updated 5.23.14- ADF: BRCA 1/2 (No Panel)
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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
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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%
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col7: 6%
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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:
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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
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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
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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