Spectrum of Analyses

Classical microscopic chromosome (karyotype) and FISH analyses

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

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 diagnosis:

• PGT-M
• PGT-SR
• PGT-A

MLPA and Sanger analyses for various diseases

Uniparental disomy  and methylation tests

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)
• Hereditary eye diseases
• Metabolic and endocrine diseases
• Mitochondrial diseases (nuclear genes)
• Genitourinary system, fertility disorders, sterility (especially also renal diseases, hypogonadism)

Trinucleotide repeat analyses for the following diseases/loci:

• Fragile X syndrome
• C9orf72 repeat

Egg test in Multiples