Frequently Asked Questions

Testing strategy

I am not sure about the best testing strategy for my patient - will you help me decide what test(s) to request?

Absolutely! Feel free to send an email with clinical details of your patient to inquiry@mgz-muenchen.com and you’ll get a response from a genetic counselor or clinical geneticist who will discuss the case with you and help develop a testing strategy.

Can I also send samples of the parents or other family members for testing? How much does it cost?

For our multi-gene panels, we welcome samples from family members as this sometimes can help with interpretation of results. Cost information can be provided when you request a cost statement.

Diagnostics

What next-generation sequencing (NGS) methods do you use?

Enrichment of specific genomic regions with Agilent SureSelectTM or Illumina TruSightTM kits is followed by parallel paired end sequencing on the MiSeq or NextSeq500 IlluminaR analyzer. All coding exons as well as exon/introl boundaries (+/- 5 base pairs (bp)) are tested for point mutations and small insertions/deletions (to approx. 50 bp).

What is the quality, coverage, and sequence depth for your NGS multi-gene panels?

Our next-generation sequencing(NGS) analyses must meet the following quality criteria:

  • An average sequence quality (Phred or Q score) of over 30 per sequence cycle, which corresponds to a detection accuracy of 99.9%.
  • Sequence coverage of >30x in at least 98% of all analyzed regions. No definitive statement can be made regarding regions with coverage of fewer sequences per base pair. Note: we require sequence coverage of >30x in 100% of all analyzed regions to be achieved for NGS of the following genes: BRCA1, BRCA2, DMD, MLH1, MSH2, MSH6, PMS2.

Do you confirm variants detected via NGS with other analysis methods?

We have very high standards for our sequencing data which means that confirmation of variants with another method is often not necessary. If a pathogenic or likely pathogenic mutation is found in a position with a sequence quality (Phred or Q score) less than 30 and coverage less than 20x, we perform Sanger sequencing to confirm it. Additionally, if a pathogenic or likely pathogenic mutation is found in a region with known misleading pseudogenes, then long range PCR and Sanger sequencing are used to confirm.

Is deletion/duplication analysis part of your single-gene analyses?

Many, but not all, of our single-gene analyses involve deletion/duplication analysis. On the webpage about each gene, you can see what methods are involved in analysis.

Is deletion/duplication analysis part of your multi-gene panels?

At this time we do not have full deletion/duplication analysis included in all of our multi-gene panels, however we do plan to include it in the future. For now we include deletion/duplication analysis along with NGS of the following genes: BRCA1, BRCA2, DMD, MLH1, MSH2, MSH6, PMS2.

If no mutation in found via NGS, we may recommend deletion/duplication analysis and offer to perform it on the sample we already have if there is enough material.

What deletion/duplication analysis methods do you use?

For analysis of single genes, we use multiplex ligation-dependent probe amplification (MLPA). Our cytogenetics lab also offers chromosomal microarray analysis (CMA); find more information here.

After my initial molecular genetic test request, can I request analysis of further genes be done on the original sample?

Provided we have enough material left, we can perform further analyses on the original sample. The results report may include recommendations for further testing, especially if you have provided detailed clinical information.

If there are negative or uncertain results from a multi-gene panel, can I then request analysis of additional genes on different panel – like an upgrade?

Certainly. If you would like to upgrade to the “Comprehensive Diagnostics” panel in the category you are testing in (for example if you got a negative result for the “Cardiomyopathy, Dilated” panel and you wish to upgrade to the “Cardiomyopathies – Comprehensive Diagnostics” panel, or if you got a negative result for the “Ovarian Cancer” panel and you wish to upgrade to the “Hereditary Cancer Syndromes” panel), you are required only to pay the difference in cost between the two panels. If you are interested in price information for a specific case, send us an email at inquiry@mgz-muenchen.com.

How do you interpret sequence variants detected in your molecular genetic tests?

Do you review unclassified sequence variants periodically? Will you notify me of any updated literature regarding my unclassified sequence variants?

