Severe Congenital Neutropenia Gene Set | NGS

Genes Sequenced AP3B1, CSF3R, CXCR2, CXCR4, ELANE, G6PC3, GATA2, GFI1, HAX1, JAGN1, KRAS, LAMTOR2, LYST, NRAS, RAB27A, RUNX1, SBDS, SLC37A4, TAZ, TCIRG1, USB1, VPS13B, VPS45, WAS
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized as pathogenic, likely pathogenic, variant of unknown significance, likely benign, or benign. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.

For cases with negative results or isolated heterozygous mutations, additional testing by aCGH will be performed to detect deletions and duplications not detected by this assay.

Methodology Next-generation sequencing
Performed Monday – Friday
Turnaround 4 – 6 weeks
Specimen Requirements Peripheral Blood
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Minimum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, clotted or hemolyzed specimens, inappropriate tube type
CPT Code(s)  81407 (NGS); 81479 or 81407 (CGH array depending on gene tested)

Requisition