Ordering Recommendations

Indications for testing include:
  1. Confirm a diganosis of Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF)
  2. Confirm cases of myeloproliferative neoplasm
  3. Monitor the presence of the c.1544G>T and c.1543_1544TG>AA mutations in patients undergoing targeted therapy

Performed

Monday - Friday

Methodology

Real-Time Polymerase Chain Reaction

Reported

Routine: 5 - 7 days

Synonyms

  • Clinical Genomics
  • Myeloproliferative Disorders
  • Myeloproliferative Neoplasms
  • Primary Myelofibrosis (PMF)
  • Essential Thrombocythemia (ET)
  • p.W515K
  • p.W515L
  • c.1543_1544TG>AA
  • c.1544G>T
  • MPL Gene
  • MPL Mutations
  • Myeloproliferative Leukemia (MPL)
  • Myeloproliferative Leukemia Gene

Performing Lab

Clinical Genomics

Turnaround Time

7 days

Add-on Eligibility

Yes, within 7 days of collection
*If DNA has been extracted previously for other Clinical Genomics tests, this is stored for 6 weeks and may qualify for add-on

Specimen Type

  1. Blood
 
OR
 
  1. Bone Marrow

Specimen Volume

Blood: 5 mL (Minimum: 1 mL)
Bone Marrow: 3 mL (Minimum: 1 mL)

Collection Container

Blood: EDTA Whole Blood Tube (Lavender Top Vacutainer)


Bone Marrow: 3.0 mL EDTA Whole Blood Tube (Lavender Top Vacutainer)

Unacceptable Conditions

  1. Severely clotted or grossly hemolyzed specimens
  2. Specimens that have been improperly collected, stored, or transported
  • Specimens collected in preservatives other than EDTA
    • ACD tubes are accepted, but EDTA is preferred
  • Serum or plasma
  • Specimens that have been frozen
  • Commingled specimens
  1. Specimens in tubes that have been damaged or broken during transport
  2. Specimens with insufficient volume for testing
  3. Unlabeled or mislabeled specimens

Storage/Transport Temperature

Transport Instructions      
Collection Location Transport Temperature Processing Required Timeframe
ED/Inpatient Room Temperature None Specimen must be received by the lab within 3 days of collection
Laboratory/Outpatient/Off-Site Room Temperature None Specimen must be received by the lab within 3 days of collection

Storage: Refrigerated

Stability (from collection to initiation)

Stability:
Prior to Extraction:
  • Room Temperature: 3 days
  • Refrigerated: 7 days
  • Frozen: Unacceptable
Extracted DNA:
  • Room Temperature: Unacceptable
  • Refrigerated: Unacceptable
  • Frozen: Indefinitely

Laboratory Storage: 
  • Original Specimen: Refrigerated
  • Extracted DNA: Frozen
Laboratory Retention: 
  • Original Specimen: 1 month
  • Extracted DNA: 6 weeks

Collection Instructions

Labeling Instructions:
When labeling blood tubes, leave a small window visible for the lab to assess the fill volume and sample integrity. Ensure that the barcode is in the correct orientation.


Collection Instructions:
Follow the correct order of draw when collecting with additional orders and tube types:
     

Reference Interval

Not Detected: Negative for the MPL c.1544G>T (p.W515L) and c.1543_1544TG>AA (p.W515K) mutations

Interpretive Data

BCR-ABL1 negative chronic myeloproliferative neoplasms include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). These disorders are clonal hematopoietic stem cell malignancies characterized by over production of blood cells. The c.1544G>T (p.W515L) and c.1543_1544TG>AA (p.W515K) mutations in the myeloproliferative leukemia (MPL) gene, which encodes the thrombopoietin receptor, are found in 5% and 1% respectively of JAK2 c.1849G>T negative patients with PMF and ET, but not in patients with PV. These mutations result in a constitutively active MPL protein which stimulates the overproduction of megakaryocytes, leading to thrombocytosis and/or myelofibrosis.

Methodology: Polymerase chain reaction and fluorescence monitoring

Limitations: Diagnostic error may occur with this test due to rare genetic variation at a primer binding site. This test is specific for the c.1544G>T (p.W515L) and c.1543_1544TG>AA (p.W515K) mutations in the MPL gene and will not detect other mutations within the MPL gene or within other genes. 

