At our Genetic Disease Evaluation Center, we aim to provide the best and most cost-effective solutions to our valued patients by leveraging our experience and knowledge of international standards, technological advances, and industrial systems.

We offer prenatal (before birth) and postnatal (after birth) genetic testing for the diagnosis and management of all genetic disorders using modern genetic applications.

Prenatal and Postnatal Genetic Tests

Early Trisomy Detection (QF-PCR)

Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR) detects aneuploidies of chromosomes 21, 18, 13, X, and Y, covering approximately 95% of all chromosomal abnormalities in live newborns. Prenatal diagnosis of these abnormalities is typically performed via conventional cytogenetic analysis of amniotic fluid, chorionic villus, or fetal blood cultures, which may take 2–3 weeks. QF-PCR provides preliminary information to support the diagnosis and ease patient anxiety during the conventional cytogenetic reporting process.

Y Chromosome Microdeletion Test

Y chromosome microdeletion testing is recommended for some couples experiencing male-factor infertility, particularly in cases of azoospermia or severe oligoasthenoteratozoospermia (OAT). The AZF region on the Y chromosome is crucial for sperm production, and deletions in AZFa, AZFb, or AZFc can lead to reduced sperm count or complete cessation of sperm production.

Chromosome Analysis from Amniotic Fluid

Performed between 16–20 weeks of gestation, this test detects numerical and structural chromosomal abnormalities in the fetus. Indications include maternal age over 35, high-risk biochemical screening results, abnormal ultrasound findings, previous children with chromosomal anomalies, balanced chromosomal rearrangements in parents, or medical interventions such as intracytoplasmic sperm injection (ICSI) that increase chromosomal risk.

Chromosome Analysis from Fetal Blood

Performed after 20 weeks of gestation, this test is used to identify chromosomal abnormalities when prenatal analysis is indicated later in pregnancy. It may also be used to confirm mosaicism detected in amniotic fluid.

Chorionic Villus Sampling (CVS)

CVS, also known as placental biopsy, is a test to examine the fetus’s chromosomes and detect certain genetic disorders, most commonly Down Syndrome, as well as Edward Syndrome, Turner Syndrome, and Klinefelter Syndrome.

Chromosome Analysis from Peripheral Blood

This test detects numerical and structural chromosomal abnormalities in individuals with dysmorphic features, congenital malformations, growth and developmental delays, mental or motor retardation, infertility, recurrent pregnancy losses, or a family history of chromosomal abnormalities.

Thrombophilia Panel

The thrombophilia panel assesses increased blood clotting tendency and elevated risk of venous thromboembolism (VTE). Several hereditary and acquired factors contribute to thrombophilia. Screening for Factor V Leiden, Prothrombin G20210A, and MTHFR (C677T, A1298C) mutations provides a diagnostic accuracy of approximately 99%.