Factor VIII Inversion DNA (Sendout)

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.

Whole Blood: 10 mL LAVENDER TOP EDTA tube

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

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.

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.