Request_form_NGS_PGM_MMC_eng

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MEDICAL UNIVERSITY – SOFIA

2 Zdrave St., 1431 Sofia, Bulgaria;

Tel: (+359) 2 9172 214; Fax: (+359) 2 9172 214 http://www.mmcbg.org

; mmcbg@abv.bg

Ion Torrent PGM Next Generation Sequencing Service

Sample Submission Form

I. APPLICANT INFORMATION

Name:__________________________________________________________________

Date of submission: _______________________________________

Organization:_____________________________________________________________

Department:______________________________________________________________

Invoice/project number:____________________________________________________

Address: _________________________________________________________________

Phone:

Email:__________________________

II. SAMPLE INFORMATION

Sample ID: ____________________________________________________

Sex: Male

Female

Sample (double stranded genomic DNA) origin:

Blood

Tissue

Other: ______

Sample condition :

Dissolved in water

Dissolved in TE Buffer

In pure ethanol

Dry powder

Other: ___________

Sample concentration in ng/ul

______________________

Total sample amount in ng:

_____________________________

We will provide reagents and consumables Yes

No

If yes, we need support in ordering reagents and consumables Yes

No

If no, we need you to order the reagents and consumables Yes

No

Please indicate clinical diagnosis, symptoms and family history:

______________________________________________________________

______________________________________________________________

______________________________________________________________

______________________________________________________________

Have any genetic tests already been performed? Yes

No

If yes, which? Results?

______________________________________________________________

______________________________________________________________

______________________________________________________________

______________________________________________________________

III. TEST REQUESTED

 Ion AmpliSeq™ Comprehensive Cancer Panel

(Oncology panel targeting exons within >400 oncogenes and tumor suppressor genes, at least 40 ng per DNA sample is needed)

 Ion AmpliSeq™ Inherited Disease Panel

(Broad inherited disease panel targeting exons of over 300 genes associated with over

700 inherited diseases including neuromuscular, cardiovascular, developmental, and

metabolic diseases, at least 30 ng per DNA sample is needed)

 Ion AmpliSeq™ Cancer Hotspot Panel v2

(Target "hot spot" regions, including ~2,800 COSMIC mutations of 50 oncogenes and tumor suppressor genes, with wide coverage of KRAS, BRAF, and EGFR genes/somatic mutations, at least 10 ng per DNA sample is needed)

 Ion AmpliSeq™ Colon and Lung Cancer Panel

(Contains primer pairs to analyze hotspot and targeted regions of 22 genes implicated in colon and lung cancers, at least 10 ng per DNA sample is needed)

 Ion AmpliSeq™ BRCA1 and BRCA2 Panel

(Contains primer pairs that target the coding regions of the tumor suppressor genes

BRCA1 and BRCA2, which have been implicated in hereditary breast and ovarian cancers, at least 30 ng per DNA sample is needed)

Bioinformatics analysis needed Yes

No

If no, what kind of raw data fails are requested?

FastQ file

BAM file

VCF file

Direct sequencing validation needed Yes

No

IV. SAMPLE REQUIREMENTS:

Tubes should be labelled with a unique ID and should be submitted with a typed sample information document.

It is recommended to use high quality non-degraded DNA (A

260

/A

280

>1,7) diluted in ddH

2

O.

Please provide the total amount of DNA supplied, the concentrations of DNA in ng/ul the method used and the analysis results measured by gel electrophoresis graph.

V. INVOICING INFORMATION

Person:_________________________________________________________________

Institute:_______________________________________________________________

Department:____________________________________________________________

Address:_______________________________________________________________

Invoice/project number:____________________________________________________

For more information required:

About the tests,

Help how to choose the right test for each separate case or type of project

To discuss the required reagents and consumables for the experiments,

To discuss budget issues, please contact

To schedule experiments in time

To discuss future project design

Terms and conditions of using the Genomics Core facilities

Please contact with:

Prof. R. Kaneva

Executive manager of MMC

email: kaneva@mmcbg.org

Daniela Dacheva,

Laboratory manager of MMC

email: dacheva@mmcbg.org

Chief Asist Prof. A. Mitkova, email: mitkova@mmcbg.org

Project manager of MMC

Genomics Core

Molecular Medicine Centre,

Medical University of Sofia

2 Zdrave St., 1431 Sofia, Bulgaria

Tel.: (+359) 2 9172 214 http://www.mmcbg.org

; mmcbg@abv.bg

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