Glutaric aciduria type I

Required sample material

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

Molecular genetic prenatal diagnostics:
15-20 mg chorionic villus tissue or
15-20 ml amniotic fluid
In addition, blood or DNA from the pregnant woman (to exclude maternal contamination)

Sample dispatch

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

Material for prenatal diagnostics should be sent unrefrigerated by express mail. The sample transport time is of great importance, as cell cultures almost always have to be created. The test material should reach the laboratory within 24 hours.

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 and legibly with the patient's surname, first name and date of birth 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 form (where required) for the examination order.

Please complete the request forms carefully to avoid unnecessary enquiries and please understand that we cannot accept unlabelled 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

OMIM: 231670

Test method:
Mutation search in the GCDH gene using sequencing (11 exons) or detection of the mutation(s) known in the family and MLPA analysis to detect a deletion or duplication

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

Contact person