jamunjar-logo
whatsapp
cartmembermenu
Search for
"test & packages"
"physiotherapy"
"heart"
"lungs"
"diabetes"
"kidney"
"liver"
"cancer"
"thyroid"
"bones"
"fever"
"vitamin"
"iron"
"HTN"

Karyotyping - Blood (Wife)

Genetic
image

Report in 720Hrs

image

At Home

nofastingrequire

No Fasting Required

Details

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

₹2,499₹4,400

43% OFF

Karyotyping - Blood (Wife)

  • Why is it done?
    • Evaluates the complete set of chromosomes to detect numerical and structural abnormalities that may affect fertility or pregnancy outcomes
    • Identifies chromosomal disorders such as trisomies (Down syndrome, Edwards syndrome, Patau syndrome) and monosomies that may cause recurrent miscarriages or infertility
    • Detects structural rearrangements such as balanced translocations, inversions, or deletions that may impact reproductive success
    • Ordered as part of infertility workup, particularly in cases of recurrent miscarriage or unexplained infertility
    • Recommended prior to assisted reproductive techniques (ART) or in vitro fertilization (IVF) to assess reproductive potential
    • May be performed when family history suggests chromosomal abnormalities or genetic disorders
  • Normal Range
    • Normal Karyotype: 46,XX (46 chromosomes with two X chromosomes in females)
    • Unit of Measurement: Chromosomal notation (number and morphology)
    • Normal Result Interpretation: No chromosomal abnormalities detected; all 46 chromosomes present with normal structure and number
    • Abnormal Result Interpretation: Presence of extra, missing, or rearranged chromosomes indicating genetic disorder or carrier status
    • Borderline/Mosaic Results: May indicate presence of two or more cell lines with different karyotypes, requiring further investigation
  • Interpretation
    • Normal Results (46,XX): No chromosomal abnormalities present; normal female karyotype with normal reproductive potential
    • Trisomy Results (e.g., 47,XX,+21): Extra chromosome detected; may indicate Down syndrome if present in all cells or contribute to recurrent miscarriage
    • Monosomy Results (e.g., 45,X): Missing chromosome detected; Turner syndrome or variants that may cause infertility or pregnancy complications
    • Balanced Translocation (e.g., 46,XX,der(13;14)(q10;q10)): Chromosomal material rearranged but no genetic material lost; carrier status with increased risk of unbalanced offspring or miscarriage
    • Inversion Results (e.g., 46,XX,inv(9)): Segment of chromosome reversed; may have reduced fertility or increased miscarriage risk depending on type and size
    • Deletion Results (e.g., 46,XX,del(5p)): Missing chromosomal segment; may cause reproductive failure, congenital abnormalities, or developmental disorders
    • Mosaic Karyotype (e.g., 46,XX/47,XX,+21): Different cell populations with different chromosome numbers; may indicate mosaicism with variable clinical expression
    • Factors Affecting Results:
    • Cell culture quality and ability to obtain adequate metaphase cells
    • Band resolution (banding technique used may affect detection of small abnormalities)
    • Presence of mosaicism affecting detection sensitivity
    • Sample quality and timing of processing
  • Associated Organs
    • Primary Systems Affected:
    • Reproductive system (ovaries, fallopian tubes, uterus) - affecting fertility and pregnancy outcomes
    • All body systems (chromosomal abnormalities affect entire organism)
    • Associated Medical Conditions:
    • Down syndrome (Trisomy 21) - intellectual disability, congenital heart disease, recurrent miscarriages
    • Edwards syndrome (Trisomy 18) - severe developmental abnormalities, often lethal in utero or shortly after birth
    • Patau syndrome (Trisomy 13) - severe intellectual and physical abnormalities, high rate of miscarriage
    • Turner syndrome (45,X or variants) - infertility, short stature, cardiac abnormalities, webbed neck
    • Balanced translocation carrier status - increased risk of recurrent miscarriage and chromosomally unbalanced offspring
    • Recurrent pregnancy loss/miscarriage - may be due to chromosomal abnormalities in one partner
    • Infertility (primary or secondary) - chromosomal abnormalities may impair fertility
    • Potential Complications with Abnormal Results:
    • Reduced fertility and difficulty conceiving naturally
    • Increased risk of chromosomally abnormal embryos and miscarriage
    • Birth of child with genetic disorder requiring lifelong medical management
    • Need for advanced reproductive techniques such as preimplantation genetic diagnosis (PGD)
    • Psychological impact of carrier status and reproductive counseling needs
  • Follow-up Tests
    • If Normal Results:
    • Hormonal assessment (FSH, LH, prolactin, thyroid function) if infertility is the primary concern
    • Pelvic ultrasound to assess reproductive anatomy
    • Semen analysis and male partner karyotyping if not previously performed
    • Proceed with fertility treatment if appropriate (IVF, IUI, or other assisted reproductive techniques)
    • If Abnormal Results Detected:
    • Fluorescence in situ hybridization (FISH) - for confirmation of specific chromosomal abnormalities
    • Chromosomal microarray (array CGH) - to detect submicroscopic deletions/duplications
    • Genetic counseling - to understand implications and reproductive options
    • Parental karyotyping - to determine if abnormality is inherited or de novo
    • Preimplantation genetic diagnosis (PGD) - if pursuing IVF with genetic screening
    • Prenatal testing options - noninvasive prenatal testing (NIPT), amniocentesis, or chorionic villus sampling (CVS) for future pregnancies
    • Complementary/Related Tests:
    • Partner/spouse karyotyping - essential for counseling and reproductive decision-making
    • Fetal karyotyping - if abnormality detected and pregnancy established
    • Fragile X testing - if intellectual disability or developmental delay suspected
    • Carrier screening for other genetic disorders as appropriate
    • Monitoring Frequency:
    • One-time test typically performed; repeat testing not usually necessary unless sample quality was inadequate
    • Ongoing genetic counseling recommended for carriers of structural abnormalities prior to conception
    • Periodic reassessment as reproductive plans change
  • Fasting Required?
    • Fasting Required: No
    • Patient Preparation:
    • No special dietary restrictions required
    • Regular meals and hydration are permissible and recommended
    • Medications may be continued normally; inform laboratory of all current medications and supplements
    • No special timing requirements; test can be performed at any time of day
    • Some laboratories prefer samples collected in morning; check with specific laboratory for preferences
    • Sample Collection:
    • Peripheral blood sample collected via venipuncture into sterile tube with culture medium (typically EDTA or sodium heparin tube)
    • No significant discomfort associated with sample collection
    • Sample processing typically requires 7-14 days for cell culture and analysis
    • Contraindications or Cautions:
    • Recent blood transfusion or organ transplant may affect results; inform laboratory if applicable
    • Active infection or fever may require test postponement; consult with physician
    • No other special precautions or restrictions needed

How our test process works!

customers
customers