JAK2V617F Mutation Analysis, Qualitative, With Reflex to JAK2 Exon 12-15 Mutation Analysis JAK2RLX

Synonyms

Allscripts (AEHR) Order Name

JAK2 V617F Mutation, Qualitative with Reflex to Exon12

Sunrise Clinical Manager (SCM) Order Name

JAK2 with Reflex Panel

Clinical Info

Aiding in the distinction between the myeloproliferative neoplasm polycythemia vera and other secondary erythrocytosis.

Specimen Type

Blood, Bone Marrow

Container

Lavender Top Tube

Collection Instructions

Container/Tube: 2 Lavender Top (EDTA) Tube
Specimen:10 ml whole blood (8 mL min) 4 mL Bone Marrow (2 mL min)
Transport Temperature: Refrigerated whole blood or Bone Marrow

Transport Instructions

Refrigerated whole blood

Specimen Stability

5 Days Room Temperature
5 days Refrigerated
Frozen: Unacceptable

Methodology

Taqman® real time PCR amplification/detection
Sanger sequencing
TESTING ALGORITHM
Both DNA and RNA are extracted. The algorithm starts with a highly sensitive DNA-based JAK2 V617F test by allele specific polymerase chain reaction. If the JAK2 V617F result is negative or very low positive (0.06%-0.6%), JAK2 exon 12-15 Sanger sequencing will be performed on the stored RNA sample. If a JAK2 V617F mutation (>0.6%) is detected, no further testing will be performed.
The Sanger sequencing covers JAK2 exons 12 through the first 90% of exon 15, which spans the region containing essentially all mutations reported in myeloproliferative neoplasms.

Days Performed

TAT: 8 - 13 Days

Performing Laboratory

Mayo Medical Laboratories

CPT

81270
 
LOINC Code: 43399-5

PDM

1659066

Result Interpretation

Reference Range: Not Detected
If JAK2 V617F is Not Detected Jak2 Exon 12 – 15 will be added at an additional charge

Forms

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