Order Code CXLPL CXCR4 Mutation Analysis, Somatic, Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinemia, Varies
Shipping Instructions
Whole blood or bone marrow specimens must arrive within 10 days of collection.
Necessary Information
The following information is required:
1. Pertinent clinical history
2. Clinical or morphologic suspicion
3. Date and time of collection
4. Specimen source
Specimen Required
Submit only 1 of the following specimens:
Preferred
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
3. Label specimen as blood.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Specimen Type: Bone marrow aspirate
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD)
Specimen Volume: 2 mL
Collection Instructions:
1. Invert several times to mix bone marrow.
2. Send bone marrow specimen in original tube. Do not aliquot.
3. Label specimen as bone marrow.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Acceptable
Specimen Type: Extracted DNA from blood or bone marrow
Container/Tube: 1.5- to 2-mL tube
Specimen Volume: Entire specimen
Collection Instructions:
1. Label specimen as extracted DNA from blood or bone marrow
2. Provide volume and concentration of the DNA
Specimen Stability Information: Frozen (preferred)/Refrigerated/Ambient
Specimen Type: Paraffin-embedded tissue
Container/Tube: Paraffin block
Specimen Stability Information: Ambient
Specimen Type: Tissue
Slides: Unstained slides
Specimen Volume: 10 to20 slides
Additional Information: Tissue must demonstrate involvement by a hematologic neoplasm (eg, acute myelocytic leukemia), not solid tumors.
Specimen Stability Information: Ambient
Forms
1. Hematopathology Patient Information (T676)
2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.
Useful For
Aiding in the prognosis and clinical management of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia
Genetics Test Information
This test detects gene mutations within the C-terminal end of the CXCR4 gene that are commonly found in association with MYD88 L265P mutations in cases of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia.
Special Instructions
Method Name
Bridged Nucleic Acids (BNA) Clamp Sanger Sequencing Technology/Routine Sanger Sequencing
(BNAClamp is utilized pursuant to a license agreement with BNA Inc)
Reporting Name
CXCR4 Mutation in B-cell LymphomaSpecimen Type
VariesSpecimen Minimum Volume
Whole blood, Bone marrow: 1 mL
Extracted DNA: at least 50 mcL with a concentration of at least 20 nanograms per mcL
Other specimen types: See Specimen Required
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Varies | 10 days |
Reject Due To
Gross hemolysis | Reject |
B5-fixed tissues Decalcified bone marrow core biopsies Frozen tissue Methanol acetic acid (MAA)-fixed pellets Moderately to severely clotted Paraffin shavings |
Reject |
Reference Values
Mutations present or absent in the test region c. 898-1059 (amino acids 300-353) of the CXCR4 gene (NCBI NM_003467.2, GRCh37)
Method Description
The C-terminal end of CXCR4 (NM_003467.2, c.898-1059) is amplified from extracted genomic DNA by polymerase chain reaction, followed by Sanger sequencing and capillary electrophoresis analysis. Review of the sequence data is performed using a combination of automated calls and manual inspection.(Unpublished Mayo method)
The hotspot mutations c.1013C>G/A (p.S338X) are examined using bridged nucleic acids clamped Sanger sequencing with an analytic sensitivity of 1%. All other genetic mutations in the test region are examined by routine Sanger sequencing with an analytic sensitivity of 15% to 20%.(Unpublished Mayo method)
Day(s) Performed
Monday through Friday
Performing Laboratory
Mayo Clinic Laboratories in RochesterCPT Code Information
81479-Unlisted molecular pathology procedure