panel Somatic Overgrowth Syndrome and Vascular Malformations (18 genes)
This test is available for the following conditions:
- Conditions > Skin > Somatic overgrowth and vascular malformations
- Conditions > Oncogenetics > Somatic overgrowth and vascular malformations
- Sequence analysis of selected exons and flanking intron-exon boundaries
The panel ‘Somatic Overgrowth Syndromes and Vascular Malformations’ (version 1.0) can be used to detect low level (mosaic) mutations in tissue, with an analytical sensitivity of 1% mutant allele frequency in FFPE tissue with gDNA of sufficient quality. Upon request, the analysis can be performed to detect low mosaic mutations in blood derived gDNA. Using NGS, sequencing analyses is performed of hotspots and surrounding sequences in AKT1, AKT2, AKT3, BRAF, GNA11, GNA14, GNAQ, GNAS, HRAS, IDH1, IDH2, KRAS, MTOR, NRAS, PIK3CA, PIK3R2, TEK (TIE2), and coding and splice site sequences in PTEN and RASA1. See details below. Note that the analysis of PTEN and RASA1 is incomplete and does not replace germline diagnostics on blood derived gDNA.
Panel details: sequencing analysis of AKT1 (NM_005163.2) codon 17: AKT2 (NM_001626.5) codon 17, AKT3 (NM_005465.4) codon 17, BRAF (NM_004333.4) codon 455-488, 566-580, 594-605, GNA11 (NM_002067.4) codon 183 and 209, GNA14 (NM_004297.3) codon 205, GNAQ (NM_002072.3) codon 183 and 209, GNAS (NM_000516.5) codon 201 and 227, HRAS (NM_005343.3) codon 12, 13, 59 and 61, IDH1 (NM_005896.3) codon 132, IDH2 (NM_002168.3) codon 140 and 172, KRAS (NM_004985.4) codon 12, 13, 59, 61, 117 en 146, MTOR (NM_004958.3) codon 1458-1489, 1789-1820, 1971-1995, 2194-2220, 2404-2433, 2484-2509, NRAS (NM_002524.4) codon 12, 13, 59, 61, 117 and 146, PIK3CA (NM_006218.3) codon 76-117, 340-352, 354-381, 418-468, 539-554, 718-729, 907-920, 931-978, 1015-1069, PIK3R2 (NM_005027.3) codon 373, TEK (NM_000459.4) codon 897, 915-920, 925; sequencing analysis of >90% of coding exons and intron-exon boundaries (-/+5bp) in PTEN (NM_000314.6) and RASA1 (NM_002890.2).
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA