Janus Kinase-2 DNA Mutation Assay
(JAK2)

Sample type

Whole blood, bone marrow or cell pellet

Uses

• To help diagnose bone marrow disorders characterised by the overproduction of one or more types of blood cells known as myeloproliferative neoplasms (MPNs)

• The JAK2V617F (exon 14) mutation analysis can be used in conjunction with bone marrow histology and cytogenetic analysis to assist in the diagnosis of myeloproliferative neoplasms (MPN). The JAK2V617F mutation is found in almost all patients with polycythemia vera (PV) and in nearly one- half of those with idiopathic myelofibrosis (IMF) and with essential thrombocythemia (ET). The V617F mutation has also been detected, although infrequently, in other myeloid disorders, such as chronic myelomonocytic leukemia and chronic neutrophilic leukemia.

Precautions

You don’t need any special preparations for an Janus Kinase-2 ( JAK2) DNA Mutation Assay

Interfering factors

• The results of a genetic test may be affected by DNA rearrangements, blood transfusion, bone marrow transplantation, or rare sequence variations.

• Genetic causes of MPDs, other than the V617F mutation, will not be detected.

Pre-analytical errors

• Specimen does not meet collection criteria

• frozen whole blood, marrow, or cell pellet

• leaking tube

• clotted blood or marrow

• grossly hemolyzed specimen or otherwise visibly degraded

• contamination by another specimen

• specimens containing suspicious foreign material

The corrective action

The sample must be rejected and another sample obtained

Post-analytical errors

1-reports sent to the wrong patient

2- -write the wrong name in the report or the wrong results.

The corrective action

1-communication with patient, apologising for the error, and providing him with the correct report

2-If the report is not delivered to the patient and this error is discovered, the correct result or the correct name must be written, but if the report is delivered to the patient, you must communicate with him, apologise to him, and tell him that an error has occurred and replace it with the correct report.

Reference range

an individual is negative for the JAK-2 gene mutation when the frequency of wild-type and mutant alleles is 100% and 0%, respectively