Rasopathies Gene Set | NGS

Genes SequencedBRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SPRED1
Test DetailsExtraction of DNA, capture of the genes to be assayed, and sequencing of the entire coding region and select introns on the Illumina platform. Identified variants previously described in somatic overgrowth and related syndromes and other potentially pathogenic non-synonymous variants are reported with interpretations.
MethodologyNext-generation sequencing
PerformedMonday – Friday
Turnaround3 – 4 weeks
Specimen RequirementsPrimary specimen: Affected tissue in fresh or FFPE form or buccal swab (please call the laboratory prior to sending buccal swabs). Secondary specimen: Peripheral blood. Sample collection: Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing affected tissue. Fresh Tissue: Minimum of 4 mm of affected tissue in tissue culture or transport media.  Buccal Swabs: 2-4 buccal swabs (please call lab before sending).  Peripheral Blood: One (1) EDTA (lavender top) tube containing 2-5 mL.
Sample CollectionRoutine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing affected tissue. Peripheral Blood: One (1) EDTA (lavender top) tube containing 2-5 mL.
Minimum Sample VolumeNULL
Storage/Transport Conditions FFPE blocks: ambient /room temperature. Place in a sealed container (bag). Place primary container in a padded envelope. In seasonal warmer weather, include cold pack with shipment (DO NOT FREEZE). Recommend shipping for overnight delivery.  Fresh tissue: please place in tissue culture or transport media and ship refrigerated (cold packs). Overnight shipping required. Blood/Buccal swabs: Ambient/room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack with shipment (DO NOT FREEZE).
Unacceptable ConditionsPrior acid decalcification (EDTA is acceptable)
CPT Code(s) 81442