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Karyotyping - Blood (Husband)

Genetic
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Report in 720Hrs

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No Fasting Required

Details

Used in the diagnosis of genetic diseases, infertility, birth defects, and hematologic malignancies

₹2,499₹4,400

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Karyotyping - Blood (Husband)

  • Why is it done?
    • Karyotyping is a cytogenetic test that visualizes and analyzes the complete set of chromosomes in a blood sample to identify chromosomal abnormalities and determine the chromosome count and structure
    • Evaluation of infertility in couples - determines if chromosomal abnormalities in the husband are contributing to recurrent miscarriages, failed conceptions, or reduced sperm quality
    • Detection of balanced or unbalanced chromosomal rearrangements such as translocations, inversions, deletions, or duplications that may affect reproductive outcomes
    • Assessment of recurrent pregnancy loss - particularly after multiple miscarriages where parental chromosomal abnormalities may be responsible
    • Identification of sex chromosome abnormalities (such as XYY or XXY) that may affect fertility and sexual development
    • Genetic counseling and reproductive planning - provides information necessary for couples to make informed decisions about family planning
    • Typically performed during fertility workup or when investigating causes of infertility after initial semen analysis and basic reproductive testing
  • Normal Range
    • Normal male karyotype: 46,XY - indicates 46 chromosomes total with normal sex chromosomes (XY)
    • Chromosome count: 46 total chromosomes (22 pairs of autosomes plus 1 pair of sex chromosomes)
    • Chromosome structure: All autosomes should be structurally intact without visible deletions, duplications, translocations, or inversions
    • Normal interpretation: No chromosomal abnormalities detected; the individual has a structurally and numerically normal karyotype with normal fertility potential from a chromosomal standpoint
    • Normal male banding patterns: Each chromosome should display characteristic banding patterns when stained with Giemsa stain, allowing for identification and analysis
  • Interpretation
    • Balanced Translocation (e.g., 46,XY,der(13;14)(q10;p10)): A segment from one chromosome is transferred to another without loss or gain of genetic material. The carrier is usually phenotypically normal but has increased risk of producing unbalanced gametes, leading to miscarriages or chromosomally abnormal offspring. Genetic counseling is essential. Risk of chromosomal abnormality in offspring is typically 10-15%
    • Robertsonian Translocation (e.g., 45,XY,der(14;22)(q10;q10)): Two acrocentric chromosomes join together. Carrier has 45 chromosomes but balanced genetic material. Associated with higher risk of recurrent miscarriages (up to 50% in some cases) and risk of Down syndrome in offspring
    • Klinefelter Syndrome (47,XYY or 47,XXY): Sex chromosome abnormality where male has extra X or Y chromosome. Associated with infertility or significantly reduced fertility, low or absent sperm production, and may have developmental or behavioral features
    • Chromosomal Deletion (e.g., 46,XY,del(Yq)): Loss of a chromosome segment. Severity depends on size and genetic content of deleted region. Y chromosome deletions often result in azoospermia (no sperm) or severe oligospermia
    • Chromosomal Inversion (e.g., 46,XY,inv(9)(p11;q12)): A segment of chromosome is reversed. Most inversions are balanced and clinically insignificant, but can lead to unbalanced recombinant chromosomes in offspring, resulting in miscarriages
    • Chromosomal Duplication (e.g., 46,XY,dup(Xq)): Extra copy of a chromosome segment results in genetic imbalance. May cause subfertility or production of unbalanced gametes with increased miscarriage risk
    • Mosaic Karyotype (e.g., 45,X/46,XY): Different cell lines contain different chromosomal compositions. Clinical severity depends on proportion of abnormal cells and specific abnormality present
    • Factors affecting interpretation:
    • Sample quality - insufficient metaphase cells or poor banding may require repeat testing Laboratory methodology - different staining techniques may reveal different levels of detail Number of cells analyzed - typically 20-30 metaphase cells examined to detect mosaicism Partner's karyotype results - important for determining recurrence risk and genetic counseling
  • Associated Organs
