NGS-Identified Known Familial Variant Testing ()
Department: GE Clinical Genomics (OHO)
Test Synonym(s): LAB6319, Known Mutation Testing, Single Variant Testing, Single Mutation Testing, Familial Mutation Testing, Familial Variant Testing
Test Components: Sequence analysis of previosuly identified variant
CPT Codes: 81403 x1 for each variant tested (up to 5)
Methodology: NGS/Next Generation Sequencing
Reference Range: NA
Tube Type: Lavendar; Lavendar microtainer (peds); Special Collection Kit (Saliva)
Specimen: Blood, DNA (See Special Instructions) or Saliva
Pediatric Requirements: 1.0 mL
Volume: 4.0 mL
Temperature: Whole Blood: Refrigerated
Stability: Blood: 4 days; Saliva: 4 weeks
Reasons for Rejection: Clotted, hemodilute
TAT: 2 - 4 weeks
Significance: Sequence analysis for previously identified variants in family member to find family members who may also be affected as well as clarify if the variant contributes to phenotype.
Special Instructions: *FOR DNA SAMPLES* Extracted DNA must be received from a CAP/CLIA certified laboratory. Extracted DNA should be sent in a screw cap tube with at least 5 micrograms - 10 micrograms of purified DNA at a concentration of at least 50 ng/ul - 100 ng/uL, minimum 2 micrograms for limited specimens. Indicate patient's name, date of birth, and concentration on tube label. Please contact the lab with any questions.
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