Calreticulin (CALR) Exon 9 Mutation Analysis, Blood

Calreticulin Exon 9 Mutation Analysis mutations in exon 9 of the CALR gene.

• To confirm a diagnosis of ET or PMF when the Jak2 V617F mutation is not detected • To monitor the effectiveness of treatment for ET or PMF patients • To assist in risk assessment for developing Jak2 V617F mutation-negative ET or PMF • To aid in distinguishing between different types of MPNs (Myeloproliferative Neoplasms)

• Suspected cases of ET or PMF where the Jak2 V617F mutation is negative • Patients with unexplained high platelet counts or enlarged spleen • Individuals with a personal or family history of ET or PMF • Suspected cases of other MPN disorders

The presence of specific calreticulin mutations indicates the likelihood of ET or PMF.

A blood sample of 3–5 ml is collected in an EDTA tube. The sample is sent to the laboratory for PCR Fragment Analysis.

• A clinical diagnosis and prescription from your referring clinician are mandatory. • Follow any specific instructions from your doctor regarding fasting or medication restrictions before the test. • Inform your doctor if you have any specific requirements.

• Jak2 V617F Mutation Analysis: Detects a mutation commonly associated with MPNs like ET and PMF • Bone Marrow Biopsy: Provides further information about the bone marrow's structure and function

Calreticulin Gene Exon 9 Mutation Analysis

Essential thrombocythemia is a rare blood disorder characterised by excessive production of platelets, leading to an increased risk of blood clots. Primary myelofibrosis is a chronic bone marrow disorder where abnormal cells replace healthy marrow, resulting in scarring and impaired blood cell production.