    • Primary organ systems involved:
    • Reproductive system (testes, seminal vesicles, prostate) - chromosomal abnormalities directly affect spermatogenesis and fertility
    • Endocrine system - some chromosomal abnormalities affect hormone production affecting fertility and sexual development
    • Nervous system - certain chromosomal abnormalities associated with developmental or neurological features
    • Conditions associated with chromosomal abnormalities:
    • Infertility - reduced or absent sperm production (azoospermia or oligospermia) Recurrent miscarriage - multiple pregnancy losses due to unbalanced chromosome transmission Azoospermia factor (AZF) deletions on Y chromosome - complete absence of sperm Klinefelter syndrome - small testes, infertility, possible developmental features Subfertility - reduced fertility potential Sexual development disorders - abnormal secondary sexual characteristics Potential genetic contribution to embryonic implantation failure
    • Potential complications from abnormal results:
    • High recurrence risk of chromosomal abnormalities in offspring - up to 50% in some balanced translocations Increased risk of miscarriage in partner's pregnancies Production of unbalanced gametes - leading to chromosomally abnormal conceptions Potential need for prenatal diagnosis in future pregnancies Psychological impact - anxiety regarding family planning and genetic inheritance Infertility requiring assisted reproductive technologies Need for preimplantation genetic testing (PGT) in in vitro fertilization
  • Follow-up Tests
    • If abnormality detected:
    • Karyotyping of partner (wife) - to determine if partner also carries abnormality and assess risk to offspring
    • Fluorescence in situ hybridization (FISH) - provides specific identification of structural rearrangements and can detect cryptic abnormalities
    • Array comparative genomic hybridization (aCGH) - detects submicroscopic deletions and duplications missed by conventional karyotyping
    • Sperm analysis/semen analysis - if Y chromosome abnormality suspected, detailed analysis of sperm count and motility
    • Hormonal testing (FSH, LH, testosterone) - if Klinefelter syndrome or other sex chromosome abnormality suspected
    • Genetic counseling - essential for couples with chromosomal abnormalities to discuss recurrence risks and reproductive options
    • For future pregnancy management:
    • Prenatal karyotyping/NIPT (non-invasive prenatal testing) - to detect chromosomal abnormalities in fetus during pregnancy
    • Preimplantation genetic testing (PGT-A, PGT-SR) - if pursuing in vitro fertilization, screens embryos for chromosomal abnormalities before implantation
    • Ultrasound and fetal monitoring - increased surveillance during pregnancy if partner becomes pregnant
    • If normal karyotype results:
    • If infertility persists, continue investigation with semen analysis, hormone assessment, and imaging studies If recurrent miscarriage, consider investigation of other causes (thrombophilias, uterine abnormalities, immune factors) Genetic counseling may still be beneficial to discuss inheritance patterns and other genetic factors
  • Fasting Required?
    • Fasting required: No
    • Karyotyping does not require fasting as it only requires a blood sample for chromosomal analysis and is not affected by food or drink intake
    • Patient preparation requirements:
    • No specific preparation required - patient can eat, drink, and take medications normally Bring photo ID and insurance card to the laboratory Wear loose-fitting clothing with sleeves that can be easily rolled up for venipuncture Inform phlebotomist of any history of fainting or needle anxiety Stay hydrated - adequate hydration may make venipuncture easier Inform healthcare provider of any medications being taken, though no medications need to be stopped for this test Avoid strenuous exercise immediately before blood draw if possible Avoid heavy smoking or caffeine immediately before the test if possible, as these may affect vein visibility
    • Sample collection:
    • Approximately 5-10 mL of peripheral blood is collected by venipuncture into special culture tubes (usually heparinized or with other appropriate growth medium) The blood is then cultured and stimulated to induce cell division (mitosis) Cells are harvested at metaphase when chromosomes are most visible Chromosomes are fixed and stained for analysis Complete analysis typically requires 1-2 weeks, though preliminary results may be available sooner

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