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Karyotyping by G-Banding on additional metaphase cells (>50 metaphase cells)

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Chromosomal analysis.

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Karyotyping by G-Banding on Additional Metaphase Cells (>50 Metaphase Cells)

  • Why is it done?
    • To detect chromosomal abnormalities including structural rearrangements, numerical abnormalities, and balanced translocations by analyzing an extended number of metaphase cells (greater than 50 cells) using G-banding technique
    • Evaluation of developmental delays, intellectual disability, and congenital anomalies to identify genetic causes
    • Diagnosis and monitoring of hematologic malignancies including leukemias and lymphomas to identify recurrent chromosomal abnormalities
    • Investigation of recurrent miscarriages and infertility to detect parental chromosomal abnormalities
    • Prenatal diagnosis when there is increased risk for chromosomal abnormalities or abnormal prenatal screening results
    • Cancer risk assessment and prognosis determination for solid tumors with specific cytogenetic findings
    • Investigation of growth disorders and short stature of unknown etiology
  • Normal Range
    • Normal result: 46,XX (female) or 46,XY (male) with no structural or numerical chromosomal abnormalities detected
    • Normal range: All 23 pairs of chromosomes (46 total chromosomes) present with normal morphology and banding patterns
    • No clonal abnormalities: In malignancy samples, absence of recurrent abnormal cell clones indicates no detectable cytogenetic abnormality
    • Units of measurement: Reported as karyotype notation using standardized cytogenetic nomenclature (ISCN)
    • Extended analysis benefit: Examining >50 metaphase cells increases sensitivity for detection of low-level mosaicism and rare clones compared to standard analysis
    • Interpretation: Normal karyotype rules out major chromosomal abnormalities but does not exclude submicroscopic deletions/duplications, single gene mutations, or balanced rearrangements
  • Interpretation
    • Numerical Abnormalities:
      • Trisomy (47 chromosomes): Extra chromosome detected; examples include Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13)
      • Monosomy (45 chromosomes): Missing chromosome; Turner syndrome (45,X) most common monosomy compatible with life
      • Sex chromosome abnormalities: XO, XXX, XXY (Klinefelter), XYY; associated with developmental, behavioral, and fertility issues
    • Structural Abnormalities:
      • Deletion: Loss of chromosomal segment; associated with developmental delay, dysmorphic features, and organ involvement depending on size and location
      • Duplication: Extra copy of chromosomal segment; may result in gene dosage imbalance with phenotypic consequences
      • Translocation (unbalanced): Transfer of segment from one chromosome to another with net gain/loss of genetic material; generally pathogenic
      • Translocation (balanced): Reciprocal exchange between chromosomes with no net loss of genetic material; typically phenotypically normal in carriers but increased risk in offspring
      • Inversion: Reversal of chromosomal segment; if paracentric (not including centromere), generally balanced unless breakpoints disrupt genes
      • Ring chromosome: Circular chromosome formed by deletion of telomeric regions and joining of chromosome arms; generally results in developmental delay
    • Mosaicism:
      • Presence of two or more cell lines with different karyotypes; extended metaphase analysis (>50 cells) improves detection of low-level mosaicism
      • Percentage of abnormal cells reported; clinical significance varies with percentage and tissue distribution
    • Cancer-Associated Abnormalities:
      • Philadelphia chromosome (9;22 translocation): Associated with chronic myeloid leukemia; presence has diagnostic and treatment implications
      • Complex karyotypes: Multiple abnormalities in cancer samples; associated with poor prognosis in acute leukemias
      • Hypodiploidy: Fewer than 46 chromosomes in leukemia; generally indicates worse prognosis
    • Factors Affecting Results:
      • Specimen quality: Poor cell culture or metaphase quality may result in inconclusive results
      • Culture conditions: Different media and growth environments may affect quality of chromosomal preparation
      • Specimen collection: Incorrect or delayed collection may lead to culture failure or poor metaphase spreads
      • Technical limitations: G-banding technique has resolution of approximately 5-10 megabases; smaller deletions/duplications may not be detected
  • Associated Organs
    • Primary Systems Involved:
      • Central nervous system: Developmental delay, intellectual disability, seizures, neurological dysfunction
      • Hematopoietic system: Acute and chronic leukemias, lymphomas, myelodysplastic syndromes with chromosomal abnormalities
      • Cardiovascular system: Congenital heart defects, structural abnormalities associated with chromosomal syndromes
      • Genitourinary system: Gonadal dysgenesis, infertility, renal anomalies
      • Skeletal system: Growth abnormalities, skeletal dysplasias, short stature
    • Conditions Associated with Abnormal Results:
