updated 5.23.14- ADF: BRCA 1/2 (No Panel) col1: col2: col3: col4: col5: col6: col7: col8: col9: col10: col11: |
updated 5.23.14- ADF: Company / Lab col1: Myriad Genetics- UT col2: Ambry Genetics-CA col3: GeneDX-MD col4: UW- WA col5: Quest col6: LabCorp col7: Invitae col8: Gene by Gene col9: Baylor col10: Counsyl col11: DNA Traits-TX |
updated 5.23.14- ADF: BRCA1/2 COMPLETE col1: $4,040 col2: $2,200 col3: $2,200 col4: $2,200 col5: $2,495 col6: $2,895 col7: $1,500 col8: $995 (seq only) col9: $1499 ($999 self-pay) (Counsyl) col10: $2,499 col11: $995 |
updated 5.23.14- ADF: del/dup alone col1: $700 col2: $500 col3: $1,000 col4: $1,000 col5: $500 col6: $700 col7: n/a col8: col9: col10: $399 col11: ?? |
updated 5.23.14- ADF: AJ3 col1: $575 col2: $500 col3: $450 col4: $550 col5: $500 col6: $600 col7: n/a col8: col9: col10: col11: $150 |
updated 5.23.14- ADF: SingleSite col1: $475 col2: $400 col3: $350/1 mut. or $500/2 mut. col4: $450 col5: $500 col6: $500 col7: $200 col8: col9: col10: col11: $70 |
updated 5.23.14- ADF: TAT col1: <2 weeks col2: 2 weeks col3: 8-10 days col4: 8-12wks col5: 2 weeks pre-auth + 2 weeks col6: 2 weeks pre-auth + 12-21 days col7: 2-3 weeks col8: col9: <2 weeks col10: col11: 3 weeks, will soon be reduced to 2 |
updated 5.23.14- ADF: Specimen Type(s) col1: Blood or saliva col2: Blood or Saliva col3: Blood. col4: Blood col5: Blood col6: Blood col7: Blood col8: col9: Blood col10: col11: Blood or saliva. Prefer buccal cell kits. |
updated 5.23.14- ADF: VUS Rate col1: 2-3% col2: 4.4% col3: col4: col5: col6: col7: 6% col8: col9: col10: col11: |
updated 5.23.14- ADF: Variant Program col1: Yes - Variant Classification Program. Variants reviewed daily. www.myriadpro.com/for-your-practice/myvision-2/ col2: Yes - Family Studies Program (free testing to informative relatives) col3: yes col4: Yes - Family Studies Program (free testing to informative relatives) col5: Website alludes to family testing, but no formal policy Partner with Informed DNA GCs to help with variant classification col6: unknown col7: Yes- Free testing to informative relatives col8: col9: Unknown. Testing done at Counsyl. Sanger confirmation not performed. col10: VUS classified using publically available databases and ACMG guidelines col11: Reports VUS rate of ~5% or less. |
updated 5.23.14- ADF: Financial Assistance? col1: yes. 24-mo interest-free payment plan col2: Yes. Also, 10% discount if paid in full. col3: Financial Assistance available. col4: 15% discount for self-pay in paid in total. No charity care. col5: yes col6: ?? col7: Yes col8: col9: col10: col11: Requires pre-payment, no insurance accepted |
updated 5.23.14- ADF: Preverification? col1: yes. Patients notified if out of pocket cost over $375. col2: Yes. Patients notified if out of pocket cost over $100. col3: Benefit Investigation is performed using in-network lab benefits and patients are notified if OOP is over $100 col4: Yes col5: yes col6: yes col7: yes col8: col9: yes col10: col11: Yes. Working on becoming an in-network provider. |
updated 5.23.14- ADF: Technology col1: Bidirectional sequencing with repeat analysis of clinically significant variants. Rearrangement analysis with either multiplex PCR or microarray CGH to determine copy number abnormalities. col2: Single gene sequencing for BRCA1/2 and panels listed below are performed using next-generation sequencing (NGS) and deletion/duplication (ie. large rearrangement) analyses is performed using MLPA or aCGH microarray. col3: Genomic DNA enriched for the complete coding region and splice site junctions of the 26 genes using ureSelect targeted capture. Sequenced on an Illumina MiSeq instrument with 2x150 paired-end reads. Capillary sequencing is used to confirm all potentially pathogenic variants identified by sequencing and to fill-in sequence for low coverage regions. Exon-level oligo array CGH is performed concurrently for all the genes in the panel. Confirmation of copy number changes is performed by MLPA, qPCR, or repeat aCGH analysis. col4: The assay completely sequences all exons and flanking introns of these genes AND detects large deletions, duplications, and mosaicism. col5: NGS with MLPA for del/dup col6: col7: col8: col9: NGS with del/dup col10: Uses "ultra deep" NGS for both sequence variants and large del/dup col11: Sanger-sequencing to sequencing the full genes plus ~50bp into the intronic regions to insure full coverage of the genes. Multiplexed ligation probe amplification (MLPA) for the large rearrangement testing. Actively working to continue iterating on our cost optimization and sequencing technologies, and we hope to be able to run the test with the Illumina HiSeq platform in the coming months, which will allow us to yet again significantly reduce the price. We absolutely have the highest quality sequencing data produced. |
updated 5.23.14- ADF: Sanger confirmation? col1: N/A col2: Yes col3: col4: col5: No, confirmation by another NGS method col6: col7: col8: col9: col10: No col11: |
updated 5.23.14- ADF: Analytical Sensitivity col1: >99.92 col2: >99% col3: >99% col4: >99% col5: >99% col6: unknown col7: >99% col8: col9: col10: col11: tbd |