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KIT D816V

Test Catalog Information

Test Catalog Synonyms
EPIC Synonyms KIT D816V
Systemic Mastocystosis
C-KIT
Cerner Primary MnemonicKIT D816V
EPIC Display NameKIT D816V
Allscripts (AEHR) Order Name

KIT D816V

Sunrise Clinical Manager (SCM) Order Name

KIT D816V

EPIC Inpatient Orderable Yes
EPIC Outpatient Orderable Yes
Cerner Results C-KIT (D816V)
Clinical Info

Systemic mastocytosis is characterized by the infilitration of clonal mast cells in the bone marrow, tissue, liver, and skin. Mutational testing for KIT D816V is a diagnostic tool for systemic mastocytosis because the majority of confirmed diagnoses harbor this mutation. Bone marrow evaluation is the primary diagnostic tool for systemic mastocytosis and provides the most reliable prognosis. Patients that harbor the KIT mutation exhibit resistance to tyrosine kinase inhibitor therapy, such as imatinib. When KIT is mutated in the presence of RUNX1 the patient prognosis is unfavorable.

Specimen Type

Container

Green Top Tube

Collection Instructions

Container/Tube: Lavender(EDTA) Top Tube- Peripheral blood Dark Green Top- Bone Marrow Specimen: 5 mL Peripheral Blood 2 mL Bone Marrow Transport Temperature: Room Temperature

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Pyrosequencing

Days Performed

TAT: 5 -6 Days

Performing Laboratory

BioReference Laboratories

CPT

81273 LOINC Code: 51185-7

PDM

235036

Desired Epic Build KIT D816V

Cerner Primary Mnemonic: KIT D816V
PDM 235036
Informatics - WorkgroupMolecular-send outs
Synonyms *KIT D816V
Systemic Mastocystosis
C-KIT
Display Name *KIT D816V
Order Entry Specimen Sources *
Order Entry Specimen Types
Blood
Bone Marrow
Specimen Navigator Specimen Types
Specimen Navigator Specimen Sources
Specimen Navigator Short Name
Ordering info (EPIC SmartText)Systemic mastocytosis is characterized by the infilitration of clonal mast cells in the bone marrow, tissue, liver, and skin. Mutational testing for KIT D816V is a diagnostic tool for systemic mastocytosis because the majority of confirmed diagnoses harbor this mutation. Bone marrow evaluation is the primary diagnostic tool for systemic mastocytosis and provides the most reliable prognosis. Patients that harbor the KIT mutation exhibit resistance to tyrosine kinase inhibitor therapy, such as imatinib. When KIT is mutated in the presence of RUNX1 the patient prognosis is unfavorable.
IP Orderable Yes
OP Orderable Yes
AOEs *

AP AOEs
Special History No
Build Comments
Filter *genetics
Procedure Category Change
Cerner Results

Result DescResult displayResult PDM
C-KIT (D816V) C-KIT (D816V) 235036A

Current Actual EPIC Build as of 10/28/2024

Procedure Id 137039
Pdm 235036
Order Display Name KIT D816V
Procedure Name KIT D816V
Procedure Master Number LAB12483
Short Procedure Name KIT D816V
Category Code 1.0
Category Code Record Name LAB BLOOD ORDERABLES
Synonyms KIT D816V Systemic Mastocystosis C-KIT
Clinically Active Yes
Orderable Yes
Performable Yes
Filter Genomics Generic Genomics Procedure
Reference Link Url https://labs.northwell.edu/epic/test/137039
Ordering Instructions
Default Specimen Type Blood
Specimen Type Pick List Bone Marrow Blood
Specimen Type List
Op Specimen Type List
Specimen Source Pick List Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous Bone Marrow Aspirate
Specimen Source Default - Male Blood, Venous
Specimen Source Default - Female Blood, Venous
Specimen Source List
Op Specimen Source List
Ip Lab Test Components For Report
Op Lab Test Components For Report
Order Questions []
Order Questions Record Name
Inpatient Order Questions []
Inpatient Order Questions Record Name
Order Specific Question Override
Inpatient Question Override
Location Restrict List Ip
Location Restrict List Ip Record Name
Location Restrict List Include Ip
Location Restrict List Op
Location Restrict List Op Record Name
Location Restrict List Includes Op
Edp Amb Order Specific Questions Record Name
Edp Ip Order Specific Questions Record Name
Edp Ip Specimen Source Blood, Venous Blood, Central Line Blood, Arterial Blood, Capillary
Edp Op Specimen Source
Edp Ip Specimen Type Blood
Edp Op Specimen Type
Derived Edp Ip Buttons S Blood, Central Line Blood, Venous Blood, Capillary Blood, Arterial
Derived Edp Ip Buttons T Blood
Derived Edp Op Buttons S
Derived Edp Op Buttons T
Ip Orderable 1
Op Orderable 1
EPIC OP AOEs

EPIC IP AOEs

EPIC Components (results)

Component IDComponent NameBase NameCommon NameExternal NameCerner Result PDM
3047806888 C-KIT (D816V) CKIT C KIT D816V 235036A