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Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Miraca Genetics Laboratories
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Medical Genetics Test Details

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CALR Mutation Analysis for Myeloproliferative Neoplasms
Test Information: Indication for Study:

Identification of CALR Exon 9 Mutation.
Test Details
Test Code: 9016
Test Includes: Sequence Analysis of Exon 9 of the CALR gene


Special Notes: Recent studies demonstrate that somatic mutations in the calcium-binding chaperone CALR are found in the majority of patients with myeloproliferative neoplasms with nonmutated JAK2 or MPL:

- ~70% patients with essential thrombocythemia (ET) without JAK2 or MPL mutation
- ~60% patients with primary myelofibrosis without JAK2 or MPL mutation
- ~80% patients with myelofibrosis secondary to ET without JAK2 or MPL mutation
- ~8% patients with myelodysplastic syndromes
- not found in AML or lymphoid malignancies
- >90% patients with MPN together with JAK2 and MPL testing

Benefit of the test:

- Diagnosis: Diagnosis of MPN for patients who are negative for JAK2 or MPL mutation
- Prognosis: Strong association with more indolent disease course, lower risk of thrombosis, and longer overall survival compared to MPN with a JAK2 or MPL mutation.
- Potential biomarker: Molecular monitoring of disease progresses and treatment response

Technical Limitations:

This test is designed to detect mutations in exon 9 of the CALR gene only. The limit of the test is approximately 10 to 20 mutated cells in 100 total cells (10 - 20%).

Results of this test must always be interpreted in the context of relevant clinical and pathological data, and should not be used alone for a diagnosis of malignancy.

Useful Publications:
- Somatic Mutations of Calreticulin in Myeloproliferative Neoplasms
- Somatic CALR Mutations in Myeloproliferative Neoplasms with Nonmutated JAK2
Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions of exon 9 of the CALR gene.
Gene Name: CALR
Protein Name: Calreticulin
Sample & Shipping Information
Test Requisition: Tumor Analysis
Specimen Type: Bone Marrow
Requirements: 2-5 mL Bone Marrow (Min: 1 mL) in an EDTA (purple-top) tube(s).

Transport Temperature: Ship at ambient temperature (18-25C/64-77F).

Unacceptable Conditions: Frozen specimens.

Stability: Ambient: 48 hours; Frozen: Unacceptable
Shipping Conditions: Ship at ambient temperature (18-25C/64-77F) in an insulated container by overnight courier. Specimen should arrive in the laboratory within 48 hrs of collection. Do not heat or freeze.


Specimen Type: FFPE - Slide(s)
Requirements: 10 unstained 5um FFPE slides containing adequate amounts of tumor to be analyzed with areas of tumor marked. Please include a copy of corresponding surgical pathology report.

Transport Temperature: sent at ambient temperature (18-25C/64-77F). Protect paraffin tissue from excessive heat. Ship in cooled container during summer months.

Unacceptable Conditions: No tumor in tissue. Frozen specimens and specimens fixed/processed in alternative fixatives.

Stability: Ambient: Indefinitely; Refrigerated: Acceptable.
Shipping Conditions: Ship at ambient temperature (18-25C/64-77F) in an insulated container by overnight courier. Do not heat or freeze.


Specimen Type: FFPE - Tumor Block
Requirements: Paraffin-embedded, formalin-fixed tissue block containing adequate amounts of tumor to be analyzed with areas of tumor marked. Please include a copy of corresponding surgical pathology report.

Transport Temperature: sent at ambient temperature (18-25C/64-77F). Protect paraffin tissue from excessive heat. Ship in cooled container during summer months.

Unacceptable Conditions: No tumor in tissue. Frozen specimens and specimens fixed/processed in alternative fixatives.

Stability: Ambient: Indefinitely; Refrigerated: Acceptable
Shipping Conditions: Ship at ambient temperature (18-25C/64-77F) in an insulated container by overnight courier. Do not heat or freeze.


Specimen Type: Leukemic Blood
Requirements: 5-10 mL Leukemic Blood (Min: 1 mL) in an EDTA (purple-top) tube(s).

Transport Temperature: Ship at ambient temperature (18-25C/64-77F).

Unacceptable Conditions: Frozen specimens.

Stability: Ambient: 48 hours; Frozen: Unacceptable
Shipping Conditions: Ship at ambient temperature (18-25C/64-77F) in an insulated container by overnight courier. Specimen should arrive in the laboratory within 48 hrs of collection. Do not heat or freeze.


Turn Around Time: 7 - 10 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81479 x 1


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