Factor VIII Inversion DNA (Sendout)

General Information

Lab Name

Factor VIII Inversion DNA (Sendout)

Lab Code

RDF8IN

Epic Name

Factor VIII Inversion DNA (Sendout)

External Test Id

3250-05

Description

Test Information: In severe hemophilia A, a common recurrent intron 22 gene inversion accounts for ~45% of the cases. A recurrent intron 1 inversion accounts for ~5% of the cases. These two sites are the first to be screened for severe hemophilia A patients.

    If mutation is not identified, further screening can be performed by DNA Hemophilia A Mutation Evaluation. Request "reflex to DNA Hemophilia A Mutation (Test 3250-02)" on the Bloodworks requisition or via Epic order question.

      Ordering Requirements:

      • Orders from Washington Center for Bleeding Disorders (SEAWBD) and FHCC Hematology are pre-approved. Orders from other locations require Laboratory Medicine Resident approval.
      • For orders not submitted via Epic or ISEAWBD interface, providers must complete a Bloodworks NW Eastlake Genomics Lab Requisition.

      References

      1. Bloodworks Northwest Ordering Information: Bleeding Disorders

      Synonyms

      3250-05, Hemophilia A, Intron 1, Intron 22 Inversion

      Components

      Code Name
      RDF8IS Factor VIII Inversion DNA Sample Type
      RDF8IR Factor VIII Inversion DNA Result
      RDF8IL Factor VIII Inversion DNA Performing Lab

      Interpretation

      Method

      Polymerase Chain Reaction (PCR) Based

      Reference Range

      See individual components

      Ref. Range Notes

      See report.

      Ordering & Collection

      Specimen Type

      Blood

      Collection

      Whole Blood: 10 mL LAVENDER TOP EDTA tube

      Cultured Amniocytes: Two T-25 flasks of cells cultured to confluency

      Forms & Requisitions

      Approval Required

      Pre-approved for Washington Center for Bleeding Disorders (SEAWBD) and FHCC Hematology. Orders from other locations require LMR approval.

      Handling Instructions

      Outside Laboratories:

      • Refrigerate whole blood while awaiting shipment. Transport with a cold pack.
      • Expedite transport; samples must be received by Bloodworks within 72 hours of collection. Allow for an additional day of transport from UW-MT to Bloodworks Northwest.
      • Submit a completed Bloodworks Northwest Eastlake Genomics Requisition along with the DLMP Requisition.* Leave the billing section blank to be completed by Sendouts staff.
        • *Use client-specific requisition when available. To obtain a client-specific requisition, contact Client Support Services via email at: commserv@uw.edu.
      • WA Center for Bleeding Disorders only: A separate Bloodworks NW requisition is not required for orders submitted via interface.

      Stability (Whole Blood): Refrigerated (preferred): 72 hours; Ambient: 48 hours; Frozen: Approved for WA Center for Bleeding Disorders (-20°C or -70/80°C). Avoid thawing/re-freezing.

      Quantity

      requested: 10 mL EDTA whole blood
      minimum: 6 mL EDTA whole blood

      Processing

      Result-at-Entry:

      • RDF8IS (Factor VIII Inversion DNA Sample Type): <Enter appropriate specimen type code.>
        • Specimen Type Code(s):
          • WB (Whole Blood)
          • CULAMN (Cultured Amniocytes)

      Processing:

      • Whole blood received at ambient temperature should be refrigerated. Ambient/refrigerated samples must be received at Bloodworks within 72 hours.*
      • Whole blood received frozen should be stored frozen and transported on dry ice. WA Center for Bleeding Disorders has pre-arranged with BWNW to send samples frozen for extended specimen stability.
      • If sample is collected on a Friday, notify Sendouts immediately upon sample receipt to ensure delivery to Bloodworks NW by the 1 p.m. cutoff.
      • Store cultured amniocytes at ambient temperature and ship same-day.

      Sendouts:

      • Order Bloodworks NW Test: 3250-05.
      • For orders not placed in Epic or via the ISEAWBD interface, a separate Bloodworks Northwest Eastlake Genomics requisition is required. Otherwise, send with a copy of the Epic requisition or ISEAWBD eREQ.
      • Affix CAST "Billing" and "Results To" labels to the outgoing requisition.
      • Package sample(s) with the associated requisition in a biohazard bag (one patient per bag). Orders received with multiple patient samples/requisitions in the same biozard bag will be rejected by Bloodworks NW.
      • Send blood orders as received with the UW DLMP or Delivery Express courier directly to the Bloodworks NW Eastlake location (do not route through BWNW Central Lab).
      • Cultured amniocytes must be sent same-day to the Bloodworks Central Genomics Lab (921 Terry Ave, Seattle WA 98104).
      • Samples may be sent Monday through Friday only. If sent on a Friday, samples must be in lab at the Eastlake location by 1 p.m.
      • Ambient or refrigerated whole blood samples must arrive at Bloodworks within 72 hours of collection.*

      Stability: Refrigerated (preferred): 72 hours; Ambient: 48 hours; Frozen: Approved for WA Center for Bleeding Disorders (-20°C or -70/80°C). Avoid thawing/re-freezing.

      Stability (Cultured Amniocytes): Ambient.

      *Contact the Bloodworks NW Eastlake Genomics Lab at 206-568-2184 for sample acceptability questions prior to cancelling orders outside of the stated stability window.

      Performance

      LIS Dept Code

      Sendouts (SO)

      Performing Location(s)

      Sendout Bloodworks Northwest Eastlake Genomics Laboratory
      206-568-2184

      1551 Eastlake Ave E
      Suite 100
      Seattle, WA 98102

      Also known as: Bloodworks Northwest Bleeding Disorders Laboratory

      Frequency

      Turn-around Time: 5-10 business days from sample receipt at Bloodworks Northwest.

      Available STAT?

      No

      Billing & Coding

      CPT codes

      81403

      LOINC

      18717-9

      Interfaced Order Code

      UOW5208