CALR Mutation Analysis Deletion or Insertion in Exon 9 Test
Test Name: CALR Mutation Analysis Deletion or Insertion in Exon 9 Test
Components: EDTA Vacutainer (2ml)
Price: 1800.0 AED
Sample Condition: Bone Marrow/Peripheral Blood
Report Delivery: 7-8 days
Method: Sanger Sequencing
Test Type: Genetics
Doctor: Gynecologist
Test Department:
Pre Test Information: CALR Mutation Analysis (Deletion or Insertion in Exon 9) can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.
Test Details
The CALR gene is responsible for encoding the calreticulin protein, which is involved in calcium homeostasis and protein folding in the endoplasmic reticulum. Mutations in the CALR gene have been identified in various hematological malignancies, particularly in myeloproliferative neoplasms (MPNs) such as essential thrombocythemia (ET) and primary myelofibrosis (PMF).
One specific mutation in the CALR gene is a deletion or insertion in exon 9. This mutation results in a frameshift, leading to a change in the reading frame of the gene and the generation of a novel C-terminus. This mutation is mutually exclusive with other driver mutations, such as JAK2 or MPL mutations, and is found in approximately 25-30% of ET and PMF cases.
Detection of CALR exon 9 mutations can be performed using various molecular techniques, including polymerase chain reaction (PCR) followed by Sanger sequencing, allele-specific PCR, or next-generation sequencing (NGS) methods. These methods allow for the identification of the specific deletion or insertion in exon 9 and can help in the diagnosis and classification of MPNs.
The presence of CALR exon 9 mutations has been associated with specific clinical and laboratory features in MPNs. Patients with CALR mutations often have a younger age of onset, higher platelet counts, and a lower risk of thrombosis compared to those with JAK2 mutations. Additionally, CALR-mutated MPN patients may have a better overall survival compared to JAK2-mutated patients.
In conclusion, CALR mutation analysis, specifically the detection of deletions or insertions in exon 9, is an important molecular test for the diagnosis and classification of MPNs, particularly ET and PMF. This mutation is mutually exclusive with other driver mutations and has distinct clinical and laboratory features.
Test Name | CALR Mutation Analysis Deletion or Insertion in Exon 9 Test |
---|---|
Components | EDTA Vacutainer (2ml) |
Price | 1800.0 AED |
Sample Condition | Bone Marrow\/Peripheral Blood |
Report Delivery | 7-8 days |
Method | Sanger Sequencing |
Test type | Genetics |
Doctor | Gynecologist |
Test Department: | |
Pre Test Information | CALR Mutation Analysis (Deletion or Insertion in Exon 9) can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad. |
Test Details |
The CALR gene is responsible for encoding the calreticulin protein, which is involved in calcium homeostasis and protein folding in the endoplasmic reticulum. Mutations in the CALR gene have been identified in various hematological malignancies, particularly in myeloproliferative neoplasms (MPNs) such as essential thrombocythemia (ET) and primary myelofibrosis (PMF). One specific mutation in the CALR gene is a deletion or insertion in exon 9. This mutation results in a frameshift, leading to a change in the reading frame of the gene and the generation of a novel C-terminus. This mutation is mutually exclusive with other driver mutations, such as JAK2 or MPL mutations, and is found in approximately 25-30% of ET and PMF cases. Detection of CALR exon 9 mutations can be performed using various molecular techniques, including polymerase chain reaction (PCR) followed by Sanger sequencing, allele-specific PCR, or next-generation sequencing (NGS) methods. These methods allow for the identification of the specific deletion or insertion in exon 9 and can help in the diagnosis and classification of MPNs. The presence of CALR exon 9 mutations has been associated with specific clinical and laboratory features in MPNs. Patients with CALR mutations often have a younger age of onset, higher platelet counts, and a lower risk of thrombosis compared to those with JAK2 mutations. Additionally, CALR-mutated MPN patients may have a better overall survival compared to JAK2-mutated patients. In conclusion, CALR mutation analysis, specifically the detection of deletions or insertions in exon 9, is an important molecular test for the diagnosis and classification of MPNs, particularly ET and PMF. This mutation is mutually exclusive with other driver mutations and has distinct clinical and laboratory features. |