
Karyotyping by G-Banding-blood









The Karyotyping by G-Banding-blood is an advanced cytogenetic test used to examine the number, size, shape, and structure of chromosomes to detect genetic abnormalities. It uses a specialized G-banding staining technique, which produces characteristic light and dark banding patterns that help specialists identify missing, extra, or rearranged chromosomes. This test plays an important role in diagnosing inherited genetic disorders, chromosomal abnormalities, congenital anomalies (birth defects), infertility-related genetic conditions, recurrent pregnancy loss, and chromosomal abnormalities associated with certain non-hematological malignancies.
Note: This test is not meant for the diagnosis of hematological malignancies (or Leukemia).












Understanding Karyotyping by G-Banding-blood
The Karyotyping by G-Banding-blood, also known as chromosomal analysis or karyotyping, is a cytogenetic test that evaluates the number and structure of chromosomes to identify genetic or chromosomal abnormalities. Chromosomes are tiny thread-like structures present inside the cells of the body that carry genetic material (DNA), which determines an individual's inherited traits and supports normal growth and development. A healthy individual typically has 46 chromosomes arranged in 23 pairs. Changes in chromosome number or structure can result in genetic disorders, developmental abnormalities, infertility, recurrent miscarriages, etc.
The Karyotyping by G-Banding-blood analyzes chromosomes obtained from a blood sample. The cells are cultured, and chromosomes are stained using the G-banding technique, which creates a unique pattern of alternating dark and light bands. This process allows for the detection of chromosomal abnormalities such as aneuploidy (abnormal numbers of chromosomes) and structural alterations like translocations, inversions, deletions, and duplications, which may contribute to genetic disorders. These chromosomal abnormalities may be responsible for various inherited disorders and developmental conditions, including Down syndrome, Turner syndrome, Klinefelter syndrome, and several other genetic diseases.
The Karyotyping by G-Banding-blood is commonly recommended when there is suspicion of a chromosomal or genetic disorder. It is useful for individuals with unexplained developmental delay, intellectual disability, congenital anomalies (birth defects), or abnormal physical features. In addition, individuals with a family history of inherited chromosomal disorders may undergo this test to assess the likelihood of passing these abnormalities to future generations. The test is also recommended for couples with recurrent pregnancy loss, infertility, poor obstetric history, or a previous pregnancy or child with a chromosomal abnormality to identify parental chromosomal rearrangements that may increase reproductive risk.
For the Karyotyping by G-Banding-blood, a duly completed Chromosome Analysis, Karyotyping/FISH Analysis Requisition Form (PAC/FR/04) is mandatory before sample collection. In addition, all clinical details and other indications/ doctor’s prescription needs to be provided for accurate and timely reporting of results.
Laboratory findings should always be interpreted by a qualified healthcare professional in conjunction with the patient's clinical history and other diagnostic findings. Results may vary between laboratories due to differences in testing methodologies and reporting standards. Do not attempt to self-diagnose or self-medicate based solely on the test results. Always consult your doctor for appropriate interpretation and further management.
Disclaimer: This test is for one individual only. Partner testing, if required, must be done separately.
Note:
- A normal karyotyping result does not completely exclude the possibility of a genetic disorder. Some genetic abnormalities are too small to be detected by conventional karyotyping and may require additional molecular tests, such as FISH, chromosomal microarray, or genetic sequencing.
- Successful chromosome analysis depends on adequate cell growth. Cell growth may be impacted, in some circumstances, when there is a problem with sample integrity; in such cases, repeat sample collection may be required and requested by the lab.
- This is an outsourced test. The sample for this test is collected by TATA 1MG and processed at a NABL accredited partnered lab.
What does Karyotyping by G-Banding-blood measure?
The Karyotyping by G-Banding-blood examines the complete set of chromosomes in a blood sample to evaluate their number, size, shape, and structure. It detects numerical chromosomal abnormalities, such as extra or missing chromosomes (aneuploidy), as well as structural abnormalities, including deletions, duplications, inversions, translocations, and other chromosomal rearrangements.
This test helps identify constitutional (inherited or congenital) chromosomal abnormalities associated with genetic disorders, developmental delay, intellectual disability, congenital anomalies, infertility, recurrent pregnancy loss, and certain reproductive disorders. The results also provide valuable information for genetic counseling, reproductive planning, and determining whether additional genetic tests, such as FISH, chromosomal microarray, or genetic sequencing, may be required.





FAQs related to Karyotyping by G-Banding-blood
- Chromosome Analysis [Internet]. Rochester, NY: University of Rochester Medical Center; [Accessed 19 Mar. 2025]. Available from:
- Jung K, Shin KS, Son BR, Park HS. The Discordance between G-Banding Karyotyping and Microarray in Structural Abnormality. Clin Lab. 2023 Dec 1;69(12). [Accessed 19 Mar. 2025]. Available from:
- Ozkan E, Lacerda MP. Genetics, Cytogenetic Testing And Conventional Karyotype. [Updated 2023 Aug 8]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from:
- Genetic Alliance; The New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services. Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2009 Jul 8. APPENDIX F, CHROMOSOMAL ABNORMALITIES. Available from:
- Stavljenić-Rukavina A. 1. Prenatal Diagnosis of Chromosomal Disorders - Molecular Aspects. EJIFCC. 2008 Apr 3;19(1):2-6. PMID: 27683284; PMCID: PMC4975335. [Accessed 19 Mar. 2025]. Available from:
- Karyotyping [Internet]. ScienceDirect; [Accessed 19 Mar. 2025]. Available from:
- G Banding [Internet]. ScienceDirect; [Accessed 19 Mar. 2025]. Available from:
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