Preanalytics & TAT

Preanalytics & TAT

Cytogenetics

Analysis	Material	Quantity	TAT (after sample receipt)	Additional information
Postnatal
Chromosome analysis	Lithium heparin blood	Newborns: 1 - 2,5 ml Children and adults: 5 - 7 ml	up to 30 days urgent samples: 6 - 8 days
	Skinbiopsy / fibroblasts	Skin approx. 5 mg tissue, 2 - 10 mm² large.	14 days	Sterile, uncoated tube with physiol. NaCl solution. Do not add formalin.
Metaphase FISH	Lithium heparin blood	Newborns: 1 - 2,5 ml Children: 5 - 7 ml Adults: 5 - 7 ml	up to 20 days
Interphase FISH	Lithium heparin blood	Newborns: 1 - 2,5 ml	up to 3 days
Tumor FISH	Bone marrow aspirate (minimum 10 x 106 mononuclear cells)	3 - 5 ml; if a cytogenetic analysis is also requested: 5 - 10 ml heparinised bone marrow aspirate.^***	21 - 30 days; acute leukemias up to 12 days	^*** Final concentration: 10 to max.100 I.U. heparin/ml sample material.
	Leukemic blood (percentage of blasts ≥ 20%)	3 - 5 ml; if a cytogenetic analysis is also requested: 5 - 10 ml heparinised peripheral blood.^***	21 - 30 days; acute leukemias up to 12 days	^*** Final concentration: 10 to max.100 I.U. heparin/ml sample material.
Tumor cytogenetics	Bone marrow aspirate (minimum 10 x 106 mononuclear cells)	5 - 10 ml heparinised bone marrow aspirate.^***	up to 30 days; acute leukemias up to 20 days	^*** Final concentration: 10 to max.100 I.U. heparin/ml sample material.
	Leukemic blood (percentage of blasts ≥ 20%)	5 - 10 ml heparinised peripheral blood.^***	up to 30 days; acute leukemias up to 20 days	^*** Final concentration: 10 to max.100 I.U. heparin/ml sample material.
Prenatal
Chromosome analysis	Amniotic fluid	ca. 10 - 15 ml (discard the first 2 ml amniotic fluid).	10 - 12 days	Store and transport at room temperature. Never centrifuge.
	Chorionic villi (CVS)	min. 20 - 30 mg.	Direct preparation: 1 - 3 days culture: 10 - 12 days	Sterile, uncoated tube with physiol. NaCl solution.
	Umbilical cord blood	2 - 3 ml in Lithium heparin tube.	6 - 8 days	For clarification of maternal cell contamination, an EDTA blood sample (2-3 ml) is also required.
	Abortion material	Chorionic villi, parts of the umbilical cord, Achilles tendon, fascia lata.	10 - 14 days	Sterile, uncoated tube with physiol. NaCl solution. Do not add formalin.
Metaphase FISH	Amniotic fluid	ca. 10 - 15 ml (discard the first 2 ml amniotic fluid).	up to 20 days	Store and transport at room temperature. Never centrifuge. Performed only in combination with conventional chromosome analysis.
	Chorionic villi (CVS)	min. 20 - 30 mg	From culture: up to 20 days	Sterile, uncoated tube with physiol. NaCl solution. Performed only in combination with conventional chromosome analysis.

Molecular genetics

Analysis	Material	Quantity	TAT (after sample receipt)
Single gene analysis	EDTA blood DNA^*	1-2 ml min. 1 µg	4 weeks
Panel diagnostics and Whole-exome sequencing (WES)	EDTA blood DNA^*	1-2 ml min. 1 µg	6 weeks
Whole-genome sequencing (WGS)	EDTA blood DNA^*	1-2 ml min. 1 µg	8 weeks
Optical Genome Mapping (OGM)	EDTA blood	2-3 ml (not older than 4 days)	4 weeks
Chromosomal Microarray (CMA; formerly Array-CGH)	EDTA blood	2-3 ml	4 weeks
Hematooncologic analyses	EDTA blood EDTA bone marrow	8-10 ml 8-10 ml	Go to Hematooncology
Please ship all molecular genetic samples unrefrigerated.
Therapy-relevant and prenatal samples are prioritized in general and processed with shortened TAT.
For prenatal samples, 2µg fetal DNA or 20ml amniotic fluid or 10-20mg chorionic villi (in transport medium) are required, plus 1-2 ml EDTA blood from the mother for contamination exclusion.
^*Nucleic acid (DNA/RNA) will only be accepted as a specimen type, if extraction is performed in a CLIA-certified laboratory or a laboratory that meets equivalent requirements. By submitting nucleic acid specimens to us, you are attesting that the nucleic acid has been extracted in an appropriately qualified laboratory.