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Test Code D2999
Test Summary

Family member test for WGS TRIO analysis

Turn-Around-Time (TAT)* 6 - 8 weeks
Acceptable Sample Types
  • DNA, Isolated
  • Dried Blood Spots
  • Saliva
  • Whole Blood (EDTA)
  • Acceptable Billing Types
    *TAT starts after the sample and all required sample information is received at PerkinElmer Genomics, or after the benefits investigation is complete if requested for commercial insurance billing.
    DNA, Isolated
    Collection: Required DNA Quantity by Test Type*:
    • Next Generation Sequencing (NGS): Send >500ng total gDNA @ > 15ng/μL. Please ship samples in 10mM Tris. No EDTA.
    • Sanger Sequencing: Send 5 to 25 μg (varies by size of gene). Please contact the laboratory for specificamounts.
    • Non-Sequencing Tests: Send 20 μg
    • Array-based Tests: Send 10 μg
    *Required DNA Quality: High molecular weight DNA (>12kb). A260/A280 reading should be ≥ 1.8.
    Shipping: Ship overnight at ambient temperature.
    SPECIAL INSTRUCTIONS
    • Research Laboratories: DNA extracted in research laboratories is not acceptable. Only under exceptional circumstances (e.g. proband not available) will DNA extracted in a research laboratory be accepted for clinical testing. Additional testing (e.g. of other family members) may be required to confirm results.
    • Laboratories outside the United States: Non-US laboratories are not subject to CLIA regulations and will be reviewed on a case-by-case basis. Please call to speak with a laboratory genetic counselor prior to submitting a DNA sample from any non-CLIA certified laboratory.
    • Special Notes: If extracted DNA is submitted, information regarding the method used for extraction should be sent along with the sample.
    Dried Blood Spots
    Collection Container(s): Dried blood spot card
    Collection: Follow kit instructions. Briefly, allow blood to saturate card until indicated areas are filled and blood has soaked through card. Air dry card at ambient temperature for at least 3 hours.
    • NBS: Please contact PKIG to request the StepOne® kit.
    • Gene Sequencing: Please contact PKIG to request the DBS collection kit.
    Shipping: Follow kit instructions. Double bag and ship overnight at ambient temperature.
    Saliva
    Collection Container(s): ORAcollect®•Dx Saliva Swab Collection Kit
    Collection: Collect saliva in an ORAcollect®•Dx Saliva Swab Collection Kit according to the manufacturer's instructions. Please contact PerkinElmer Genomics to request the saliva swab collection kit for patients that cannot provide a blood sample as whole blood is the preferred sample.
    Condition: Store at ambient temperature. Do not refrigerate or freeze.
    Shipping: Ship overnight at ambient temperature.
    Whole Blood (EDTA)
    Collection Container(s):

    EDTA (purple top)

    Collection:

    Infants (< 2-years): 2 to 3 mL; Children (>2-years): 3 to 5 mL; Older children and adults: 5 to 10 mL Southern Blot Analysis requires 3 mL blood.

    Condition: Store at ambient temperature. Do not refrigerate or freeze.
    Shipping: Ship overnight at ambient temperature ensuring receipt within 4-days of collection.
    SPECIAL INSTRUCTIONS
    Clotted or hemolyzed samples are not accepted.