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c-KIT D816V mutation |
(Haematology) |
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| Investigation | : |
c-KIT D816V mutation | |
| Specimen type | : |
Bone marrow |
| Spec container | : |
EDTA
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| Volume required | : |
4 ml |
| Turnaround | : |
21 days |
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Samples should arrive within the laboratory within 72 hours of collection.
If sample cannot be sent immediately after bleeding, keep in 4 degree fridge and send as soon as possible.
KIT (CD117) is a type III receptor tyrosine kinase that is expressed by master cells, hematopoietic progenitor cells, germ cells, melanocytes and interstitial cells in the gastrointestinal tract. Detection of a somatic activating point mutation at codon 816 of KIT tyrosine kinase domain counts as diagnostic criteria for diagnosis of according to the WHO system diagnosis of systemic mastocytosis (SM). The D816V mutation has been found to occur in >80% of adult SM. Very rarely, other somatic KIT mutations (D815K, D816F, D816H, D816Y, and V560G) have been reported.
Contact HODS Molecular Biology Lab for further enquiries on Ext. 4326.
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