What is cytogenetic testing?

Cytogenetic testing is the chromosomal analysis of blood to look for chromosomal level alterations in the genome. This test can examine chromosomes to determine abnormalities such as aneuploidy and structural abnormalities.

Aneuploidy involves having one or more extra chromosomes or having missing chromosomes from 23 pairs of chromosomes. Some common aneuploidies that can be detected by cytogenetic testing are Down Syndrome (trisomy 21), Edward’s syndrome (trisomy 18), Turner syndrome (monosomy X), DiGeorge Syndrome (monosomy 22) etc. Various types of structural abnormalizes can also be detected such as Duplication, Deletion, Translocation, and Inversions.

Tests we offer
  • Karyotyping
  • Rapid Aneuploidy detection (Chromosome 13, 18 and 21)
  • MLPA panel for common microdeletion syndrome
  • Array Comparative Genomic Hybridization Assay (aCGh)
  • Fluorescent in Situ Hybridization (FISH)

Karyotyping is an analysis of chromosomes using staining of cells at metaphase and examination under light microscopy. Standardized staining procedure develops characteristic banding pattern, that helps in the identification of chromosomes. Karyogram is 23 pairs of chromosomes typically organized for analysis. Karyotype identify chromosomal abnormalities, change in chromosome number (aneuploidy) and change in the structure of chromosomes (translocations, inversions, deletions, duplications).

MLPA Tests

Multiplex Ligation-dependent Probe Amplification (MLPA) is a technique for the detection of copy number variation (deletion or duplication) of specific genes. Several genetic disorders such as Duchenne Muscular Dystrophy (DMD), Spinal Muscular Atrophy (SMA) is commonly caused by gene deletion or duplications.

Array CGH Testing

Array CGH testing is considered as a frontline test for patients with the presentation of developmental delay, autism spectrum disorders, learning difficulties, dysmorphisms and with or without congenital abnormalities.

Array CGH detects microdeletions and duplications (Copy number variations CNVs) that are not detected by karyotyping.

When to take this test?

Patient with following conditions (one or more):

  • Developmental delay
  • Mental retardation
  • Autism / Autism spectrum disorders
  • Congenital malformations
  • Dysmorphic Features
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  • Post-Test Genetic Counselling Facility
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