Karyotype of peripheral blood lymphocytes can identify numerical and structural chromosomal abnormalities of all chromosomes. Chromosomal abnormalities are the cause of a wide range of genetic diseases. Culture of peripheral blood lymphocytes and chromosome analysis using high-resolution G-banding.

Clinical indications for peripheral blood karyotyping include:

• Multiple congenital abnormalities
• Dysmorphic features
• Ambiguous external genitalia
• Developmental delay
• Mental retardation with or without autistic features
• Family history of chromosomal rearrangements
• Chromosomal breakage Syndromes (e.g. Fanconi Anemia)

It is also recommended in cases of infertility of unknown etiology, in males with sperm abnormalities (azoospermia or severe oligospermia), in females with primary or secondary amenorrhea or ovarian insufficiency and in couples with two or more miscarriages.

Sample type: Peripheral blood in dry heparin tubes (vacutainer with lithium heparin – green lid)

Time to obtain result: 2-3 weeks

Prenatal testing for fetal chromosomal abnormalities is now considered a necessary diagnostic test in obstetrics. Conventional karyotype of amniotic fluid cells or chorionic villi conventional allows the detection of possible numerical and structural chromosomal abnormalities of the fetus. 

Indications for prenatal karyotyping are:

• Maternal age >35 years
• Abnormal biochemical (PAPP-A) or ultrasound findings (e.g. cervical transparency, congenital anomalies)
• Previous child with a chromosomal abnormality
• Parent carrier of a balanced chromosomal rearrangement
• Abnormal findings in non-invasive prenatal testing (NIPT)

Sample type: Chorionic villi or amniotic fluid sample

Time to obtain result: 3 weeks

Chromosomal abnormalities are the most common causes of 1st trimester miscarriages. Conventional karyotype of the aborted tissue enables the detection of possible numerical and structural chromosomal abnormalities of the aborted fetus.

Sample type: Tissue samples of the aborted fetus in sterile tube 

Time to obtain result: 4 weeks

The purpose of the QF-PCR test is to rapidly screen for the most common chromosomal aneuploidies and reduce the burden on the couple, as Down syndrome (trisomy 21), Pateau syndrome (trisomy 13), Edwards syndrome (trisomy 18), Turner syndrome (monosomy X) and other sex chromosome aneuploidies (XXX, XYY, etc.). The results can be received in less than 48 hours. This test can be combined with conventional of molecular karyotyping.

Sample type: Blood sample in EDTA containing tube, chorionic villi, amniotic fluid sample

Time to obtain result: 24-48 hours

*The sample should always be accompanied by peripheral blood of the mother, in order to test for maternal contamination.

Chromosomal abnormalities have been identified as the main cause of developmental delay, mental retardation, autistic spectrum disorders as well as multiple congenital abnormalities. Chromosomal microarray analysis with molecular karyotype (array-CGH) is a new method that enables the detection of chromosomal abnormalities that are accompanied by a change in the copy number of genetic loci (aneuploidy, deletions, duplications) across the entire genome of a patient or a fetus.  Array-CGH is used to see if the fetus has a chromosome change which may explain the ultrasound findings. The array-CGH technique offers important advantages over the methods of conventional G-banded chromosome analysis, since besides not requiring a cell culture, and it provides a higher diagnostic detection can detect small defects or duplications that may be associated with severe clinical manifestations and would not be detected by conventional karyotyping (e.g. DiGeorge, Prader Willi/Angelman, Williams, etc.). 

Sample Type: Blood sample in EDTA containing tube, chorionic villi, amniotic fluid sample 

Time to obtain result: 10 working days

*The sample should always be accompanied by peripheral blood of the mother, in order to test for maternal contamination.