skip to content »

Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
not shown on screen

Medical Genetics Test Details

View Custom Req   |    Tests in Custom Req: 0
Search Tests: (Search by disease, test name, gene name, test code, or keyword. Return to test index.)

    Browse:  # A B C D E F G H I J K L M N O P Q R S T U V W X Y Z



JAK2 Exon 12 Mutation Analysis
Test Information: Indication for Study:

Identification of JAK2 Exon 12 Mutation.
Test Details
Test Code: 9015
Test Includes: Sequence Analysis of Exon 12 of the JAK2 gene

Special Notes: Myeloproliferative neoplasias (MPN or MPD) include chronic myeloid leukemia (CML), polycythemia Vera (PV), essential thrombocythemia (ET), and idiopathic myelofibrosis (IMF). Except for CML, the rest of disorders are BCR-ABL fusion negative and may carry somatic mutations on Janus kinase2 (JAK2) and/or MPL. Deletion/insertion/duplication/point mutations in exon 12 of JAK2 have been identified in MPNs. These mutations result in constitutive activation of the JAK2 tyrosine kinase. Identification of these mutations may have both diagnostic and therapeutic significance.

Technical Limitations:

This test is designed to detect mutations in exon 12 of the JAK2 gene only. The limit of the test is approximately 20 mutated cells in 100 total cells (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:
- Clonal Heterogeneity in Polycythemia Vera Patients with JAK2 Exon12 and JAK2-V617F Mutations.
Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions of exon 12 of the JAK2 gene.
Gene Name: JAK2
Protein Name: Janus Kinase 2
Sample & Shipping Information
Test Requisition: Tumor Analysis
Specimen Type: Bone Marrow
Requirements: 2-5 mL Bone Marrow (Min: 1 mL) in a 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: Leukemic Blood
Requirements: 5-10 mL Leukemic Blood (Min: 1 mL) in a 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: 81479x1


Return to test index