Test Code: PNL159

Lymphedema, hereditary and other conditions with lymphedema

Gene-Panel

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.

Sample Type

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

Turnaround Time

3 weeks days

Courier Requirements

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

Pricing

Genes Analyzed

43 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

Methodology

Capture-based target enrichment and Next Generation Sequencing

Test Code PNL159
Category Gene-Panel
Sample 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT 3 weeks days
Courier Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Genes 43 genes analyzed

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