Genes
FGFR1

Disease:
Breast invasive ductal carcinoma, lung adenocarcinoma, colon adenocarcinoma, squamous cell lung carcinoma, stem cell myeloproliferative disorder, stem cell leukemia lymphoma syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome

Next generation sequencing of gene panel. The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction.

Collection:
3 mL of EDTA, citrate (ACD) or Heparinized bone marrow and peripheral blood specimens for RNA gene fusion detection

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.