      • Down syndrome (Trisomy 21): Intellectual disability, hypotonia, characteristic facial features, cardiac defects, increased leukemia risk
      • Edwards syndrome (Trisomy 18): Severe developmental delay, multiple organ involvement, usually lethal by early infancy
      • Patau syndrome (Trisomy 13): Holoprosencephaly, cleft palate, polydactyly, cardiac defects, usually lethal
      • Turner syndrome (45,X): Short stature, gonadal dysgenesis, infertility, cardiac defects, renal abnormalities
      • Klinefelter syndrome (XXY): Infertility, reduced testosterone, tall stature, learning difficulties
      • 22q11 deletion (DiGeorge syndrome): Cardiac defects, cleft palate, thymic hypoplasia, hypocalcemia, immune deficiency
      • Chronic myeloid leukemia (Philadelphia chromosome): Increased white blood cells, splenomegaly, potential blast crisis
    • Potential Complications of Chromosomal Abnormalities:
      • Developmental complications: Intellectual disability, developmental delay, learning disorders
      • Reproductive complications: Infertility, increased miscarriage risk, risk of passing abnormalities to offspring
      • Medical complications: Organ dysfunction, increased infection risk, metabolic disorders
      • Cancer risk: Increased risk for certain malignancies (leukemia in Down syndrome, gonadal tumors in gonadal dysgenesis)
      • Psychosocial complications: Behavioral issues, psychiatric conditions, adjustment difficulties
  • Follow-up Tests
    • Confirmatory and Additional Genetic Testing:
      • Fluorescence in situ hybridization (FISH): For rapid detection of specific chromosomal abnormalities, especially in cancer diagnosis and prenatal testing
      • Chromosomal microarray analysis (CMA): To detect submicroscopic deletions and duplications not visible on G-banding; higher resolution than conventional karyotyping
      • Whole genome sequencing (WGS) or whole exome sequencing (WES): For comprehensive genomic analysis when rare variants or single-gene mutations are suspected
      • Parental karyotyping: When balanced translocation or low-level mosaicism detected to determine if inherited or de novo
      • Repeat karyotyping: On different tissue samples or at different time points to confirm mosaicism or detect clonal evolution in malignancies
    • Phenotype-Specific Testing:
      • Developmental assessment: Psychological and developmental testing for intellectual disability evaluation
      • Cardiac evaluation: Echocardiography for congenital heart defects in syndromes such as Down syndrome or 22q11 deletion
      • Auditory assessment: Hearing tests for syndromes associated with hearing loss
      • Ophthalmologic examination: Vision assessment for ocular abnormalities
      • Endocrine evaluation: Hormone levels for growth abnormalities or gonadal dysfunction
    • Cancer-Related Follow-up:
      • Flow cytometry: To detect abnormal cell populations and provide additional prognostic information in leukemias and lymphomas
      • Molecular studies (PCR, qPCR): To detect fusion genes (e.g., BCR-ABL) and monitor minimal residual disease (MRD)
      • Repeat karyotyping: At regular intervals during treatment to monitor for clonal evolution or treatment response
      • Spectral karyotyping (SKY): For complex karyotypes requiring detailed chromosome identification
    • Prenatal and Reproductive Follow-up:
      • Genetic counseling: For families with inherited chromosomal abnormalities or recurrent pregnancy losses
      • Prenatal diagnosis: Amniocentesis or chorionic villus sampling (CVS) for pregnancies at risk when parental translocation detected
      • Preimplantation genetic testing (PGT): For couples undergoing assisted reproduction to screen embryos before implantation
      • Monitoring frequency: Based on clinical indication (annual for solid tumors, ongoing during cancer treatment, as clinically indicated for genetic conditions)
  • Fasting Required?
    • Fasting: NO
    • Karyotyping does not require fasting; patient may eat and drink normally before specimen collection
  • Special Instructions and Patient Preparation:
    • Specimen collection requirements: Peripheral blood (most common for constitutional karyotyping), bone marrow, amniotic fluid, chorionic villus tissue, or other affected tissue
    • Sterile collection tube: Usually sterile tube with heparin, sodium citrate, or EDTA anticoagulant per laboratory protocol
    • Timing: Specimen should be processed promptly; delays may result in poor cell viability and inadequate cultures
    • Transport conditions: Most specimens should be transported at room temperature with appropriate culture medium; check with laboratory for specific requirements
    • Medications: No medications need to be withheld; however, recent blood transfusion or bone marrow transplant should be noted as may affect results
    • Patient information: Relevant clinical history, indication for testing, and family history should be provided to laboratory
    • Turnaround time: Typically 1-2 weeks for conventional karyotyping; extended analysis with >50 metaphase cells may require additional culture time
    • Tissue-specific considerations: Amniotic fluid or chorionic villus samples require rapid processing; bone marrow samples must be collected with appropriate anticoagulant

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