Karyotyping
During the process of karyotyping, all chromosomes found in the cells are paired and arranged in order, providing a comprehensive view of an individual's chromosomal makeup. Karyotypes are typically produced using staining techniques that highlight the characteristic structural features of each chromosome.
Cytogenetic testing can reveal large-scale genetic abnormalities—typically affecting millions of base pairs. These include changes in chromosome number (aneuploidies), such as trisomy 21 (Down syndrome).
What Karyotyping Can Detect
- Changes in chromosome number (aneuploidies)
- Trisomy 21 (Down syndrome) and other trisomies
- Deletions (missing chromosome segments)
- Duplications (extra chromosome segments)
- Translocations (chromosomal rearrangements)
- Inversions (reversed chromosome segments)
Clinical Applications
- Investigating causes of infertility
- Analyzing recurrent miscarriages
- Diagnosing developmental disorders
- Identifying chromosomal abnormalities in carriers
- Pre-conception genetic counseling
- Family planning assessment
New Option: Microarray-based Karyotyping (CMA)
Chromosomal Microarray Analysis (CMA) is now available in our clinic. It offers much higher resolution than classical karyotyping and can detect chromosomal imbalances—i.e., missing or extra genetic material (copy number variations, CNVs).
CMA analyzes the entire genome in a single test and can detect smaller changes that traditional methods miss. The method is more sensitive to subtle structural abnormalities, thus increasing diagnostic accuracy, especially in complex infertility or developmental cases.
Who Should Consider This Test?
- Any couple planning to have children—either now or in the near future
- Individuals with a family history of genetic disorders
- Couples experiencing unexplained infertility
- Women with recurrent pregnancy loss
- Parents of children with developmental delays
- Individuals seeking comprehensive genetic screening
How The Test Is Performed
- Simple blood draw procedure
- Sample analysis in specialized cytogenetics lab
- Chromosomes categorized by size and band patterns
- Results recorded in detailed image form
- Comprehensive genetic counseling provided
- Results typically available in 2–4 weeks
Genetic Carrier Screening
Carrier screening is a test that can detect thousands of genetic mutations linked to hundreds of severe autosomal recessive or X-linked disorders (e.g., cystic fibrosis, spinal muscular atrophy, sensorineural hearing loss, thalassemia, or sickle cell anemia).
The test helps prospective parents find out if they carry mutations in any of the genes analyzed, and therefore what the chances are that their child might inherit a genetic disorder.
Up to 80% of individuals tested in carrier screening are found to carry a mutation linked to a genetic condition. This doesn't mean they are affected themselves, but if their partner is a carrier of the same gene, there is a risk their child may be affected.
Conditions Detected by Carrier Screening
- Cystic fibrosis
- Spinal muscular atrophy
- Sensorineural hearing loss
- Thalassemia
- Sickle cell anemia
- Hundreds of other autosomal recessive disorders
- X-linked genetic conditions
Understanding Your Risk
- Up to 80% of people carry at least one genetic mutation
- Carriers are typically not affected by the condition
- Risk exists when both partners carry the same gene mutation
- 25% chance of affected child if both parents are carriers
- Genetic counseling available for all results
- Preventive options discussed when risks are identified
How The Test Is Performed
- Simple blood sample collection
- Ideally performed before starting fertility treatment
- Comprehensive analysis of thousands of genetic mutations
- Advanced laboratory testing techniques
- No special preparation required
- Can be done during routine consultation
Results and Follow-up
- Results available in 3–5 weeks after blood draw
- Detailed genetic counseling for all patients
- Risk assessment for future pregnancies
- Discussion of preventive options when needed
- Family planning guidance provided
- Partner testing recommended when indicated
Comprehensive Genetic Testing for Informed Family Planning
Our advanced genetic testing services, including karyotyping and carrier screening, provide essential information for couples planning their future families, ensuring the best possible outcomes through early detection and prevention.
