Karyotyping – Genetic Disorder Test in Kathmandu

About this test

Karyotyping is a cytogenetic test that photographs and arranges all 46 of your chromosomes into their 23 numbered pairs so we can check their number, size and structure under the microscope. To do this the laboratory grows your living cells in culture for several days, halts them at the stage of division when chromosomes are most visible, stains them with characteristic banding, and then counts and lines them up. This is why the result honestly takes around two weeks — the cells must be coaxed to divide before they can be read. The study detects whole-chromosome abnormalities such as Down syndrome (trisomy 21), Edwards and Patau syndromes, Turner syndrome (a single X in girls) and Klinefelter syndrome (XXY in boys), as well as larger structural changes like translocations, deletions, duplications and inversions. Doctors in Kathmandu commonly order it for a newborn with multiple birth defects or ambiguous genitalia, a child with delayed milestones or unexplained learning difficulty, a couple investigating recurrent miscarriages or long-standing infertility, a young woman whose periods never started, and as part of confirmatory testing after an abnormal antenatal screen. It is frequently interpreted alongside the clinical picture, ultrasound findings, hormone levels and, increasingly, more targeted molecular tests such as FISH or microarray when a specific submicroscopic change is suspected. A normal karyotype is reassuring, while an abnormal one allows precise genetic counselling for the patient and the wider family. Please discuss the report with your physician or a genetic counsellor, who will place it in the context of your own and your family's history.

Sample type

Whole blood (sodium heparin)

Preparation

No fasting required. Inform us if you have had a recent blood transfusion or are on chemotherapy, as both can affect the result. For a prenatal study we use amniotic fluid or chorionic villus sampling collected by your obstetrician rather than blood.

Turnaround time

Reports for Karyotyping – Genetic Disorder are typically ready within: 14 Days. Reports can be collected at the clinic during opening hours or shared via WhatsApp once they are ready.

Also known as

Other pathology tests we run

These are routinely ordered alongside Karyotyping – Genetic Disorder or as part of the same diagnostic workup.

How to book

WhatsApp is the fastest way — message us with the test name and your preferred time, and we'll confirm a slot the same day. You can also walk into the clinic at Rumba Chowk, Sanobharang any day between 7AM and 8PM, or fill in our online booking form.