my CGC
< Back to results
 
Immunodeficiencies - defects of intrinsic and innate immunity (WES based NGS panel of 49 genes, including CNV analysis)
ACT1, APOL1, CARD9, CLCN7, CXCR4, CYBB, FCGR3A, HMOX1, IFIH1, IFNAR2, IFNGR1, IFNGR2, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, IRAK1, IRAK4, IRF3, IRF7, IRF8, ISG15, JAK1, MYD88, NBAS, NCSTN, OSTM1, PLEKHM1, PSEN1, PSENEN, RANBP2, RORC, RPSA, SNX10, STAT1,
Request Now


Methodology

NGS


Specimen Requirements


Descriptive Volume /
Concentration 1
Container Transport
temperature
Sample
viability (days) 2
DNA ≥ 100 µL [50 ng/µL] Eppendorf Safe-lock Room temp. n/a
Peripheral blood ≥ 3 mL EDTA Room temp. 5
1 When it is not possible to collect the minimum volume for the test, please contact CGC Genetics
2 Maximum shipping time to ensure sample quality

Turnaround Time (Days)

- 60

Specialties

- Rare diseases, Pediatrics, Primary immunodeficiency


CGC Reference

- 5048




Associated Tests


Osteopetrosis (NGS panel of 9 genes)
Candidiasis, familial (NGS panel for 5 genes)
Primary Immunodeficiency (WES based NGS panel of 332 genes, including CNV analysis)
Primary Hypertrophic Osteoarthropathy (NGS panel of 22 genes)
Structural diseases of basal ganglia (WES based NGS panel of 72 genes, including CNV analysis)