SHOX diagnostics*

Required sample material

Cytogenetic examination:
Heparin blood (adults 5-7 ml, children approx. 3-5 ml, newborns 1-2 ml)
NH4-Heparinate S-Monovettes (Sarstedt REF 01.1603) or disposable syringes with approx. 20 to max. 200 µl heparin sodium (5000 I.U./ml) (final concentration 10 to max. 100 I.U. heparin/ml sample material). Please do not send Li heparin or EDTA blood!

Molecular cytogenetic analysis:
Heparin blood (adults 5-7 ml, children approx. 3-5 ml, newborns 1-2 ml)
NH4-Heparinate S monovettes (Sarstedt REF 01.1603) or disposable syringes with approx. 20 to max. 200 µl heparin sodium (5000 I.U./ml) (final concentration 10 to max. 100 I.U. heparin/ml sample material). Please do not send Li heparin or EDTA blood!

Alternatively: cell suspension with high mitotic index in methanol/glacial acetic acid.

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

Sample dispatch

Material for cytogenetic and molecular cytogenetic analyses 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.

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

depending on the test requested:

Laboratory for Molecular Genetic Diagnostics/
Laboratory for Molecular Cytogenetics/
Laboratory for Cytogenetic 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 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 cytogenetics and FISH diagnostics

Request form for molecular genetics (German) (English)

Further information

OMIM: 127300, 249700, 312865

Test method:
Detection of a deletion with FISH (molecular cytogenetic) or MLPA (molecular genetic). If inconclusive, a point mutation search (molecular genetic) can be performed in the SHOX gene (5 coding exons).

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

Contact persons

* non-accredited examination systems