Hemophilia B DNA Evaluation (Sendout)

General Information

Lab Name

Hemophilia B DNA Evaluation (Sendout)

Lab Code

RDHEMB

Epic Name

Hemophilia B DNA Evaluation (Sendout)

External Test Id

3250-10

Description

Test Information: Analysis of the Factor IX gene (Hemophilia B) is performed by direct sequence analysis of exons 1 – 8 and one common recurrent 3′ ut region genotype. The Genomics Testing Laboratory has had a high level of success in locating the mutation within these areas (Weinmann et al, BJ Haematol 100: 58, 1998).

    If the specific mutation cannot be identified, intragenic linkage is often useful to trace the affected allele through the family tree by following 4 polymorphic sites. Linkage studies also help identify the de novo origin of mutations in families with an isolated occurrence (eg maternal grandparents). Intragenic linkage may be useful in 80-90% of families where key family members (patient and both parents of potential carrier) are available.

      Additional Test Information: Sequencing is performed for exons 1-8 and the 3′ ut region. Confirmation is performed one of two ways. If the mutation creates/removes a restriction enzyme digestion site, the testing will be performed by RFLP. If a restriction enzyme digestion site is not present, testing will be done by sequencing the exon in which the mutation is located.

        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 Eastlake Genomics Lab Requisition

        References

        1. Factor IX Gene (F9) Variant Database
        2. CDC Hemophilia Mutation Project: CHAMP & CHBMP
        3. Bloodworks Northwest Ordering Information: Bleeding Disorders

        Synonyms

        3250-10, F9 Genotyping, HemB Genotyping, Hemophilia B

        Components

        Code Name
        RHEMBS Hemophilia B DNA Evaluation Sample Type
        RHEMBR Hemophilia B DNA Evaluation Result
        RHEMBL Hemophilia B DNA Evaluation 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:

        • RHEMBS (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: 3250-10.
        • 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 (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.

        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 Eastlake Genomics.

        Available STAT?

        No

        Billing & Coding

        CPT codes

        81238

        LOINC

        18717-9

        Interfaced Order Code

        UOW5204