my CGC
< Back to results
 
T-B+ severe combined immunodeficiency due to CD45 deficiency (sequence analysis of PTPRC gene)
PTPRC
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, Pulmonology/Pneumology


CGC Reference

- 3985




Associated Tests


Immunodeficiencies affecting cellular and humoral immunity (WES based NGS panel of 52 genes, including CNV analysis)