Karyotyping - Blood (Husband)
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Used in the diagnosis of genetic diseases, infertility, birth defects, and hematologic malignancies
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🧬 What is Karyotyping – Blood (Husband)?
Karyotyping is a test that examines the chromosomal composition of an individual's blood cells, particularly white blood cells (lymphocytes), to look for numerical or structural abnormalities in chromosomes.
This test, when done for the husband, is often part of:
- Infertility evaluation
- Recurrent miscarriage investigation
- Preconception genetic screening
❓ Why is the Test Done?
In the context of the husband:
- Infertility causes, especially non-obstructive azoospermia or oligospermia
- Carrier status of balanced chromosomal translocations
- Investigation in couples with recurrent miscarriages
- Sperm anomalies due to chromosomal defects
- Screening prior to assisted reproductive technology (ART/IVF/ICSI)
🧪 How the Test is Done
- Blood is drawn from a vein
- Lymphocytes are cultured and stimulated to divide
- Chromosomes are visualized at the metaphase stage and analyzed under a microscope
- A karyogram is created (a photographic arrangement of chromosomes)
📊 Normal Karyotype Result
Notation | Interpretation |
|---|---|
46, XY | Normal male karyotype |
📈 Interpretation of Abnormal Results
Result | Condition |
|---|---|
47, XXY | Klinefelter syndrome (may cause infertility) |
Structural translocation (e.g., t(13;14)) | Balanced translocation – may cause miscarriages or infertility |
Y chromosome microdeletion or mosaicism | May affect spermatogenesis |
Marker chromosomes | Small additional chromosomes, variable effects |
🧠 Associated Conditions & Organs
System | Conditions |
|---|---|
Reproductive | Male infertility, azoospermia, oligospermia |
Genetic | Balanced translocation carrier, increased risk to offspring |
Fetal risk | Chromosomal anomalies in conceptus leading to miscarriage or congenital anomalies |
🔄 Related / Follow-Up Tests
- Karyotyping – Wife
- Semen Analysis
- Y Chromosome Microdeletion (PCR based)
- FISH for sperm aneuploidy
- Array CGH / SNP Microarray (for high-resolution chromosomal issues)
✅ Fasting Required?
Test | Fasting Requirement |
|---|---|
Karyotyping – Blood | ❌ No |
📝 Summary Table
Parameter | Details |
|---|---|
What | Chromosome analysis from husband’s white blood cells |
Why | Evaluate male infertility, recurrent miscarriage, genetic risks |
Normal Result | 46, XY |
Abnormal Findings | XXY, balanced translocations, mosaicism |
Associated Conditions | Infertility, miscarriage, congenital anomalies |
Follow-up Tests | Karyotyping of wife, semen analysis, FISH, Y deletion testing |
Fasting Required | ❌ No |
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