Amyloidosis (hereditary)

Sample material required

Molecular genetic analysis: 3-7 ml EDTA blood, for small children a smaller amount of blood (1-3 ml) is usually sufficient
or extracted DNA

Sample dispatch

EDTA blood samples or extracted DNA can be sent unrefrigerated by normal overnight post.

Please send the samples to the following address:

Heidelberg University Hospital
Institute of Human Genetics
Laboratory for Molecular Genetic Diagnostics
Im Neuenheimer Feld 366
69120 Heidelberg

Sample labelling

Please label each sample container clearly with the surname, first name and date of birth of the patient and use our request forms.

The request forms are structured in such a way that we have all the necessary information about the patient and the patient consent (where required) for the test order.

Please complete the request forms carefully to avoid unnecessary enquiries and please understand that we cannot accept unlabelled or incorrectly labelled sample containers.

Please bear in mind that we can only carry out genetic analyses if we have the patient's written consent!

Request form for molecular genetics (German) (English)

Further information

We offer diagnostics for the following genes to clarify hereditary amyloidosis:

• Transthyretin (TTR) OMIM: 176300

• Apolipoprotein A-I (APOA1) OMIM: 107680

• Fibrinogen-alpha (FGA) OMIM: 134820

Test method:
Mutation search in the TTR gene(4 coding exons), in the APOA1 gene(3 coding exons) and in the FGA gene(a section of exon 5) by sequencing or detection of the mutation known in the family.

Note:
All three genes can be sequenced, but only individual genes can be sequenced on request. Please tick the desired genes on our request form.

Processing time:
On average 1-2 weeks. In rare cases, the processing time may be delayed by approx. 2 weeks.

Contact person