Von Willebrand Disease Type 2A/2B/2M DNA, Exon 28 (Sendout)

General Information

Lab Name

Lab Code

RVWDT2

Epic Name

Von Willebrand Disease Type 2A/2B/2M DNA, Exon 28 (Sendout)

External Test Id

3250-08

Description

Test Information: Von Willebrand Disease (VWD) is one of the most common inherited bleeding disorders. This disorder is divided into three types, Type 1, Type 2 and Type 3. All types of this condition cause prolonged bleeding episodes of varying severity; Type 1 is the mildest of the three types and Type 3 is the most severe. Type 2 is intermediate in severity and is further divided into four subtypes. Type 2A VWD is the most common form of Type 2, accounting for 70% of the Type 2 diagnosis.

VWF exon 28 contains many of the variants that cause type 2A and type 2M VWD, and nearly all variants that cause type 2B VWD.

Variants in the von Willebrand Factor (VWF) gene cause VWD. This disease can have different inheritance patterns. Type 1, Type 1C, and Type 2 (2A, 2B, and 2M) are generally inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Type 3 and Type 2N are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have variants.

If a mutation is not identified, further screening can be performed by Von Willebrand Disease DNA Evaluation (Sendout) [RVWDEV]. Request "reflex to DNA von Willebrand Disease Evaluation (Test 3250-17)" on the Bloodworks requisition or via Epic order question. Confirmation is performed by sequencing exon 28 a separate DNA aliquot.

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

NHLBI Guidelines
Bloodworks Northwest Ordering Information: Bleeding Disorders
Bloodworks Northwest Test Information: DNA von Willebrand Disease Type 2A/2B/2M

Forms & Requisitions

Bloodworks Northwest Eastlake Genomics Lab Requisition

Synonyms

3250-08, Von Willebrand Disease, VWD Genotyping

Components

Code	Name
RVWDTS	VWD Type 2A, 2B, 2M DNA Sample Type
RVWDTR	VWD Type 2A, 2B, 2M DNA Result
RVWDTL	VWD Type 2A, 2B, 2M DNA Performing Lab

Interpretation

Method

Polymerase Chain Reaction (PCR) Based

Reference Range

See individual components

Ref. Range Notes

See report.

References

NHLBI Guidelines
Bloodworks Northwest Ordering Information: Bleeding Disorders
Bloodworks Northwest Test Information: DNA von Willebrand Disease Type 2A/2B/2M

Ordering & Collection

Specimen Type

Blood, Extracted DNA, Cultured Amniocytes

Collection

Whole Blood: 10 mL LAVENDER TOP EDTA tube

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

Amniotic fluid is not accepted.
An EDTA whole blood sample from the mother of the fetus must accompany cultured amniocyte orders.

Extracted DNA: >10 ug extracted DNA at a concentration of >25ng/ul

Collection Timing:

Collect any time Monday through Thursday.
Samples collected on a Friday must be timed appropriately to ensure delivery at Bloodworks Eastlake Lab by the 1 p.m. cutoff.

Samples sent on Fridays must be received at Bloodworks Northwest Genomics Lab by 1 p.m.

Forms & Requisitions

Bloodworks Northwest Eastlake Genomics Lab Requisition

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:

Store and transport whole blood at ambient temperature.
Expedite transport; samples must be received by Bloodworks NW within 72 hours of collection and before 1 p.m. on Fridays. Allow for one day of transport from UW-MT to Bloodworks Northwest.
- Unless the cells are cultured at UW-MT Cytogenetics and Genomics Lab, clients should arrange to send cultured amniocyte samples directly to Bloodworks NW due to the short stability window.
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): Ambient (preferred): 72 hours; Refrigerated: 72 hours; Frozen: -20°C or -70/80°C. Avoid thawing/re-freezing.

Frozen EDTA tube(s) are accepted if samples are frozen the day of the blood draw, never thawed, and are shipped and received on dry ice. Contact Eastlake Bleeding Disorders at (206) 568-2184 with questions about sample acceptability.

Quantity

Requested: 10 mL EDTA whole blood
Minimum: 3 mL EDTA whole blood

Processing

Receiving Instructions

Result-at-Entry:

RVWDTS (VWD Type 2A, 2B, 2M DNA Sample Type): <Specimen type will file automatically for orders placed in Epic. For others, enter the appropriate specimen type code.>

Specimen Type Codes:

ETC	Translation
WB	Whole Blood
CULAMN	Cultured Amniocytes
DNAEXT	Extracted DNA

Processing:

Maintain whole blood and cultured amniocyte samples at ambient temperature.
Whole blood received frozen should be stored frozen.
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.

Sendouts:

Order Bloodworks NW Test: 3250-08
Submit a copy of the ISEAWBD eREQ or Epic requisition with the sample (ensure that all pages are printed to accommodate the order questions). For orders not placed in Epic or via the ISEAWBD interface, a separate Bloodworks Northwest Eastlake Genomics requisition is required.
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.
Blood:
- Send blood orders as received with the UW DLMP or Delivery Express courier directly to the Bloodworks NW Eastlake location.
- Transport whole blood at ambient temperature. Whole blood received frozen should be stored frozen and transported on dry ice.
- 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.
Cultured amniocytes:
- Send cultured amniocytes same-day to the Bloodworks Central Genomics Lab (921 Terry Ave, Seattle WA 98104).
- Cultured amniocytes must arrive at Central Genomics within 48 hours of collection and by 1 p.m. on Fridays.

Stability (Whole Blood): Ambient (preferred): 72 hours; Refrigerated: 72 hours; Frozen: -20°C or -70/80°C. Avoid thawing/re-freezing.

Frozen EDTA tube(s) are accepted if samples are frozen the day of the blood draw, never thawed, and are shipped and received on dry ice. Contact Eastlake Bleeding Disorders at (206) 568-2184 with questions about sample acceptability.

Stability (Cultured Amniocytes): Samples must arrive within 48 hours to the Central Genomics location (amniocytes should not be sent to the Eastlake laboratory).

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.

Misc Sendout

Performance

Lab Department

Sendouts(SO)

Frequency

Turn around Time: 5-10 business days from sample receipt at Bloodworks Eastlake Genomics Lab.

Available STAT?

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

Billing & Coding

CPT Codes: 81403
LOINC: 18717-9
Interfaced Order Code: UOW5197