Calreticulin (CALR) Exon 9 Mutation Analysis, Bone Marrow

Calreticulin Exon 9 Mutation Analysis detects specific genetic mutations in exon 9 of the calreticulin (CALR) gene.

• To confirm suspected cases of ET or PMF when the Jak2 V617F mutation is negative. • To differentiate between different types of myeloproliferative neoplasms • To provide important prognostic information for patients • To guide personalised treatment strategies for better patient outcomes

This test may be recommended if you have • suspected ET or PMF, • negative results for Jak2 V617F mutation, • symptoms such as unexplained blood clots, excessive bleeding, or enlarged spleen, • a family history of myeloproliferative neoplasms, or • a need to monitor disease progression or response to treatment.

The presence of calreticulin exon 9 mutations indicates the likely diagnosis of essential thrombocythemia (ET) or primary myelofibrosis (PMF). Abnormal results require further evaluation.

During this test, a small amount of bone marrow is collected using a needle. The sample is sent to the laboratory for PCR Fragment Analysis.

• You need to provide a clinical diagnosis and test prescription from your referring clinician. • Follow any additional instructions provided by your doctor. • Inform your doctor if you have any specific requirements.

• Jak2 V617F Mutation Analysis: This test helps detect a different mutation associated with myeloproliferative neoplasms. • Blood Count and Peripheral Smear: These tests evaluate the overall blood cell counts and examine the appearance of blood cells under a microscope. • Bone Marrow Biopsy: This procedure is done to assess the presence of abnormal cells or fibrosis in the bone marrow.

Calreticulin Exon 9 PCR Fragment Analysis or CALR Exon 9 Mutation Test

Essential thrombocythemia is a chronic blood disorder characterised by an overproduction of platelets, leading to an increased risk of blood clots. Primary myelofibrosis is a rare bone marrow disorder causing scarring that disrupts normal blood cell production, leading to anaemia, enlarged spleen, and other symptoms.