Clinical background :
This technique allows for the analysis of variants at low levels. It is available for the KIT D816V BRAF V600E and the JAK2 V617F. All cases of mastocytosis should be sent for ddPCR and not standard sequencing as the mutation is usually present at very low levels.
Specimen container paediatric :
EDTA for liquid samples and FFPE for tissue biopsies
Specimen container adult :
EDTA for liquid samples and FFPE for tissue biopsies
Minimum volume paediatric :
5 mL
Minimum volume adult :
5 mL
Special requirements :
Please complete NEHODS request form
Sample stability :
N/A
Transport requirements :
Samples should be sent to laboratory immediately.
Freq analysis :
N/A
Add on test :
Can be added to any genetics sample where DNA has been stored
Quality assurance :
N/A
Interpretation :
By genetics clinical scientist
Reference ranges :
N/A
Factors affecting result :
Quality and size of sample
Referenced documents :
N/A