Lab Test

Test Definition Number : 232
Test Definition Name : NPM1 sequence analysis
Lab Name : OHSU Knight Diagnostics Lab
Lab Test Number of THIS Version : 1238
Lab Test Name : Nucleophosmin Mutation Testing
Status : Active
Expired : No
Updated : 2018-05-04 09:25 EDT

General Attributes

Chromosome Band : 5q35.1
HUGO Gene Name : [NPM1] nucleophosmin (nucleolar phosphoprotein B23, numatrin)
ICD-Oncology Code
(includes WHO classification diagnoses)
:

Infectious Disease Attributes

Agent Category :
Non-virus Genus and Species :
Virus Family, Genus, and Species :

Lab-specific Attributes

Method : Polymerase Chain Reaction (PCR) - Real Time
Sequencing - Sanger - Uni-directional
Specimen Source
(for clinical patient care these sources must be validated)
: Blood - Whole Blood
Bone Marrow Aspirate
ICD-10 Code :
Use : Clinical - CLIA-certified lab
Genetics Category : Acquired (somatic)
SNOMED CT :
LOINC :
Comments : The nucleophosmin (NPM) protein shuttles between the nucleus and cytoplasm and is involved in ribosomal regulation, centrosome duplication and regulation of apoptosis. Mutations of this gene have been discovered in 35% of all AML cases and approximately 50% of AML cases with normal cytogenetics.1 The mutation is >97% of the time a four base pair insertion near the C-terminus between nucleotide 960-961 or 964-5 in exon 12. Other rare reported mutations include a 9bp insertion between 965-966 (2 cases out of 166), two 2bp insertions (1 case out of 166) between 960-961 and 962-9632, and a 13bp insertion with a 9bp deletion (1 case out of 408) at position 965-9733. The mutation is always heterozygous and results in a frameshift. The mutation results in a longer protein due to the creation of a new stop codon further downstream. The mutated protein is retained in the cytoplasm. The mutation is associated with significantly better complete remission rates in AML.
Specimen Transport Requirements : 5-10mL Blood or Bone Marrow (ACD or EDTA) Package and ship specimens to remain cold, but not frozen. Ship via overnight express. Contact Client Services at (855) 535-1522 for shipping kits and instructions.
Samples Available for Proficiency Test Sample Exchange : Yes

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