Sequencing and analysis of human samples

Description of the ordering procedure for library preparation, sequencing and analysis of human samples.

There are 2 ways of placing the order:

• Directly through the Order portal, see instructions here
• Through an order form, see instructions here

If placing an order for several tumors to be analyzed with the same germline sample, start to place an order for one tumor + the germline sample, followingg the instructions below and then place an additional order for a new tumor sample using the germline sample as an already existing sample, through following the instructions in New analysis of already existing human samples.

Placing the order directly in the Order portal

Providing general information about the order

1. Name the order. If you want to link the new order to an existing ticket in SupportSystem, name the order #[ticket id]
2. Select Type of analysis from the dropdown list
   • Balsamic analysis (Sequencing/Existing data)
   • Balsamic and UMI analysis (Sequencing/Existing data)
   • MIP analysis (Sequencing/Existing data)
   • MIP RNA analysis (Sequencing/Existing data)

3. Select Delivery from the dropdown list

4. Select Customer from the dropdown list
5. Add an optional Comment for the order
6. Press Save

Providing information about the case/family

1. Press Add family
2. Name the case/family. Note! The case/family name needs to be unique from previous orders
3. Select Priority from the dropdown list (according to your contract or agreement)
4. For MIP analysis, select Gene panels from the dropdown list.
   • You can select one panel or several panels
   • If your gene panel is missing from the dropdown list, please contact us.

Providing information about the sample

1. Press Add sample, next to the name of the case/family
2. Fill in the sample information

3. Special considerations for the different analysis Types:
   • Balsamic analysis and Balsamic and UMI analysis
     • Elution buffer (choose from dropdown list)
     • Bait set (choose from dropdown list). If your bait set is missing from the dropdown list, please contact us.
     • A case can only contain one tumor sample and one germline sample or only one tumor sample. If there are several tumors to be analyzed with one common germline sample, the order needs to be divided into two different orders, see more details [here].

• MIP analysis
  • The sample names for Mother and Father can't be chosen for a child, until the parents have been added as individual samples to the family/case. As a mother only a female sample can be chosen and as father only a male sample can be chosen.

4. Add more families/samples if needed
5. Press Preview and submit the order

Placing the order through an order form

1. Download the order form here.
2. Fill in the order form according to instructions in the "information" tab in the orderform.
3. Submit your order form in the Order portal using the upload order form field.
4. Check in the Order portal that all information is correct i.e. there are no red markings for any of the samples.
   • For single corrections the easiest way to correct it is directly in the Order portal.
   • If there is a systematic error for several samples, edit the change in the orderform and upload it again.
5. Press Preview and submit the order.