Genotype for known Hemophilia / VWD mutation
| Also Known as (Alias) | Hemophilia/VWD Family Testing, Hemophilia/VWD Carrier Testing |
| Test Information | If a variant is known in a family with hemophilia/VWD, a family member can have targeted testing for that specific variant. This is useful for diagnosis of all at-risk family members (male or female) and to assist in reproductive planning, prenatal genetics, genetic counseling, and neonatal testing. |
| Additional Test Information | Targeted testing is performed by Sanger sequencing the exon in which the variant is located, PCR for F8 intron 1 and 22 inversions or by MLPA depending on the variant. |
| Sample Requirements | EDTA (lavender top) or extracted DNA |
| Requested Volume | 3-10cc EDTA (lavender top) tube or >10 ug extracted DNA at a concentration of >25ng/ul.
Analysis of amniocytes can be performed on cultured amniocytes. Two T-25 flasks of cells cultured to confluency will be accepted. Bloodworks Northwest does not have facilities to culture amniocytes. |
| Shipping Information | Whole blood shipped at ambient temperature (or on dry ice) and should arrive in the lab within 48 hours of the blood draw.
Send whole blood samples to: Cultured amniocyte samples shipped at ambient temperature and should arrive in the lab within 48 hours and received Tuesday through Thursday. Send cultured amniocyte samples to: Do not send samples to arrive on weekends or federal holidays or after 1pm on Fridays For additional information, please see Ordering Information-Bleeding Disorders |
| Requisition Form | Request for Testing Eastlake Bleeding Disorders Laboratory |
| Transaction Code | 3250-11 |
| CPT Codes | 81403/81407/81405/81408 |
| Turn around Time (analytic time) | 5-10 business days. If Multiplex Ligation-dependent Probe Amplification (MLPA) testing is necessary, it may take up to a couple of months. |
| Report/Results | Reports will be faxed or emailed. |
