Chromosomes carry our genetic material (genes).
Humans usually have a set of chromosomes consisting of 46 chromosomes: 22 pairs of autosomes and 2 pairs of sex chromosomes (XY in men, XX in women).
Deviations from the normal number or structure of chromosomes (chromosomal aberrations) occur in approximately 0.5 % of all live births. Chromosomal aberrations can be analysed before a child is born, i.e. prenatally.
Frequent indications of chromosome analyses include:
- unclear intellectual disability or developmental delay
- multiple congenital malformations
- women with a short stature of unknown cause
- familial chromosome changes
- repeated miscarriages
- during pregnancy:
- advanced maternal age, ultrasound abnormalities
- unusual results of biochemical tests such as first trimester screening, integrated screening
Prenatal chromosome analysis using:
- Amniotic cells
approx. 10 – 15 ml. Discard the first 2 ml. Store and transport at room temperature. Never centrifuge!
Register sample by phone (+49 6132 781 411) / Fax (+49 6132 781 194) with the Client Service of Human Genetics
Duration*: 8 – 10 days
- Chorionic villi (CVS)
min. 20 – 30 mg chorionic villi,
Use sterile transport medium (available upon request)
Register sample with the Client Service (see above) by telephone or fax.
Duration*: direct preparation 1 – 2 days; culture 8 – 10 days
- Cord blood
2 – 3 ml cord blood in lithium heparin tube. Additionally, the Kleihauer-Betke test is conducted.
Duration*: 7 days
- Abortion material
Material: chorionic villi, sections of the umbilical cord, Achilles tendon or fascia lata, use sterile transport medium (available on request)
Alternatively: sterile uncoated tube with physiological NaCl with antibiotics addition (penicillin (100µg/ml), streptomycin (100µg/ml) or gentamycin (50µg/ml)). Do not put in formalin!
Duration*: 10 – 14 days
Request form: Prenatal diagostics
Postnatal chromosome analysis using:
- Lithium heparin blood
Adults: 5 – 7 ml
Children: 5 – 7 ml
Newborns: 1 – 2.5 ml
Duration*: 10 – 14 days; urgent cases: 5 – 7 days
- Fibroblasts, skin approx. 5 mg tissue, sized 2 – 10 mm2 in sterile transport medium (available on request). Do not put in formalin!
Duration*: 10 – 14 days
Request form: Postnatal chromosome diagnostics
The following aspects have to be considered:
- Genetic counselling and testing do not burden your laboratory budget.
- To request a molecular or cytogenetic laboratory test, the laboratory form, template 10 with indication of the suspected diagnosis is required.
Duration* = Processing time after arrival of the sample in the laboratory