Cytogenetic Testing

What is Cytogenetic Testing?

Cytogenetic testing is a specialised prenatal and postnatal test used to examine chromosomes for abnormalities that can cause genetic disorders or health conditions. This advanced cytogenetic analysis test identifies numerical or structural chromosomal changes, such as aneuploidies, deletions, duplications, and translocations. Cytogenetic blood tests and other tissue analyses, including amniotic fluid, chorionic villus sampling (CVS), and products of conception (POC), can provide critical insights into genetic health.

Prenatal Cytogenetic Testing

Test Type Details
Chorionic Villus Sampling (CVS) Timeframe : 10th to 12th weeks of gestation.
Tests: Karyotyping and Karyotyping + FISH (various probes).
Sample : Chorionic villi.
Amniotic Fluid Testing Timeframe : 15th to 18th weeks of gestation.
Tests: Karyotyping and karyotyping + FISH (various probes).
Sample : Amniotic fluid with amniocytes.
Cordocentesis Timeframe : On or after the 18th week of pregnancy.
Tests: Karyotyping and karyotyping + FISH (various probes).
Sample : Blood from the umbilical cord vein.
Microdeletion Testing by FISH Purpose: Detects small deletions less than 5 Mb that are not visible with standard karyotyping.
Method: FISH with specific probes.

Clinical Applications of Cytogenetic Tests

  • Karyotyping and High-Resolution Banding (HRB): Detects large chromosomal anomalies.
  • Fluorescent In Situ Hybridization (FISH): Identifies specific chromosomal changes, including microdeletions.
  • Products of Conception (POC) Testing: Analyses chromosomal reasons for miscarriages.
  • Male Fertility Tests: Detects chromosomal issues affecting male fertility.

Specifications

  • Karyotyping: Gold standard for cytogenetic analysis.
  • Process: Cells collected, cultured, and arrested at metaphase.
  • Uses: Detects aneuploidies, chromosomal gains/losses >5 Mb, balanced translocations, and large chromosomal inversions.
  • Resolution: Typically 350 bands.
Human DNA structure highlighting MedGenome genetic testing and DNA test in India

Cytogenetic Tests Offered by MedGenome

Key Highlights of MedGenome's Cytogenetic Testing

High Sensitivity and Specificity

Cytogenetic blood test ensures the detection of small chromosomal changes, improving diagnostic accuracy.

Rapid Turnaround Time

Delivers timely results, facilitating prompt clinical decision-making.

Integrated Services

Combines multiple testing methodologies to provide a thorough and integrated analysis of genetic information, supporting overall patient health and well-being.

What is Cytogenetic Testing?

Cytogenetic testing is a specialised laboratory technique used to examine a person’s chromosomes for changes or abnormalities. Chromosomes are structures within our cells that carry genetic information. Each person typically has 46 chromosomes, arranged in 23 pairs. These tests help identify any issues, such as missing or extra chromosomes or structural abnormalities, which may lead to genetic disorders or health conditions. Cytogenetic analysis tests are crucial in diagnosing various genetic conditions, including congenital anomalies, developmental delays, and certain types of cancers. The test can also assist in determining the genetic health of an unborn baby during pregnancy. It provides valuable information that helps healthcare providers plan appropriate treatment or management strategies.

What Types of Chromosomal Abnormalities Can Be Detected Through Cytogenetic Testing?

Category Description / Examples
Numerical Abnormalities Abnormal number of chromosomes.
Examples: Down syndrome, Turner syndrome, Klinefelter syndrome.
Structural Abnormalities Changes in chromosome structure.
Types include:
• Deletions: Missing segment.
• Duplications: Extra segment.
• Translocations: Segment moved to another chromosome.
• Inversions: Segment flips and reattaches.
• Insertions: Extra material inserted.
• Ring Chromosomes: Ends are deleted, and the chromosome forms a ring.
Microdeletions & Microduplications Small changes less than 5 Mb in size.
Types:
• Microdeletions: Small missing segments.
• Microduplications: Small duplicated segments.
Mosaicism The presence of different genetic cell lines in one individual.
Example: Mosaic Down syndrome with mixed normal and trisomy 21 cells.
Cancer-Related Abnormalities Specific chromosomal changes linked to cancers like leukemia and lymphoma.
Cytogenetics aids in diagnosis, prognosis, and treatment planning.
MedGenome scientist conducting genetic testing and DNA test services in India

What Are the Cytogenetic Tests Offered at MedGenome?

At MedGenome, we offer a range of advanced cytogenetic tests to meet the needs of patients and healthcare providers. Our state-of-the-art facilities and expert team ensure accurate and reliable results. The cytogenetic testing we offer includes:

Karyotyping and High-Resolution Banding:
This is a basic cytogenetic test that examines the number and structure of chromosomes. It helps identify numerical and structural abnormalities. Karyotyping is commonly used in diagnosing conditions like Down syndrome, Turner syndrome, and certain cancers like leukemia. Amniotic fluid karyotyping is also a part of cytogenetic testing.

Fluorescence In Situ Hybridisation (FISH):
FISH is a more targeted test that uses fluorescent probes to detect specific genetic changes. It is highly effective in identifying subtle chromosomal abnormalities and is widely used in cancer diagnosis and prenatal testing.

POC Testing by Cytogenetics:
POC analyses tissue from miscarriages to determine if chromosomal abnormalities caused the pregnancy loss. This helps in understanding the cause and planning future pregnancies.

Male Fertility Tests:
Male Fertility Tests analyse chromosomes in sperm or detect deletions on the Y chromosome, helping to find genetic reasons for male infertility and guide treatment options.

Chromosomal Microarray Analysis (CMA):
CMA is a high-resolution cytogenetic analysis test that can detect even the smallest chromosomal changes, which is particularly useful for diagnosing developmental delays, mental retardation, autism spectrum disorders, and congenital abnormalities.

Why Choose MedGenome for Cytogenetic Testing?

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