Subjects with chromosomal abnormality-associated diseases, translocations and inversions, new or familial, cytogenetically balanced, and their families, including:

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• Congenital anomalies of eyes, limbs, among others;

• Psychomotor development alterations;

• Infertility (apparently not caused by chromosomal aneuploidies);

• Late onset diseases, including oncological diseases which may be 

          associated with chromosomal rearrangements seemingly

          not pathogenic or "benign".

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This study is possible trough the following samples:

• Peripheral blood

• Urine

• Skin Biopsy

• Biological samples from diagnosis procedures or surgery (eg. Amniotic fluid cells).

 

 

From these samples we will make nucleic acid extractions (DNA and RNA) and establish cell lines. The establishment of cell lines will allow surpassing the need for new samples in the future.

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For each individual it will be necessary:

• 1.5 ml of peripheral blood in sodium heparin (HepNa2);

• 3-5 ml of peripheral blood in EDTA (2 tubes);

• 3 ml of peripheral blood in collection tubes that stabilizes intracellular RNA;

• 12 ml of peripheral blood in sodium heparin (HepNa2);

• 120mL of clean-catch midstream urine.

 

 

Samples should reach the laboratory within 48 hours after the collection,

at room temperature, by express mail, together with a participation form.

 

Before harvesting and sending samples, please contact the laboratory.