Molecular Cytogenetics | MedGenome

What is Cytogenetic Testing?

Cytogenetic testing can be done on various body tissues in prenatal or postnatal situations. Various numerical or structural abnormalities of chromosomes that lead to abnormalities can be detected using these techniques. These tests can be offered prenatally or postnatally or on aborted specimen.

What are the Cytogenetic tests offered at MedGenome?

Cytogenetic tests are an important component of invasive prenatal diagnosis. MedGenome offers a range of tests covering the broad spectrum of prenatal cytogenetic testing services. The tests that we offer can be broadly classified into the following headings:

Karyotyping- This is the gold standard in cytogenetic analysis. Here cells are collected from prenatal and postnatal samples, cultured and arrested at Metaphase. The chromosomal complement of the cells is then analysed. Standard Karyotype can detect chromosomal gains or losses greater than 5 Mb. For chromosomal gains and losses smaller than this high resolution banding is used. In addition Karyotyping can also detect balanced translocations, inversions, isochromosomes and ring chromosomes as well.

Fluorescent In Situ Hybridization (FISH)- FISH technique provides higher resolution compared Karyotyping. It can be used to detect numerical as well as minor structural rearrangements on all the above tissues to confirm or identify a known genetic problem prior discussion with the lab is essential. FISH is currently available for fetal aneuploidy, micro-deletion syndromes and oncology mainly haematological malignancies.

Product of Conception testing by Cytogenetics- Approximately 60–70% of first-trimester miscarriages are caused by chromosomal abnormalities. This test is used to detect the chromosomal abnormalities that caused the miscarriage. The testing is done by taking a small sample of the Products of Conception and checking for chromosomal abnormalities using standard techniques such as Karyotyping or Fluorescence In Situ Hybridization (FISH) or advanced method such as Chromosomal Microarray. Please check our Recurrent Pregnancy Loss test page for more information

Male Fertility Tests- Contributes about 40-50% of the total infertility burden. Chromosomal aberrations, either numerical or structural in nature, can have profound effects on fertility Chromosomal aberrations can be present in a male presenting with infertility. This test checks for chromosomal aneuploidies, Y chromosome deletions and sperm aneuploidies. These tests would provide a better understanding for any underlying cytogenetic changes contributing to male infertility

Chromosomal Microarray Testing- Offers unparalleled screening for deletions, duplications, loss of heterozygosity for all chromosomes. These microarrays can be used for a wide variety of purposes from POC analysis to the first test choice for Development Delay, Multiple Congenital Anomalies, Mental Retardation and Autism Spectrum Disorders. Based on the number of probes available of the microarray chip; currently we offer the following microarrays for testing purposes. Please check our Chromosomal Microarray page for more information

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