Short stature (idiopathic)

Required sample material

heparinised whole blood from lymphocytes
(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!

from fibroblasts (skin, etc.)
Skin punches with an edge length of approx. 3 mm (reaching to the basement membrane) in sterile physiological saline solution.

Buccal mucosa
only after consultation.

Sample dispatch

The material should be sent uncooled by express mail. The sample transport time is of great importance in cytogenetics, as cell cultures have to be created here. All samples should therefore arrive in our laboratory the day after collection.

Please send the samples to the following address:

Heidelberg University Hospital
Institute of Human Genetics
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

Further information

Test method:
Cytogenetic and molecular cytogenetic analyses

Sensible procedure:
First of all, the presence of a chromosomal aberration (e.g. Ullrich Turner syndrome) should be ruled out by classical karyotyping.
If the karyotype is normal, FISH diagnostics can be performed to clarify a possible SHOX deletion.
SHOX diagnostics can also be offered in cases of suspected Leri-Weill syndrome, idiopathic short stature or suspected further Xp deletions.

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

Contact person