Test Code: PNL120

Focal segmental glomerulosclerosis/nephrotic syndrome (25 Genes)

Rare diseases

This gene panel covers a genetically heterogeneous group of conditions that primarily affect the podocyte, the specialised cell that forms the kidney's filtration barrier. The panel is designed to identify monogenic causes of Focal Segmental Glomerulosclerosis (FSGS) and Nephrotic Syndrome (NS).

Sample Type

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

Turnaround Time

21 - 28 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

56 genes

ACTN4 ALG1 ANLN APOL1 [Chr22(GRCh37):g.36661895-36661916 and g.36662023-36662062 only] ARHGAP24 ARHGDIA CD2AP CLCN5 COL4A3 COL4A4 COL4A5 COQ2 COQ6 COQ8B CRB2 CUBN DGKE EMP2 FAN1 FAT1 FN1 INF2 ITGA3 ITGB4 KANK2 LAMA5 LAMB2 LMX1B MAGI2 MYH9 MYO1E NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93 OCRL PAX2 PDSS2 PLCE1 PLCG2 PMM2 PODXL PTPRO SCARB2 SGPL1 SMARCAL1 TBC1D8B TRPC6 TTC21B WDR73 WT1 ZMPSTE24

Methodology

Probe-based hybrid capture for all coding exons and flanking intronic regions of the targeted genes, then sequenced by paired-end NGS.

Test Code PNL120
Category Rare diseases
Sample 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT 21 - 28 days
Courier Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Genes 56 genes analyzed

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