info@invictagenetics.com

+48 696 059 658

Open Frame™
The Personalized Carrier Screening Test

What is Open Frame™?

Open Frame™ is a universal tool that allows planning comprehensive genetic diagnostics personalized for each Patient. This solution is dedicated to specialists who expect flexible approach, efficient cooperation and “tailor made” solutions in their daily work. It is based on the state-of-the-art Next Generation Sequencing (NGS) technique which is currently considered the reference method for all other DNA analysis techniques.

The Open Frame™ approach allows identification of over 163,000 of all known and described mutations, examination of 15,189 known genes and 331,130 of all exons in the human genome.

Flexibility

Individual determination of the test type, i.e.

  • germinal mutation - one or more at the same time
  • exon - one or more at the same time
  • whole gene - one or more at the same time

Request Open Frame™ Kit
Openness

Figure 1. Individual determination of the test scope: selection from over 15,189 genes, over 163,000 mutations or 331,130 exons. The laboratory’s offer includes:

Open Frame™
gene browser

Read more
Personalization

Opportunity to precisely match the diagnostics to the individual Patient’s needs and to optimize costs. The price is based solely for the selected tests.

Why choose Open Frame™?
INVICTA Genetic Laboratory provides comprehensive solutions for clinical geneticists who look for a reliable partner in genetic diagnosis.

Our offer includes primarily:

  • Full spectrum of individually planned genetic tests
  • Possibility to create a unique gene panel based on the needs of a specified Patient
  • Innovative diagnostic techniques, with scientifically confirmed reliability
  • Comfort of work and time savings thanks to efficient remote service and logistic solutions
  • Optimization of Patient costs – charges only for the needed indicated tests
  • Convenient online access to test results

   
Table 1. Tests offered within the Open Frame™ platform

SpecificationSequencing
of 2-5 genes		Sequencing
of 1 gene		SNP genotyping.
Short fragment sequencing
What do we test?Whole gene sequencingWhole gene sequencing• Mutations sequencing
• Exon /other gene fragment sequencing
CriteriaDetails at www.invictagenetics.com/genesDetails at www.invictagenetics.com/genes• Single-nucleotide substitutions, e.g. SNP (single nucleotide polymorphism)
• Deletions up to 20 nucleotides
• Insertions up to 20 nucleotides
• All fragments of DNA sequence with the length of <300 pz
Check the exon length at www.invictagenetics.com/genes
ApplicationAllows identification of changes in the coding sequence of 2-5 of 15,189 genesAllows identification of changes in the coding sequence of one of 15,189 genesAllows identification of over 163,000 mutations
Allows analysis of over 331,130 exons
TechniqueNGSNGS / SangerSanger
Reading200x200x / 2x2x
Materialsaliva / bloodsaliva / bloodsaliva / blood
Durationup to 12 weeksup to 12 weeksup to 30 days
When to use Open Frame™?

  • Confirmation of the genetic background of a clinically diagnosed disease
  • Targeted search for pathogenic mutations present in relatives - analysis of co-segregation in the family
  • Tests of various genes in the field of molecular background of the clinical diagnosis made in the proband with the diagnosis of a single-gene disease - individual panel
  • Selection of appropriate clinical course of action in the family with high genetic risk

What next?

If the genetic change is identified, the following actions are recommended:

  • Genetic consultation
  • Precise selection of further diagnostics and therapy
  • Preimplantation diagnosis, in case of family planning

INVICTA Genetic Laboratory provides:
  • Open Frame™ gene browser
  • Specialist Collection Kit
  • Free transport
  • Online access to the results

   
Cooperation procedure
Limitations

The depth of sequencing guaranteed in the test allows to detect germinal variants. The test has not been validated for the detection of somatic variants. Not all genome regions can be sequenced effectively. In cases where the indicated area coverage cannot be obtained with the use of NGS sequencing, the laboratory will try to supplement the missing fragments using Sanger technique. The range of the tested sequence will be provided in the test result. Sequencing is not effective or the reliability of the result of sequencing may be low in the following situations (this is not the exhaustive list): changes in the mitochondrial genome, pseudogenes and other sequences homologous for the tested region, repeated sequences, dynamic mutations, large rearrangements, copy-number variations (CNV), fusion genes, uniparental disomy, epigenetic changes, mosaicism. It is recommend to consult the scope of sequencing with a geneticist.

Bibliography

  • 1. Chandra Shekhar Pareek, Rafal Smoczynski, and Andrzej Tretyn. Sequencing technologies and genome sequencing. Appl Genet. 2011 Nov; 52(4): 413–435.
  • 2. Buermans HP, den Dunnen JT. Next generation sequencing technology: Advances and applications. Biochim Biophys Acta. 2014 Oct;1842(10):1932- 1941.
  • 3. Tang W1, Qian D, Ahmad S, Mattox D, Todd NW, Han H, Huang S, Li Y, Wang Y, Li H, Lin X. A low-cost exon capture method suitable for largescale screening of genetic deafness by the massively-parallel sequencing approach. Genet Test Mol Biomarkers. 2012 Jun;16(6):536-42.
  • 4. Muzzey D, Evans EA, Lieber C. Understanding the Basics of NGS: From Mechanism to Variant Calling. Curr Genet Med Rep. 2015;3(4):158-165.
  • 5. Rothberg JM, Hinz W, Rearick TM, Schultz J, Mileski W, Davey M, Leamon JH, Johnson K, Milgrew MJ, Edwards M, Hoon J, Simons JF, Marran D, Myers JW, Davidson JF, Branting A, Nobile JR, Puc BP, Light D, Clark TA, Huber M, Branciforte JT, Stoner IB, Cawley SE, Lyons M, Fu Y, Homer N, Sedova M, Miao X, Reed B, Sabina J, Feierstein E, Schorn M, Alanjary M, Dimalanta E, Dressman D, Kasinskas R, Sokolsky T, Fidanza JA, Namsaraev E, McKernan KJ, Williams A, Roth GT, Bustillo J. An integrated semiconductor device enabling non-optical genome sequencing. Nature. 2011 Jul 20;475(7356):348-52.
  • 6. Lin X, Tang W, Ahmad S, Lu J, Colby CC, Zhu J, Yu Q. Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities. Hear Res. 2012 Jun;288(1- 2):67-76.
  • 7. Nigro V, Piluso G. Next generation sequencing (NGS) strategies for the genetic testing of myopathies. Acta Myol. 2012 Dec;31(3):196-200.
  • 8. McDermott U. Next-generation sequencing and empowering personalised cancer medicine. Drug Discov Today. 2015 Dec;20(12):1470-5.
  • 9. Weerakkody RA, Vandrovcova J, Kanonidou C, Mueller M, Gampawar P, Ibrahim Y, Norsworthy P, Biggs J, Abdullah A, Ross D, Black HA, Ferguson D, Cheshire NJ, Kazkaz H, Grahame R, Ghali N, Vandersteen A, Pope FM, Aitman TJ. Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome. Genet Med. 2016 Mar 24.
  • 10. Merriman B; Ion Torrent R&D Team, Rothberg JM. Progress in ion torrent semiconductor chip based sequencing. Electrophoresis. 2012 Dec;33(23):3397-417.

Documents
Open Frame Sequencing™. Personalized genetic platform