Test Code: PNL159

Genes: ABCC9, ADAMTS3, ALG8, ARAF, BRAF, CBL, CCBE1,CCDC88A, CDC42, CELSR1, EPHB4, FAT4, FLT4, FOXC2, FZD6, GATA2, GJA1, GJC2, HGF, HRAS, ITGA9, KIF11, KRAS, MAP2K1, MAP2K2, MET, MPI, NAGA, NRAS, PIEZO1, PIK3CA, PTEN, PTPN11, PTPN14, RAF1, RASA1, RIT1, SHOC2, SOS1, SOX18, THSD1, VEGFC, ZNHIT3 (43 genes)

Sample Type: 3 ml peripheral blood in EDTA (purple/pink top) tube

Method: Capture-based target enrichment and Next Generation Sequencing

Turnaround Time: 3 weeks

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 1800

Description:
This panel evaluates genes associated with isolated and syndromic lymphatic malformations (including but not limited to Meige Disease, Lymphedema Tarda and Milroy's Disease and Noonan Syndrome). Genetic diagnosis supports clinical confirmation, subtype classification, and personalized management. Inheritance is typically autosomal dominant with variable expressivity. Somatic mosaicism may underlie some pathogenic variants, necessitating tissue-specific analysis. Family risk assessment is enabled upon identification of causative mutations.