If you would like to request a review of a variant from one of our reports, contact us at inquiry@mgz-muenchen.com.

Sample Requirements & Shipping

What are your sample requirements?

Sample requirements differ depending on the test being requested. For full details, please see our sample requirements and shipping.

What do I need to send along with my sample?

Please package your sample along with the completed Test Request Form and either a print-out of the cost statement you received from inquiry@mgz-muenchen.com or a note regarding the pricing arrangements you have already made with MGZ.

Where should I ship my sample?

Our mailing address is:

MGZ – Medical Genetics Center
Bayerstr. 3-5
Entrance: Schlosserstr. 6
80335 Munich
Germany

Will MGZ pay for my shipping?

MGZ cannot cover costs of international shipping at this time. Please check back with us soon, as we are working to change this.

How do I know when you have received my sample?

We will send you an email confirmation of sample receipt once our sample intake department has entered your sample into our system.

Reports

What is the turnaround time for each test?

In most cases, the turnaround time for our single gene analyses is approximately 3-6 weeks. The turnaround time for our multi-gene panels is approximately 2-3 months. On the webpage describing each test you will find information about turnaround time in the info box.

We have recently introduced analysis of BRCA1 and BRCA2 via NGS and MLPA with a turnaround time of 2 weeks.

There is an urgent situation and I need to receive the test results as soon as possible – can you rush a test?

We do offer faster turnaround times for urgent situations, such as prenatal testing. If you ave an urgent situation, please make sure to include this information when you contact us to inquire about cost so that we can discuss the situation and make appropriate arrangements.

What do your reports include? Can I see an example?

Our reports include the original indication for testing, details of our methods and results, an interpretation taking into account all available information about the gene/variant/types of described mutations, and general information about the relevant gene or disorder. Click here to download sample reports for a variety of tests.

Can you email me my report?

Yes! We are able to send reports as PDFs by email, or by fax or post. On the Test Request Form, just indicate how you would like the report sent. If you want to add a mode of delivery after you have already sent the Test Request Form, email inquiry@mgz-muenchen.com to let us know.

Costs

What are the prices for your tests?

Prices for all of our tests are available upon request. Either fill out the form here or email inquiry@mgz-muenchen.com to request a cost statement.

If my institution sends many samples to MGZ for testing, can we receive a discount?

We are happy to discuss partnerships with institutions sending high volumes of samples. Please email Daniel Palmer at inquiry@mgz-muenchen.com for more information.

Billing

When will I be billed for the test I requested?

MGZ reserves the right to request payment in advance of genetic analysis. Upon receipt of your test request, you will be informed if you are required to pay in advance and sent an invoice for payment. If you are not required to pay in advance, the invoice will be sent at the same time as the results report.

Can you email me the bill?

Yes! We can send the invoice by email, fax, or post. On the Test Request Form, please indicate which method you choose and that is how you will receive the invoice.

What payment options are available?

Invoices can be paid either by bank transfer or credit card. Your invoice will contain MGZ’s bank account details for bank transfer. If you would like to pay be credit card, please use the Credit Card Payment Form.

General

What kind of accreditation does MGZ hold?

MGZ has been accredited since May 2000 by the DAkkS, the German Accreditation Body. Read more about our accreditation and quality management here.

Informed consent should always take place prior to genetic testing. It is the responsibility of the requesting clinician to ensure the patient or legal representative has been given genetic counseling with explanation of the possible results and implications of testing as well as the opportunity to ask questions. The patient or legal representative should be voluntarily choosing to pursue genetic testing. If your institution has a consent form which has been completed by the patient and clinician, you may send this along with your test request. Regardless, the requesting clinician must check the box on our Test Request Form indicating informed consent has taken place.

What will you do with the remaining DNA once the test is completed?

After the completion of molecular genetic analyses, all remaining unused DNA will be stored on location and is thus available for future testing. If you wish for the remaining unused DNA to be destroyed after testing, please indicate this clearly on the Test Request Form.