Test Details
Purpose of the Test
- Detect any increase or decrease in the number of chromosomes.
- Diagnose genetic disorders resulting from chromosomal changes.
- Assist in evaluating causes of infertility in men and women.
- Contribute to diagnosing causes of recurrent miscarriage.
- Assist in diagnosing certain developmental disorders and congenital abnormalities.
Test Method
- Sample Type: Venous blood sample.
- Preparation: Does not require fasting or special preparation.
- Testing Mechanism: Cells are cultured and then chromosomes are examined using cytogenetic analysis techniques.
- Results Turnaround Time: Typically 10 to 21 business days.
What Does the Test Detect?
Karyotype analysis helps detect:
- Down Syndrome.
- Turner Syndrome.
- Klinefelter Syndrome.
- Sex chromosome disorders.
- Cases of deletion, translocation, or inversion of chromosome segments.
- Some genetic causes of infertility and recurrent miscarriage.
When Is the Test Recommended?
A physician may recommend karyotype analysis in the following cases:
- Delayed conception or infertility.
- Recurrent miscarriage.
- Family history of genetic diseases.
- Suspected chromosomal disorders in children or adults.
- Developmental delay or intellectual disability of unknown cause.
- Evaluation of certain pregnancy cases according to physician recommendation.
Results and Recommendations
The analysis provides a report showing the number and structure of chromosomes, indicating any chromosomal changes that may affect health or fertility. The physician interprets the results and correlates them with the clinical condition, and may recommend additional genetic testing or consultation with a genetics specialist when needed.
Key Benefits
- Assists in early diagnosis of genetic disorders.
- Contributes to identifying causes of infertility and recurrent miscarriage.
- Supports appropriate medical decision-making before pregnancy or during follow-up of certain cases.
- Provides accurate genetic information that helps establish an appropriate treatment or follow-up plan.
Test Duration
Results Turnaround Time: 10 to 21 business days, and may vary depending on the nature of the sample and laboratory procedures.
