Karyotype

Understand chromosomal changes that impact your health

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What is Karyotype?

A karyotype is a complete visual representation of an individual's chromosomes. Its analysis provides a detailed picture of all 46 human chromosomes, allowing it to detect abnormalities in their number, size, shape, and arrangement. Variation in the structure can result in deletion, duplication, translocation or aneuploidy of the genetic material resulting in genetic defects.

What Genetic Conditions Can KT Diagnose?

  • Numerical abnormalities: Turner syndrome (45,X), Klinefelter syndrome (47,XXY), and trisomies affecting fertility and pregnancy.
  • Structural changes: Translocations, inversions, deletions, and duplications linked to recurrent pregnancy loss or birth defects.
  • Carrier status: Balanced rearrangements in asymptomatic parents that may lead to unbalanced chromosomes in children.
  • Prenatal diagnosis: Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), and Patau syndrome (Trisomy 13).

Who can consider testing ?

  • Families with a history of chromosomal abnormalities or genetic disorders
  • Couples experiencing recurrent miscarriages (two or more consecutive pregnancy losses)
  • Individuals with unexplained infertility or repeated IVF failures
  • Prenatal screening and USG showing fetal abnormalities
  • Men with severe oligospermia or azoospermia (low or absent sperm count)

Test Specification

Methodology

High-resolution G-banding with metaphase chromosome analysis

Resolution

Detects abnormalities at > 400-band resolution (deletions/duplications >5 Mb)

Analysis

20–30 metaphase spreads

Sample type

Blood in Heparin tube/AF/CVS

Turnaround

Results within 14 days

Reporting

ISCN-compliant comprehensive reports

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Why choose OneDNA

Comprehensive Coverage

Comprehensive testing across both molecular and cytogenetic platforms

Accredited Laboratories

NABL & CAP accredited lab

Support & Care

End-to-end support including genetic counselling and report guidance.

Early & Accurate

High accuracy with advanced technologies and stringent quality controls

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Frequently Asked Questions

It can identify: Down syndrome Turner syndrome Klinefelter syndrome Structural chromosome abnormalities (like deletions or duplications)

It is highly reliable for detecting large chromosomal abnormalities, but: It may not detect very small genetic changes Sometimes additional tests (like NGS or microarray) are recommended

No special preparation required. You can eat and go about your day normally.

No, it mainly detects chromosomal level issues, not all gene level mutations.

Yes, especially if there are: Developmental delays Learning disabilities Physical abnormalities

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