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Test Code ALK UM ALK Gene Sequencing

Clinical System Name

ALK Gene Sequencing

Synonyms

Neuroblastoma

Description

ALK gene sequencing is performed for a subset of patients with neuroblastoma.  A small percentage of these patients have a familial activating mutation in this gene which codes for a tyrosine kinase.  Siblings should be screened for tumor development in families with this mutation. 

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender/EDTA

Preferred Vol: 5 mL

Minimum Vol: 3 mL

 

Notes:  Other acceptable sample types include: Tumor Block.

Processing Instructions

Reject due to: Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Refrigerate blood in CPA refrigerator Sendouts rack.

 

Off-site collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole blood Room temp 3 d
Whole blood Refrigerated 7 d
Whole blood Frozen N

 

Availability

STAT TAT
N 4-6 w

 

Performing Laboratory

Children's Hospital of Philadelphia

Department

Department:

Dr. Pierre Russo - Pathology
324 S. 34th St; Main Building Rm 5203
Philadelphia, PA 19104
(215) 590-1729
 

Reference Range

Interpretive report is provided.

Methodology

Method: Mutations in the kinase domain (exons 21-28) are detected by sequence analysis.

Analytical Volume:

Limitations:

CPT Codes

81479x1

Clinical Utility

Neuroblastoma is a cancer of early childhood that arises from the developing autonomic nervous system and accounts for 15% of childhood cancer mortality. Neuroblastoma usually occurs sporadically but a subset of neuroblastoma cases are inherited in an autosomal dominant manner. Heritable mutations in the anaplastic lymphoma kinase (ALK) oncogene have been shown to be the main cause of familial neuroblastoma. A small subset of patients with presumed genetic predisposition to neuroblastoma also have germline mutations in the PHOX2B gene.

Send Out Instructions

Reference Test Name: Neuroblastoma (ALK Sequence Analysis)
Reference Test Number: None specified.
Instructions: Ship whole blood overnight, ambient temperature. Ship Tumor block on dry ice.