c-KIT D816V Mutation Detection

Synonyms

c-KIT, c-KIT D816V

Allscripts (AEHR) Order Name

c-KIT D816V Mutation Detection

Sunrise Clinical Manager (SCM) Order Name

c-KIT D816V Mutation Detection

EPIC Order Name

KIT D816V

Clinical Info

Aggressive
systemic mastocytosis (ASM) is a rare subtype of systemic mastocytosis (SM)
characterized by the progressive growth of neoplastic mast cells in multiple
organs. In the majority of ASM cases (estimated >80%), the clonal nature of
the disease can be established through demonstration of a somatic A to T
missense mutation at position 2447 of the coding sequence in the KIT gene. The
resulting substitution of aspartic acid (D) to valine (V) at amino acid 816 is
referred to as the D816V mutation. Approximately 90% of ASM patients with
a mutation at KIT codon 816 have the D816V substitution. The c-KIT D816V
assay is a companion diagnostic test for the use of Gleevec® in the treatment
of ASM. ASM patients without the c-KIT D816V mutation may benefit from
treatment with kinase inhibitors such as Gleevec®.

Specimen Type

Blood, Bone Marrow

Specimen Volume

1-3 mL

Container

 Lavender Top Tube (EDTA)

Collection Instructions

Peripheral Blood or Bone MarrowContainer/Tube: Lavender-top (EDTA) tube(s)Specimen: 1-3 ml collected in EDTA (lavender top tubes). 

Transport Instructions

Room Temperature or 4 C

Specimen Stability

1 Week Refrigerated

Methodology

Digital PCR utilizing target specific fluorescent probes

Days Performed

Monday through Friday TAT: 8 Calendar days

Performing Laboratories

Northwell Health

CPT

81273

PDM

268667

Result Interpretation

An interpretative report will be provided.

Forms

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