Blau Syndrome (NOD2/CARD15 Complete Gene)

Molecular Test Requisition Specimen Information Billing Information Contact Us CPT Codes      Print Page

BLAU SYNDROME (NOD2/CARD15 COMPLETE GENE)

Gene Symbol: NOD2

Chromosomal Locus: 16q12.1
 
Protein: Nucleotide-Binding Oligomerization Domain Protein 2 or Caspase Recruitment Domain-Containing Protein 15
 
Pseudonyms: Card15
 
TURNAROUND TIME: 4 weeks
 
TESTING METHODOLOGY: Polymerase chain reaction (PCR) followed by sequencing all 12 exon coding regions and the intron/exon borders.
 
SPECIMEN REQUIREMENTS:
  • Collect: Prefer two 5ml whole blood EDTA (lavender top) tube.
  • Min. Collection: 0.7 ml whole blood EDTA.
  • Transport: blood EDTA at Room Temp shipped regular next day air (No Saturday delivery; store specimen at 4°C and ship Monday).
  • Stability: Ambient: up to 7 days; Refrigerated: 2 weeks. Frozen: unacceptable
  • Unacceptable Conditions: Serum. Frozen or severely hemolyzed blood. Clotted blood.
  • Prenatal testing: Direct: 5ml direct unspun amniotic fluid or 15mg CVS tissue with a backup flask growing. Culture: confluent T25 flask. Maternal blood sample is required for maternal cell contamination studies.
A Molecular Genetics Laboratory Test Requisition must accompany the specimen. Contact the Molecular Laboratory at 918-502-1721 to obtain further information.
 
Note: Counseling and informed consent are recommended for genetic testing. A consent form is available as a resource but not required.

INTERPRETATIVE DATA:
 
Incidence: Uncertain but rare
 
Inheritance: Autosomal dominant
 
Disease Characteristics: Blau syndrome is classically characterized by early-onset granulomatous arthritis, uveitis and skin rash with camptodactyly. This condition shows a high degree of variable expression. Patients can often display only one symptom or have a unique presentation. The symptoms can overlap with Crohn Syndrome.
 
Molecular Genetic Mechanism: A variety of mutations have been cited throughout the entire gene.
 
 
Analytical Sensitivity: 99%.
 
Test Limitations: Mutations that are not in the coding sequence of the NOD2 gene will not be detected. Rare diagnostic errors can occur due to primer / probe site mutations or rare polymorphisms.
 
INDICATIONS FOR USE:
  • To confirm a clinical diagnosis.
  • To determine whether a patient may respond well to glucocorticoid treatment.
  • To help differentiate Blau and Crohn syndrome patients.
  • Individuals at risk who wish prenatal diagnosis.
ADDITIONAL RESOURCES:
 
OMIM Blau Syndrome: www.omim.org/entry/186580
OMIM NOD2 Gene: www.omim.org/entry/605956
Genetics Home Reference: www.ghr.nlm.nih.gov/gene/NOD2