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Cytogenetics And Microarray Analysis

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The MGZ - Medical Genetics Center offers the following genetic testing options to complement its comprehensive menu of diagnostic services.

Chromosomal Microarray Analysis (CMA)

CMA is particularly useful in cases of developmental delay, multiple congenital anomalies, intellectual disability, and autism spectrum disorders.

CMA is a first-tier assay for the identification of pathogenic copy number variants. Employing the Infinium® CytoSNP-850K BeadChip (Illumina) allows for high resolution testing of copy number variants and of copy number neutral regions of loss of heterozygosity (LOH), as well as low-level mosaicism (up to 10%).

We have summarized some key information about prenatal chromosomal microarray analysis for patients and clinicians in the following brochures:

Patient Information - Prenatal Chromosomal Microarray Analysis

Clinician Information - Prenatal Chromosomal Microarray Analysis

Sample Requirements

Accepted Sample Types

  • 2-4 ml EDTA blood or DNA
  • Prenatal samples (amniotic fluid, chorionic villus sampling)
  • Products of conception (POC)

Please contact us prior to sending any prenatal or POC samples.

Note: An additional fee applies for prenatal sample handling and processing.

View all sample requirements

Turnaround Time

  • 2 weeks
  • 4 days (if urgent)

Price Inquiries & Test Ordering

To request price information:

  • Send your price request via MGZ's Inquiry/Order portal.
    • Enter Chromosomal Microarray Analysis (CMA) in the Individual Request field and click Add
    • Enter Prenatal Sample Handling & Processing in the Individual Request field and click Add. (if applicable)

       OR

 

For detailed test ordering information:

Questions about CMA analysis at MGZ? Contact our Head of Cytogenetics, Udo Koehler, PhD, at udo.koehler@mgz-muenchen.de.

Karyotyping

The MGZ offers karyotyping for a variety of clinical applications. Karyotyping of GTG-banded metaphase chromosomes is applied to test for numerical (aneuploidies) and structural chromosome aberrations (balanced and unbalanced).

 Indications for karyotyping include:

  • Suspicion of numerical or structural chromosome aberrations
  • Infertility / subfertility
  • Recurrent miscarriages
  • Family history of chromosome aberration
  • Mosaicism
  • Prenatal testing

Sample Requirements

Accepted Sample Types

  • 2-4 ml heparinized peripheral blood
  • Prenatal samples (amniotic fluid, chorionic villus sampling)
  • Skin biopsies
  • Products of conception (POC)

Please contact us prior to sending any prenatal or POC samples.

Note: An additional fee applies for prenatal sample handling and processing.

View all sample requirements

Turnaround Time

  • 2 weeks
  • 4 days (if urgent)

Price Inquiries & Test Ordering

To request price information:

  • Send your price request via MGZ's Inquiry/Order portal.
    • Enter Karyotyping in the Individual Request field and click Add
    • Enter Prenatal Sample Handling & Processing in the Individual Request field and click Add. (if applicable)

       OR

 

For detailed test ordering information:

Questions? Contact our Head of Cytogenetics, Udo Koehler, PhD, at udo.koehler@mgz-muenchen.de.

Fluorescent in-situ Hybridization (FISH)

Fluorescent in-situ-hybridization (FISH) is offered in the frame of prenatal aneuploidy testing, and to validate results of karyotyping and CMA assays.

FISH utilizes fluorochrome-labeled probes that bind to complementary chromosomal regions.

Sample Requirements

Accepted Sample Types

  • 2-4 ml heparinized peripheral blood
  • Prenatal samples (amniotic fluid, chorionic villus sampling)

Please contact us prior to sending any prenatal or POC samples.

Note: An additional fee applies for prenatal sample handling and processing.

View all sample requirements

Turnaround Time

  • 2 weeks
  • 4 days (if urgent)

Price Inquiries & Test Ordering

To request price information:

  • Send your price request via MGZ's Inquiry/Order portal.
    • Enter FISH Analysis in the Individual Request field and click Add.
    • Enter Prenatal Sample Handling & Processing in the Individual Request field and click Add. (if applicable)

       OR

 

For detailed test ordering information:

Questions? Contact our Head of Cytogenetics, Udo Koehler, PhD, at udo.koehler@mgz-muenchen.de.