INI1 Molecular
- Synonyms: SMARCB1,BAF47, Rhabdoid tumor
Collect
Frozen tumor tissue and peripheral blood
Volume Required
0.5 x 0.5 x 0.5 cm tumor tissue and 3 cc blood
Minimum Required
0.5 x 0.5 x 0.2 cm tumor and 1 cc blood
Transport
Tumor on dry ice
Blood at room temperature
Days Performed
Monday through Friday
Reported
2-3 weeks
Reflex Testing
SNP array
CPT
contact lab
Disease Information
Clinical Features:
Tumor with histology suggestive of atypical teratoid/rhabdoid tumor; malignant rhabdoid tumor or extra-renal rhabdoid tumor
Molecular Genetics:
Mutation and deletion analysis of INI1/SMARCB1 gene in 22q11.2
Test Methods:
Direct sequence analysis of 9 coding exons; MLPA; FISH
Detection Rate:
98%
Utility:
Diagnostic testing and germline analysis for risk assessment
Contact Us
- (215) 590-5257
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