Request_form_NGS_MiSeq_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
Illumina MiSeq 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: ____________________________________________________
Male 
Sex:
Female 
Sample (double stranded genomic DNA) origin:
 Blood
 Tissue
 Other: ______
 Dissolved in TE Buffer
 Other: ___________
 In pure ethanol
Sample condition:
 Dissolved in water
 Dry powder
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
 Illumina TruSight One Sequencing Panel
(Targeting 4,813 genes associated with human diseases)
 Illumina TruSight Inherited Diseases Sequencing Panel
(Targeting 552 genetic regions known to contain pathogenic mutations in severe,
recessive, pediatric-onset diseases)
 Illumina TruSight Cancer Sequencing Panel
(Targeting 94 genes suspected to play a role in predisposing to various cancers and 284
SNPs suspected to be associated with cancer through genome-wide association studies)
 Illumina TruSeq Cancer Sequencing Panel
(Targeting 48 cancer hotspot mutations in selected genes/somatic mutations)
Yes 
Bioinformatics analysis needed
No 
If no, what kind of raw data fails are requested?
 FastQ file
 BAM file
Direct sequencing validation needed
 VCF file
Yes 
No 
IV. SAMPLE REQUIREMENTS:
Tubes should be labelled with a unique ID and should be submitted with a typed sample
information document.
Input DNA required for each Illumina TruSight Sequencing Panel is 50ng (preferred
10ng/ul), quantified by a Qubit or qPCR.
Input DNA required for Illumina TruSeq Sequencing Panel is 250ng (preferred 50ng/ul),
quantified by a Qubit or qPCR.
It is recommended to use high quality non-degraded DNA (A260/A280>1,7) diluted in
ddH2O.
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:
Dr K. Kamenarova
email: kkamenarova@mmcbg.org
Daniela Dacheva,
Laboratory manager of MMC
email: dacheva@mmcbg.org
Chief Asist Prof. A. Mitkova,
Project manager of MMC
email: mitkova@mmcbg.org
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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