GENE PANELS
SAMPLE SWITCH VARIANT PANEL (SSW)
Sample types
We aim to keep the list with sample types updated. However, if you believe we offer this gene panel on other sample types, or if you have a very specific sample type you'd like to evaluate : please contact the corresponding persons for either diagnostic or research purposes.
* Microtube can be a either a cryovial or eppendorf tube (0,5 ; 1,5 or 2 ml). Please consider the quality of the tube used (nuclease free ; free of RNA/DNA ; sterile ; LoBind) according to application needed.
DNA from various tissues > DNA
Microtube* or 96 well plate
See test details/specifications
Room temperature
Extra requirements
No additional requirements / recommendations
Optimum : [Range (-)]
There are no specific recommendations in addition to those listed under the Sample Types
Absorbance ratio A260/A230 - Minimum
DNA from various tissues
Optimum : [Range (-)]
The minimal A260/A230 is 1,5
Lower values are indicative for indicative for EDTA, carbohydrate, chaotropic salts (and also protein) contamination
Absorbance ratio A260/A230 - Optimal
DNA from various tissues
Optimum : 2 [Range (2,0-2,2)]
Absorbance ratio A260/A280 - Minimum
DNA from various tissues
Optimum : [Range (-)]
The minimal A260/A280 is 1,5
Lower values are indicative for indicative for protein, phenol or other aromatic compound contamination
Absorbance ratio A260/A280 - Optimal
DNA from various tissues
Optimum : 1,8 [Range (1,8-2,0)]
Deliverables
Below, you can find the type of data files that can be retrieved for this test.
If you require more information or need a more custom output, please consult our Bioinformatics page.
Called variants - vcf file
Text file containing all detected variants as compared to the relevant reference genome
Diagnostic / RUO
Raw data - bam file
Binary data file containing the aligned reads
RUO (on request)
Raw data - fastq file
Data file containing the raw (unaligned) reads
RUO (on request)
Research report
Research report generated by Clinical Geneticist/ Pathologist / Hematologist
RUO
Costs
For Diagnostic testing
When requested through your General Practitioner / Clinical Geneticist / Pathologist / Hematologist, costs will be covered through your health insurance. The costs involved will be those for your consultation and/or 'remgeld'.
For Research testing
Below, you can find indicative prices (excl. VAT) for all potential options you'd require to accomplish your project. If you are interested, please contact us to receive a tailored quotation.
Update pending
Our prices are being updated. More info soon.
Documents & certificates
141-TEST (BRIGHTcore)
Plan experiment
For Diagnostics
This test is mainly performed as a diagnostic assay. In this case, please contact your General Practitioner or Clinical Geneticist (Centre for Medical Genetics of choice) to get the diagnosis started.
For Research
This test can also be applied in context of research. For this, please get approval from your local ethical committee and/or make proper arrangements with your Biobank.
Please follow the steps below to start up an experiment with us.
Get in touch (ONLY FOR NEW PROJECTS)
Explain your project, so we can assist you to find the best solution.
Expect questions like :
What type of sample would you like to analyze?
Which elution buffer did you use?
What are the expected concentrations of your samples?
How many samples would you like to process?
How fast do you need the results (TAT) and/or do we need to expedite?
If you deviate from our sample types, are there test samples available?
Are our standard deliverables ok?
...
1
Request quotation
Once you know which experiment you want to set up, fill out the 'Quote request' form, with the essential details of your project :
Coordinates of the person to whom to address the quotation
Which type of test you'd like to set up
Do you require a specific deliverable?
Do we need to expedite (comes at extra cost)?
...
2
Submit your samples
Once you agree with our terms (quote / TAT / terms & conditions) :
Fill out our sample submission form
Send it via email : contact us
Print out the form and include it with your samples
Send your samples to us
Label your tubes/plates correctly : see details here
Adhere to the corresponding transport conditions listed under Sample types
Indicate if we can discard your samples after completion of project
3
Your experiment starts
Now it is up to us... We will start your experiment as soon as possible.
When expedited, the turn-around-time (TAT) is 1 month
For standard requests the turn-around-time (TAT) is 2 months
The standard TAT is generally overestimated, but this extended timeframe allows us to : combine similar requests of multiple scientists and to repeat the experiment in case of issues.
Please refrain from contacting us in case the pre-agreed TAT didn't expire yet.
4
Genelist
The following variants are interrogated (hg19):
chr1:144866643
chr1:179520506
chr2:227896976
chr4:5749904
chr5:82834630
chr5:140797630
chr6:146755140
chr8:68968166
chr8:94935937
chr10:45496120
chr11:16133413
chr12:993930
chr12:30823971
chr13:42772717
chr14:50769717
chr15:31229420
chr15:59347929
chr16:46773999
chr16:81249954
chr17:37884037
chr17:80377690
chr18:21413869
chr18:30092097
chr18:60562298
chr19:10267077
chr20:854940
chr21:31964916
chr21:34399401
chr22:21141300
chr22:49834747
chrX:49103224
chrX:135429503
chrX:153880830
chrY:14532067
chrY:21618583