Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Panel | NGS

Genes Sequenced52 genes sequenced: ACE, ACTN4, ADCK4 (COQ8B), ANLN, APOL1, ARHGAP24, ARHGDIA, CD2AP, CLCN5, COL4A3, COL4A4, COL4A5, COQ2, COQ6, CRB2, CUBN, EMP2, FAT1, INF2, ITGA3, ITGB4, KANK1, KANK2, KANK4, LAGE3, LAMB2, LMX1B, MAGI2, MEFV, MYH9, MYO1E, NEIL1, NPHS1, NPHS2, NUP107, NUP205, NUP93, OCRL, OSGEP, PDSS2, PLCE1, PTPRO, REN, SCARB2, SMARCAL1, TP53RK, TPRKB, TRPC6, TTC21B, WDR73, WT1 and XPO5
Test DetailsDNA extraction, exome capture and sequencing on the Illumina platform. Identified variants are classified using ACMG/AMP and ClinGen guidelines. aCGH send out testing for the CLCN5, COL4A5, NPHS1 and NPHS2 genes is performed when NGS does not identify any pathogenic or likely pathogenic variants.
MethodologyNext-generation sequencing
PerformedMonday – Friday
Turnaround3 – 4 weeks
Specimen RequirementsPeripheral blood or Buccal swabs
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood or 2 Buccal swabs
Minimum Sample Volume1 ml; 1 swab
Storage/Transport ConditionsAmbient / room temperature unless delivery will exceed four hours, then refrigerated temperature is preferred.
Unacceptable ConditionsFrozen specimens, clotted or hemolyzed specimens, inappropriate tube type
CPT Code(s)81479 x 2 (NGS and aCGH send out)