This test was developed and its performance characteristics determined by the UC San Diego Health System Molecular Diagnostics Laboratory. It has not been cleared or approved by the US Food and Drug Administration. FDA clearance or approval is not required for clinical use. The result of this test should be interpreted using all relevant clinical data and should not be used alone for clinical diagnosis or patient management decisions.
Ordering

Ordering Recommendations

Indications for testing include:
  1. Confirm a diganosis of Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF)
  2. Confirm cases of myeloproliferative neoplasm
  3. Monitor the presence of the c.1544G>T and c.1543_1544TG>AA mutations in patients undergoing targeted therapy

Performed

Monday - Friday

Methodology

Real-Time Polymerase Chain Reaction

Reported

Routine: 5 - 7 days

Synonyms

  • Clinical Genomics
  • Myeloproliferative Disorders
  • Myeloproliferative Neoplasms
  • Primary Myelofibrosis (PMF)
  • Essential Thrombocythemia (ET)
  • p.W515K
  • p.W515L
  • c.1543_1544TG>AA
  • c.1544G>T
  • MPL Gene
  • MPL Mutations
  • Myeloproliferative Leukemia (MPL)
  • Myeloproliferative Leukemia Gene

Performing Lab

Clinical Genomics

Turnaround Time

7 days

Add-on Eligibility

Yes, within 7 days of collection
*If DNA has been extracted previously for other Clinical Genomics tests, this is stored for 6 weeks and may qualify for add-on
Collection

Specimen Type

  1. Blood
 
OR
 
  1. Bone Marrow

Specimen Volume

Blood: 5 mL (Minimum: 1 mL)
Bone Marrow: 3 mL (Minimum: 1 mL)

Collection Container

Blood: EDTA Whole Blood Tube (Lavender Top Vacutainer)


Bone Marrow: 3.0 mL EDTA Whole Blood Tube (Lavender Top Vacutainer)

Unacceptable Conditions

  1. Severely clotted or grossly hemolyzed specimens
  2. Specimens that have been improperly collected, stored, or transported
  • Specimens collected in preservatives other than EDTA
    • ACD tubes are accepted, but EDTA is preferred
  • Serum or plasma
  • Specimens that have been frozen
  • Commingled specimens
  1. Specimens in tubes that have been damaged or broken during transport
  2. Specimens with insufficient volume for testing
  3. Unlabeled or mislabeled specimens

Storage/Transport Temperature

Transport Instructions      
Collection Location Transport Temperature Processing Required Timeframe
ED/Inpatient Room Temperature None Specimen must be received by the lab within 3 days of collection
Laboratory/Outpatient/Off-Site Room Temperature None Specimen must be received by the lab within 3 days of collection

Storage: Refrigerated

Stability (from collection to initiation)

Stability:
Prior to Extraction:
  • Room Temperature: 3 days
  • Refrigerated: 7 days
  • Frozen: Unacceptable
Extracted DNA:
  • Room Temperature: Unacceptable
  • Refrigerated: Unacceptable
  • Frozen: Indefinitely

Laboratory Storage: 
  • Original Specimen: Refrigerated
  • Extracted DNA: Frozen
Laboratory Retention: 
  • Original Specimen: 1 month
  • Extracted DNA: 6 weeks

Collection Instructions

Labeling Instructions:
When labeling blood tubes, leave a small window visible for the lab to assess the fill volume and sample integrity. Ensure that the barcode is in the correct orientation.


Collection Instructions:
Follow the correct order of draw when collecting with additional orders and tube types:
     
Result Interpretation

Reference Interval

Not Detected: Negative for the MPL c.1544G>T (p.W515L) and c.1543_1544TG>AA (p.W515K) mutations

Interpretive Data

BCR-ABL1 negative chronic myeloproliferative neoplasms include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). These disorders are clonal hematopoietic stem cell malignancies characterized by over production of blood cells. The c.1544G>T (p.W515L) and c.1543_1544TG>AA (p.W515K) mutations in the myeloproliferative leukemia (MPL) gene, which encodes the thrombopoietin receptor, are found in 5% and 1% respectively of JAK2 c.1849G>T negative patients with PMF and ET, but not in patients with PV. These mutations result in a constitutively active MPL protein which stimulates the overproduction of megakaryocytes, leading to thrombocytosis and/or myelofibrosis.

Methodology: Polymerase chain reaction and fluorescence monitoring

Limitations: Diagnostic error may occur with this test due to rare genetic variation at a primer binding site. This test is specific for the c.1544G>T (p.W515L) and c.1543_1544TG>AA (p.W515K) mutations in the MPL gene and will not detect other mutations within the MPL gene or within other genes. 

This test was developed and its performance characteristics determined by the UC San Diego Health System Molecular Diagnostics Laboratory. It has not been cleared or approved by the US Food and Drug Administration. FDA clearance or approval is not required for clinical use. The result of this test should be interpreted using all relevant clinical data and should not be used alone for clinical diagnosis or patient management decisions.

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