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🧬 What is Karyotyping (Blood)?

Karyotyping is a chromosome analysis test that examines an individual's complete set of chromosomes in white blood cells (lymphocytes) from a peripheral blood sample.

It detects numerical or structural abnormalities in chromosomes.
Used in the diagnosis of genetic diseases, infertility, recurrent miscarriages, birth defects, and hematologic malignancies.

❓ Why is the Test Done?

To detect:

Numerical chromosomal abnormalities (e.g., Down syndrome – Trisomy 21, Turner syndrome – 45,X)
Structural chromosomal defects (e.g., deletions, translocations, duplications)
Sex chromosome abnormalities (e.g., Klinefelter syndrome – XXY)
Balanced translocations in couples with infertility or miscarriages
Chromosomal aberrations in leukemia or lymphoma

🧪 How is the Test Performed?

A blood sample is drawn and lymphocytes are cultured for 3–5 days.
Cells are arrested in metaphase, stained, and examined under a microscope.
A karyogram (image of chromosomes arranged in pairs) is created.

📊 Normal Findings

Normal Karyotype	Description
46, XX (female)	Normal female karyotype
46, XY (male)	Normal male karyotype

46 = Total number of chromosomes (23 pairs), XX or XY = sex chromosomes.

📈 Interpretation of Abnormal Results

Finding	Possible Condition
47, XX +21	Down syndrome (Trisomy 21)
45, X	Turner syndrome (monosomy X)
47, XXY	Klinefelter syndrome
46, XY, t(9;22)	Philadelphia chromosome in CML
Balanced translocations	Often asymptomatic carriers but may affect fertility
Marker chromosomes / rings	Rare chromosomal disorders

🧠 Associated Organs & Conditions

System	Conditions Identified via Karyotyping
Reproductive	Infertility, repeated miscarriages, PCOS-like syndromes
Pediatric	Congenital anomalies, developmental delay, mental retardation
Oncology	Leukemia (e.g., CML, AML), lymphoma
Genetic/Metabolic	Turner, Down, Edwards, Patau syndromes

🔄 Related / Follow-Up Tests

FISH (Fluorescence In Situ Hybridization) – For specific chromosomal abnormalities
Array CGH / SNP Microarray – Higher-resolution chromosomal analysis
Molecular testing (PCR, NGS) – Gene-level mutation analysis
Prenatal screening – For suspected fetal abnormalities
Hormone panels – For suspected sex chromosome abnormalities

✅ Fasting Required?

Test	Fasting Requirement
Karyotyping – Blood	❌ Not required

📝 Summary Table

Parameter	Details
What	Microscopic analysis of chromosomes in white blood cells
Why	Diagnose genetic syndromes, infertility, hematologic malignancies
Normal Finding	46, XX (female) or 46, XY (male)
Abnormal Results	Trisomies, monosomies, translocations, deletions
Associated Conditions	Down syndrome, Turner, Klinefelter, CML, miscarriages
Follow-up Tests	FISH, CGH, PCR, prenatal screening
Fasting Required	❌ No

Karyotyping - Blood

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