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 | Samples must arrive at Bloodworks within 72 hours after collection shipped preferably with a “cool pack”. If sample was frozen the day of draw, please ship on dry ice.
Send samples to: Cultured amniocyte samples shipped at ambient temperature and should arrive in the lab within 48 hours and received Tuesday through Thursday. 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. |
