Family Variant Analysis Relative
General Information
- Lab Name
- Family Variant Analysis Relative
- Lab Code
- FAMVRE
- Epic Name
- Family Variant Analysis Relative
- Description
The Family Variant Classification test is designed for individuals who have a clinically identified variant of uncertain significance. The service is designed to assist individuals by using several strategies to find information about variants using family data. The service will identify the presence or absence of a specific genetic variants a patient’s family by next-generation sequencing. The relative must have a >10% chance of sharing the variant. There is no limit to the number of family members who can be tested by this service. The test covers hereditary cancer genes (APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FANCM, FH, FLCN, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53). Approximately 50% of the time, if sufficient data from the family is collected, the service finds enough information to provide reclassification of the variant.
The service is provided as follow-up of BROCA and ColoSeq testing at no additional charge.
- Synonyms
- FindMyVariant, variant classification, variant of uncertain clinical significance, variant of uncertain significance, variant reclassification, VUS, VUS classification, VUS reclassification
- Components
-
Code Name FAMVR Familial Variant Result FAMVIN Familial Variant Information FAMVCH Familial Variant History FAMVMT Familial Variant Method FAMVID Familial Variant FamID FAMVDI Familial Variant Director
Interpretation
- Reference Range
- See individual components
Ordering & Collection
- Specimen Type
- Blood (FAMVPT), Saliva (FAMVRE)
- Collection
-
10 mL whole blood in LAVENDER TOP EDTA tube.
Also acceptable: Oragene clinical saliva collection kit, YELLOT TOP ACD, and tissue (FFPE).
- Handling Instructions
Ship at room temperature overnight delivery.
OK to hold blood up to 7 days before shipping if refrigerated.
OK to hold saliva up to 14 days at room temperature before shipping and ship through standard mail.
- Quantity
-
Requested: Entire sample
Minimum: 5 mL whole blood, 1 mL saliva
Processing
- Receiving Instructions
- Misc Sendout
Performance
- Lab Department
- Genetics(GEN)
- Frequency
- Individual variant results available within 8 weeks after sample arrives in laboratory. Reclassification result turnaround time varies.
- Available STAT?
- No
- Performing Location(s)
-
UW-MT Genetics Attention: Genetics Lab
Clinical lab, Room NW220
University of Washington Medical Center
1959 NE Pacific Street
Seattle, WA 98195Tel: 206-598–6429 M–F (7:30 AM–4:00 PM)
Fax: 206-616-4584
Lab email: cgateam@uw.eduTel (EXOME only): 206-543-0459
Faculty
Jillian Buchan, PhD, FACMG
Runjun Kumar, MD, PhD
Regina Kwon, MD, MPH
Christina Lockwood, PhD, DABCC, DABMGG
Abbye McEwen, MD, PhD
Colin Pritchard, MD, PhD
Vera Paulson, MD, PhD
Eric Konnick, MD, MS
He Fang, PhD
Billing & Coding
- LOINC
- 26435-8