THE HUMAN CYTOGENETICS LABORATORY within the HUMAN GENOMICS LABORATORY is a laboratory specialized in the study of human chromosomes’ structure and number.

Methods used for chromosome analisys:

- CLASSIC CYTOGENETICS  ––  G-BANDED KARYOTYPE

- MOLECULAR CYTOGENETICS  – ARRAY CGH KARYOTYPE

CHROMOSOME ANALYSIS –  G-BANDED KARYOTYPE (350 – 550 bands).

Chromosome analysis can be performed from various types of tissue: blood, bone marrow, amniotic fluid, products of conception (POC) and soon to be available – chorionic villus. The cells are grown and stopped during the division, the slides are processed, G-banded and examined microscopically. The level of the bands obtained in the laboratory allows the detection of both structural (translocations, deletions, invesions etc) and numerical chromosomal abnormalities.

MOLECULAR KARYOTYPING – ARRAY CGH

It is a method with a very high resolution based on comparative genomic hybridization (CGH) of the ADN to be analyzed with an reference ADN sample using array slides which contain thousands of probes targeting multiple genes and chromosomal regions. Array CGH can detect unbalanced chromosomal abnormalities associated with changes in the number of DNA copies (microdeletions and microduplications) than can not be detected by standard Karyotyping and FISH analysis.

INDICATIONS FOR CHROMOSOME ANALYSIS  – G-BANDED KARYOTYPE 

a. peripheral blood

- suspected chromosomal syndrome (Down, Turner, Klinefelter, Patau, Edwards)

- multiple malformations

- sexual ambiguity

- repeated miscarriages

- infertility

- family history of chromosomal rearrangements

b. amniotic fluid, product of conception

- Prenatal detection of numeral and structural chromosome abnormalities

 - Suspected chromosomal anomaly at ultrasound

- Altered biochemical screening (double test, triple test)

- malformed product of conception

c.  bone marrow

- Detection of numerical and structural chromosomal abnormalities in leukemias and lymphomas

INDICATIONS FOR ARRAY CGH – PERIPHERAL BLOOD

- Multiple congenital anomalies

- Mental retardation

- Autistic spectrum

INVESTIGATIONS AND PRICES