Whole Exome Sequencing (WES) – index - Amsterdam UMC Genome Diagnostics

"*" indicates required fields

Note
Due to European legislation, all typed information of your patient will be erased when placing the order.
A secured email with the patients information will be sent to Amsterdam UMC Genome Diagnostics.

Patient information

Is this an application for a patient insured in the Netherlands?*

Yes

Are you going to use a patient sticker after printing the application form?*

Yes

Your reference

E.g. patient number own administration

Patient name*

Date of birth*

Gender*

Male

Female

Social Security Number*

Is the patient deceased?*

Yes

Concerns fetus*

Yes

Date of death*

Postpartum date*

Gestational age*

Declaration on another person*

Yes

Street*

House number*

Postcode / ZIP*

Place*

Country*

Phone

Insurance*

Insurance number*

Family doctor

Address details family doctor

Declaration on another person

Name*

Date of birth*

Gender*

Male

Female

Social Security Number*

Insurance*

Insurance number*

Relation to patient*

Your reference

E.g. patient number own administration

Information Ordering Physician

AGB Code

AGB Code (for Dutch specialists only), see: AGB-code register

Name*

First name Last name

Institution / Hospital*

Department

Medical specialty*

Street

House number

Postcode / ZIP

Place

Country*

Email address*

Phone

Signal / Device

Additional reporting address

Yes

Email test results cc to

Name	Institution / Location	Medical specialty	E-mail address	Phone	Signal / Device	Actions

There are no Specialists.

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Test application

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Test 1

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SKU 1

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Indicatie 1

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Code 1

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Addon 1

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Test 2

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SKU 2

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Test 3

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SKU 3

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Indicatie 3

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Test 4

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SKU 4

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Test 5

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Sample material details

Clearly indicate name, date of birth and gender on all blood tubes.

Sample type*

Child: 2x 3ml EDTA (anticoagulated) blood

Adult: 2x 6-7 ml EDTA (anticoagulated) blood

Date collected

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Family

Single patient analysis*

Yes

Materiaal familieleden

Name	Gender	Date of birth	Relation to index	Affected	Actions

There are no Involved persons.

Consanguinity in the family?*

Yes

Should a gene package be analysed (first)?*

No, whole exome

First the intellectual disability gene package, then the whole exome

Intellectual disability gene package only

Indication*

Indication: other

Indicate other indication

What further agreements have been made regarding the analysis? (for example: filter on ROH areas, candidate genes first, etc)

Note

Open WES analysis is only possible with unaffected parents (trio analysis). Signed consent is required for this and this analysis can only be requested by a clinical geneticist.
In principle, analysis of large packages such as ID package (larger than 1200 genes) can only be done with parents (trio analysis). In exceptional cases (adoption, parent(s) deceased) an analysis of the patient can only be requested (single case). In case one of the parents is available, we prefer to bring this parent with you.
With a single case, only a (limited) package can be requested. A number of packages are available that can be requested separately (see application form via dnadiagnostics.amc.nl). A custom package can also be requested. For this custom package, the applicant must supply a gene list and/or specific HPO terms. With a custom package for a single case, a maximum of 250 genes applies.
For a family with several affected persons, there are also several options for a WES-based analysis (package or open WES). Please contact the laboratory for this.
In the analysis of NGS data (gene panels, exome, genome) there is a chance that a (probably) pathogenic variant will be found that is related to a different disease than that for which the patient is being examined. In this case one speaks of an incidental finding. It is the responsibility of the applicant to discuss the risk of incidental findings and the policy regarding reporting incidental findings with the patient. See also the information for referrers on the VKGN website (https://artsengenetica.nl/ info/various-genetic-tests-extended) and the national policy for reporting incidental findings (https://www.vkgl.nl/nl/diagnostics/guidelines-vkgl)

Clinical information index

Length*

< -2SD

-2SD tot +2SD

> +2SD

Skull size*

< -2SD

-2SD tot +2SD

> +2SD

Weight*

< -2SD

-2SD tot +2SD

> +2SD

Dysmorphism*

Dysmorphism text

Indicate all relevant clinical data.

Other text

Indicate the reason for this test application

Clinical information other family members (if relevant)

Clinical picture other family members text

Indicate all relevant clinical data

Consent

The laboratory uses residual material for further research, in line with the original diagnostic question. Residual material can also be used to develop new techniques and quality controls and to improve existing techniques. This is in accordance with applicable laws and regulations. We assume that the patient has been informed about this.

The patient or his legal representative objects to further use of the submitted body material.

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Lab location

To which laboratory will the sample material be sent?

Location AMC

Location VUmc

Comments

This field is for validation purposes and should be left unchanged.