Karyotype

Karyotyping is a time-tested cytogenetic technique that allows for the visual assessment of an individual’s full chromosome set under a microscope. It is used to detect numerical and large structural changes in chromosomes, providing essential insights into genetic causes of developmental disorders, infertility, recurrent pregnancy loss and hematology / oncology conditions. It is specially useful in detection of balanced translocations and chromosomal breakage studies.

Karyotyping is widely used in both prenatal and postnatal settings to identify large-scale chromosomal abnormalities that affect fertility, development, and overall genetic health. It is typically recommended in the following scenarios:

Prenatal:

Abnormal findings on ultrasound
Positive or high-risk results from NIPT or biochemical screening
Previous pregnancy with a chromosomal disorder
Advanced maternal age
Recurrent pregnancy loss or unexplained infertility
Parental history of chromosomal rearrangements
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Postnatal:

Unexplained developmental delay or intellectual disability
Dysmorphic features or congenital anomalies
Ambiguous genitalia or disorders of sexual development
Suspected chromosomal syndromes (e.g., Turner, Klinefelter)

Oncology:

Hematologic malignancies (e.g., CML, AML) for oncology-related studies

Karyotyping allows visualization of the entire chromosome set under a microscope, enabling detection of:

Numerical abnormalities: e.g., Trisomy 21 (Down syndrome), Trisomy 18, Trisomy 13
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Sex chromosome aneuploidies: e.g., Turner syndrome (45,X), Klinefelter syndrome (47,XXY)
Structural rearrangements: Translocations (balanced/unbalanced), inversions, deletions, duplications
Mosaicism: Presence of two or more genetically different cell lines
Marker chromosomes and ring chromosomes
Cancer-specific chromosomal changes (when used in oncology)

Prenatal Samples

Amniotic Fluid
- Collected via amniocentesis (15–20 weeks gestation)
- Volume: 15–20 ml
- Container: Sterile screw-capped container (no fixatives)
- Transport: Room temperature; deliver within 24 hours
- Important: Do not refrigerate, centrifuge, or freeze
Chorionic Villi (CVS)
- Collected via chorionic villus sampling (11–14 weeks gestation)
- Amount: 10–20 mg of tissue
- Container: Sterile container with normal saline or transport medium
- Transport: Room temperature; deliver within 24 hours
- Important: Do not use preservatives or fixatives
Products of Conception (POC)
- Collected from fetal tissue post-miscarriage or stillbirth
- Preferred Sample: Placental/fetal tissue (avoiding maternal decidua)
- Amount: Minimum 20–30 mg of fresh tissue
- Container: Sterile container with normal saline or transport medium
- Transport: Room temperature; deliver within 24 hours
- Important: Avoid formalin or any fixative
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Postnatal Samples

Peripheral Blood
- Used for testing children or adults with developmental or congenital disorders
- Volume: 3–5 ml
- Container: Heparin (green-top) vacutainer
- Transport: Room temperature; deliver within 24 hours
- Important: Do not refrigerate or delay transport

Clinical Benefits

Genome-Wide Chromosomal Overview:

Provides a full picture of chromosomal number and structure, critical for identifying both inherited and acquired anomalies.

Essential in Reproductive Genetics:

Widely used in infertility workups, prenatal diagnosis, and recurrent pregnancy loss to identify balanced translocations or aneuploidies.

Valuable in Pediatric and Developmental Cases:

Helps diagnose chromosomal syndromes linked to intellectual disability, congenital anomalies, or ambiguous genitalia.

Oncologic Relevance:

Identifies chromosomal changes characteristic of certain leukemias, lymphomas, and solid tumors, supporting diagnosis and prognosis.

Clinically Validated & Globally Accepted:

A gold-standard cytogenetic tool with decades of use, recognized by clinical guidelines for a wide range of diagnostic applications.

Designed for clinicians. Meaningful answers for families

Our cytogenetics laboratory handles a wide spectrum of sample types and conditions. Our highly experienced scientists help in understanding of chromosomal aberrations across prenatal, postnatal, and oncology specialties—providing clarity where it matters most.

Need Help Deciding?

If you're unsure whether you should consider karyotype or Chromosomal Microarray (CMA), our team of certified genetic counselors is here to guide you.

Karyotype

Designed for clinicians. Meaningful answers for families

Need Help Deciding?

Corporate

Test & Services

Karyotype

Designed for clinicians. Meaningful answers for families

Need Help Deciding?

Blood

Blood for Couples

Amniotic Fluid

Chorionic Villus Sample

Product of Conception

Cored Blood

Chromosomal Breakage Study

Corporate

Test & Services