CALR Mutation NGS Analysis
Methodology
Molecular
Test Description and clinical significance
Genes
CALR
Disease:
Essential Thrombocythemia and Primary Myelofibrosis
Next generation sequencing of gene panel. Calreticulin is a highly conserved chaperone protein which resides primarily in the endoplasmic reticulum, and is involved in a variety of cellular processes, among them, cell adhesion. Additionally, it functions in protein folding quality control and calcium homeostasis. Calreticulin is also found in the nucleus, suggesting that it may have a role in transcription regulation.
JAK2 V617F and MPL are recommended.
Specimen Requirements
Collection:
At least 0.5 ml EDTA, citrate (ACD) or Heparinized whole blood or bone marrow aspirates for DNA mutations
Stability:
96hours/4 to 7 days refrigerated
Unacceptable Conditions:
Specimen submitted is in the incorrect fixative or anticoagulant. Specimen received after the stability date. Gross hemolysis. Frozen specimen. Insufficient specimen. Unlabeled. Left un-refrigerated for an extended period.
Storage & Transport
Blood, bone marrow specimens should be kept at room temperature and preferably received within 96 hrs of drawing. Samples that are 4 to 7 days old should be refrigerated.
CPT(s)
81219
New York Approved
YES
TAT
10 Days
*The CPT codes provided are for informational purposes only and are based on AMA guidelines The billing party is solely responsible for correct CPT coding.
