SMARCB1 Rhabdoid Analysis, Tissue - LG6188


Sunquest Code:LSMISC  
Epic Code:LAB4909Epic Name:Send Outs Misc Test
Synonyms:Schwannomatosis Tumor; Rhabdoid Tumor Predisposition Syndrome
CPT Code:81405, 81404, 81402, 81403 x2
Turnaround Time:Specimens are sent to reference laboratory Mon-Thur before 1300; results are reported within 4-5 weeks.
Special Instructions:Specimens must be kept at room temperature and received at the testing laboratory within 60-72 hours of collection. For Saturday delivery, contact the reference laboratory at 1-205-934-5562 before 1400 CST on Friday. A completed requisition must accompany each specimen. See Associated Links.
Associated Links:

Univ of Alabama Dept of Genetics Requisition Form



Collection Instructions

Specimen:Fresh tumor tissue or paraffin block of tumor
Optimal Volume:Fresh: 5 mm cubed or 70% tumor content. Paraffin block: 5 mm squared or at least 3-6 loose paraffin curls (no slides) that are 30-50 microns thick.


Processing and Shipping

Shipping Instructions:Ship overnight at room temperature to arrive within 60-72 hours of collection.
Test Performed at or Referral Lab Lab Sendouts  (University of Alabama at Birmingham (Dept of Genetics) Med Genomics)
Referral Lab number:SB14RT


Interpretive

Reference Range:By report.
Use:Comprehensive DNA-based testing for RTPS on a tumor specimen by direct sequencing and dosage (del/dup) analysis by MLPA of the SMARCB1 gene. Any mutations found in the tumor tissue will be confirmed in blood at no additional cost if the blood sample is submitted the same week as the tumor specimen.


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