARAF, BRAF, CCM2, CCND2, CDKN1C, DCHS1, EPHB4, FAT4, FGFR1, FGFR2, FLT4, GATA2, GJC2, GNA11, GNA14, GNAQ, HGF, HRAS, IDH1, IDH2, KIF11, KRAS, KRIT1, LZTR1, MAP2K1, MAP3K3, MET, MTOR, NF2, NRAS, PDGFRB, PIEZO1, PIK3CA, PIK3CD, PIK3R1, PIK3R2, PRKACA, PTEN, PTPN14, RASA1, SMAD3, SMO, TEK, TSC1 and TSC2.
6 genes sequenced: CDKN1C, GNA11, GNAQ, PIK3CA, PIK3R1 and TEK.
65 genes sequenced: ACVRL1, ARAF, BRAF, CCBE1, CCM2, CELSR1, CLDN14, CTNNB1, DCHS1, ELMO2, ENG, EPHB4, FAT4, FGFR1, FLT4, FOXC2, GATA2, GDF2, GJA4, GJC2, GLMN, GNA11, GNA14, GNAQ, GNAS, HGF, HRAS, IDH1, IDH2, KDR, KEL, KIF11, KRAS, KRIT1, LZTR1, MAP2K1, MAP2K2, MAP3K3, MET, MTOR, NF1, NRAS, PDCD10, PDGFRB, PIEZO1, PIK3CA, PIK3R1, PIK3R2, PRKACA, PTEN, PTPN11, PTPN14, RASA1, RHOA, SHOC2, SMAD4, SMO, SOS1, SOX18, SPRED1, STAMBP, TEK, TSC1, TSC2 and VEGFC.
Focused and Comprehensive panels available. Please call the laboratory to discuss specific scenarios.