Taking Samples

The DNA required for molecular genetic analysis, as well as the chromosomes required for cytogenetic and molecular cytogenetic analysis, is extracted from cells containing nuclei.

The following tissues are used:

1.       EDTA blood for molecular genetic and Array-CGH diagnositics

2.       Heparin blood for cytogenetic and FISH tests

3.       Amniotic fluid

4.       Chorionic and placenta villi

5.       Umbilical cord blood

6.       Abort tissue

7.       Tumour tissue (e.g. for micro-satellite analysis)

8.       Other tissue (e.g. skin, intestinal mucosa, muscle), if genetic mutations are found 

          only in these organs (please confer by telephone)

9.       Swab of oral mucosa (e.g. from small children, where only small amounts of DNA

          are required and no blood is available)

The tissues listed above should be acquired in the following way: 1 through 5: sterile; 6 through 8: as sterile as possible; 9: after clearing the mouth cavity of any food particles.

For genetic analysis of blood samples, the following vacutainers or monovettes are required:

• 1 tube heparin blood (Lithium-, Sodium- or Ammonium-Heparin) for all postnatal chromosome analyses and all Fluorescence-in situ-Hybridisation (FISH tests).

• 1 or 2 tubes EDTA blood for all molecular genetic and Array-CGH diagnostics
• Please do not send whole blood, serum, or citrate blood.

Note regarding muscle biopsies: We recommend that you send muscle biopsies on dry ice with an express courier. Please notify us at least one day in advance by calling +49 (0)89 / 309 08 86-0 or +49 (0)89 / 309 08 86-555. Thank you!

All materials required for collecting and transporting samples, including the appropriate vacutainers/monovettes can be ordered by contacting us (by telephone, E-mail or Fax; see Downloads/Forms).

Labelling Samples

Please be sure to label every sample with the patient's first and last name and date of birth.

Payment, cover letters and request forms

If you would like to receive an expert human genetic report, please indicate this on the request form.
For privately insured or in-patients we require the corresponding information. Please indicate who should receive the bill.

Please include your telephone and fax numbers in your accompanying letter or on our request form, in order that we may contact you with follow-up questions and test results.

The receipt of samples sent to us for an analysis that requires more than 1 week to complete will be confirmed via fax.

Clinical data, previous lab or genetic tests and, where appropriate, information pertaining to a patient's family tree are especially important for the interpretation of our test results.

For genetic testing, please include the patient's written consent or, in the case of children, parental consent (see Forms).

Should you have any questions, or would like to order sample containers, vacutainers/monovettes or shipping materials, you can reach us by calling +49 (0)89 / 309 08 86-0.

Sample transport

Samples may be sent by post or by courier. Please call us if you would like to make use of a courier service. Samples may also be delivered personally between 9 AM and 6 PM.

Before sending prenatal or other urgent sample, we ask that you notify is by calling 49 (0)89 / 309 08 86-0 or +49 (0)89 / 309 08 86-554.

Samples for genetic analysis should be handed over to a courier or posted as soon as possible. It is not necessary to cool or refrigerate samples; samples should on no account be frozen (with the exception of muscle biopsies).

Sample asservation

After the completion of molecular genetic diagnostics, all remaining unused DNA will be stored on location for a period of more than 15 years and is thus available for future testing.

Please be sure to indicate if preservation of the largest possible amount of DNA is required (e.g., in cases of unexplained illness, or where a child's health is threatened by an illness of potentially genetic origin, or when there is need to assess the risk to siblings and their children).

Should you have any questions, please call us +49 (0)89 / 309 08 86-0.