Severe Congenital Neutropenia Gene Set | NGS

Genes SequencedAK2, AP3B1, ASXL1, CD40LG, CLPB, CSF3R, CXCR2, CXCR4, DNAJC21, DNM2, DOCK2, EFL1, EIF2AK3, ELANE, G6PC3, GATA1, GATA2, GFI1, GINS1, HAX1, IRAK4, JAGN1, KAT6A, KRAS, LAMTOR2, LYST, MYD88, NRAS, PGM3, PSTPIP1, RAB27A, RAC2, RUNX1, SBDS, SLC37A4, SMARCD2, SRP54, STK4, TAZ, TCIRG1, TCN2, TP53, USB1, VPS13B, VPS45, WAS, WDR1 and WIPF1
Test DetailsExtraction 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. aCGH send out testing for the AP3B1, GATA2, HAX1, RAB27A, SLC37A4, TAZ, VPS13B, WAS 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 2-4 Buccal swabs
Minimum Sample Volume2 ml
Storage/Transport ConditionsAmbient / 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 ConditionsFrozen specimens, clotted or hemolyzed specimens, inappropriate tube type
CPT Code(s)81479 (NGS and aCGH)