open frame sequencing™

Innovators in Reproductive Genetics!

Open Frame Sequencing™

Personalized genetic platform


Open Frame Sequencing™Open Frame Sequencing™ is a set of tests allowing comprehensive selection of genetic diagnostics personalized for each Patient.

Flexibilty - 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


Open Frame Sequencing™Openness - 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 Sequencing™

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.


1. Specify indications for diagnostics, e.g. a genetic disease suspected based on phenotypic traits

2. Find genes that may be responsible for the observedsymptoms, e.g. at www.omim.org(or in any other available genes database)

3. Select genes you want to test4. Check availability of the test at www.invictagenetics.pl/geny using Open Frame

gene browser5. Order the test/s from saliva for the Patient6. Check the result of the test and continue treatment

How to use Open Frame Sequencing™?


Open Frame Sequencing™ 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 Sequencing™ 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.

What is Open Frame Sequencing™?


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

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


• 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

When to use Open Frame Sequencing™?


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

What next?


• Open Frame™ gene browser • Specialist Collection Kit • Free transport • Online access to the results

INVICTA Genetic Laboratory provides:


Tests offered within the Open Frame platform


Tests offered within the Open Frame platform cont.


Cooperation procedure


Cooperation procedure cont.


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.

NGS methodology


Next Generation Sequencing

First in Poland Open Frame Sequencing™ diagnostics using NGS (Next Generation Sequencing).

INVICTA Genetic Laboratory, November 2015

Currently the advanced technique available that ensures exceptionally precise, reliable and comprehensive result. Its application allows identification of the even smallest changes in the human genome.


Literature1. Chandra Shekhar Pareek, Rafal Smoczynski, and Andrzej Tretyn. Sequencing technologies and genome sequencing. Appl Genet.

2011 Nov; 52(4): 413–435. Eur J Obstet Gynecol Reprod Biol. 2014 Nov;182:252-3. doi: 10.1016/j. ejogrb.2014.09.034. Epub 2014 Sep 28.

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 large-scale 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.


Literature cont.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.


INVICTA GENETICS Trzy Lipy 3, Gdansk 80-172 , PolandT. +48 58 58 58 804M. [email protected]. invictagenetics.com

About INVICTA GENETICSINVICTA is an experienced genetics laboratory (since 2000)

offering wide range PGD / PGS tests using state of art Next Generation Sequencing (NGS) techniques.

open frame sequencing™

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