Navigation auf


Institute of Medical Genetics

Spectrum of Analyses

show all

Microscopic Analyses

Classical microscopic chromosome (karyotype) and FISH analyses

Chromosomal Microarray Analyses 

For the detection of microdeletion/duplication syndromes from blood, amniotic fluid, chorionic villi, umbilical cord blood and tissue biopsies.

Non-Invasive Prenatal Test (NIPT)

Non-invasive prenatal tests (NIPT) on maternal blood for the common trisomies and aneuploidies of chromosm X and Y as well as for grosser abnormalities of chromosomes 1-22

Preimplantation Genetic Tests (PGT)

Preimplantation genetic diagnosis:

  • PGT-M
  • PGT-SR
  • PGT-A

MLPA & Sanger Analyses

MLPA and Sanger analyses for various diseases

Uniparental Disomy & Methylation Tests

Uniparental disomy  and methylation tests

Gene Diagnostics

Gene diagnostics (panel or exome sequencing) for almost all monogenic disease patterns, e.g.:

  • Neuromuscular and neurodegenerative diseases (especially also autism, developmental delay/mental retardation, epilepsy, malformations, m. hypotonia, microcephaly, macrocephaly)
  • Rare genetic diseases (orphan disease; especially also malformation and dysmorphic syndromes, congenital heart defects, hearing loss, ciliopathies)
  • Blood, coagulation, immune system (in particular also SCID, HLH)
  • Skin, connective tissue, bone diseases (especially also skeletal dysplasias)
  • Hereditary cancers (if not on gene panel)
  • Metabolic and endocrine diseases
  • Mitochondrial diseases (nuclear genes)
  • Genitourinary system, fertility disorders, sterility (especially also renal diseases, hypogonadism)

Trinucleotide Repeat Analyses

Trinucleotide repeat analyses for the following diseases/loci:

  • Fragile X syndrome
  • C9orf72 repeat

Egg Test in Multiples

Egg test in Multiples