LOINC Code 53761-3: JAK2 gene.p.Val617Phe mutant/Normal Molgen (Bld/Tiss) [Relative ratio]

What is this code?

LOINC codes identify tests, measurements, observations, survey items, and clinical questions in a standardized way. It is associated with the component JAK2 gene.p.Val617Phe mutant/normal. It is commonly used with the system or sample type Bld/Tiss.

When is it used?

• Used in lab systems, EHRs, and clinical data exchange.
• May identify a test, observation, survey item, or clinical document request rather than a diagnosis.
• Status: ACTIVE
• Order vs observation: Both
• Method: Molgen

What it does not mean

• The code identifies the observation or test, not the actual result.

Key facts

• JAK2 gene.p.Val617Phe mutant/Normal in Blood or Tissue by Molecular genetics method
• JAK2 gene.p.Val617Phe mutant/normal
• The JAK2 gene is located on chromosome 9 and the V617F point mutation causes valine to phenylalanine substitution at position 617. JAK2 is a cytoplasmic protein, with the V617F mutation resulting in constitutive JAK2 activity and enhanced JAK2-signal transducers and activators of transcription signaling. The V617F point mutation causes the activation of these pathways, leading to uncontrolled cell proliferation, resulting in myeloproliferative disorders. This mutation is seen in most patients with polycythemia vera and about half of the patients with essential thromobcytopenia and idiopathic myelofibrosis. Mutation has also been found in some patients with Philadelphia chromosome negative Chronic Myelogenous Leukemia(CML), Chronic Myelomonocytic Leukemia(CMML), chronic neutrophilic leukemia, megakaryocytic leukemia, and some patients with myelodysplastic syndrome(MDS). Information from the American Society of Hematology (www.hematology.org; accessed 2007 03 02.) and ARUP Laboratories (2007 10 24).
• Blood; Control; Erythrocytosis; Genetics; Heredity; Heritable; Inherited; JAK2 p.V617F; JAK2 p.V617F mut; Janus kinase 2; Janus kinase 2 gene; JTK10; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; P prime; PCR; Point in time; Polycythemia vera; PV; QNT; Quan; Quant; Quantitative; Random; Relative ratio; THCYT3; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Where you may see this code

You may see this code in lab systems, lab reports, EHR exports, interoperability feeds, or other structured clinical data exchanges.

Common synonyms

Frequently asked questions