Karyotype

A karyotype test is a vital genetic analysis used to examine the chromosomes in a person's cells, providing crucial insights into genetic health. This test evaluates the number, size, shape, and structure of chromosomes, helping to identify genetic disorders that can impact health, fertility, and development. It is particularly useful for diagnosing conditions like Down syndrome, which involves an extra chromosome 21, and structural abnormalities such as deletions or translocations. For individuals facing fertility challenges, the test can reveal chromosomal issues affecting conception or pregnancy. During pregnancy, karyotype testing, often through procedures like amniocentesis or chorionic villus sampling, can detect genetic disorders in the fetus, aiding in informed decision-making. The process involves collecting cell samples, growing them in a lab, and analyzing them under a microscope to construct a visual representation of the chromosomes. While generally safe, the test carries some procedural risks, underscoring the importance of genetic counseling and informed discussions with healthcare providers.

Price of test:£1,023

The lowest price from the last 30 days: £1,023

Awaiting result:

42 days

Collect material:

Blood

Prepare:

Learn more

Purpose of the test

A karyotype test is a vital genetic analysis used to examine chromosomes in cells, offering insights into genetic disorders and abnormalities. Its objectives include:

- Identifying Genetic Disorders: Detects chromosomal abnormalities like Down syndrome and structural changes, aiding in diagnosing developmental delays and birth defects.
- Fertility Issues: Provides insights into chromosomal causes of infertility, guiding treatment options.
- Prenatal Testing: Assesses genetic disorders in fetuses, crucial for older mothers or those with a family history of genetic issues.

Performed via blood tests, amniocentesis, or buccal swabs, it reveals chromosome number and structure, aiding in diagnosis and informed decision-making.

Who Should Get Tested

A karyotype test is essential for identifying genetic disorders and abnormalities. It evaluates chromosomes to diagnose conditions affecting health and fertility. Key groups who may need this test include:

- Individuals with Genetic Disorders: Detects chromosomal abnormalities like Down syndrome.
- Couples Facing Fertility Issues: Identifies chromosomal causes affecting conception.
- Pregnant Women: Especially those over 35 or with a family history of genetic disorders.
- Cancer Patients: Bone marrow tests can reveal chromosomal changes linked to certain cancers.

The test involves collecting cell samples, which are analyzed to reveal chromosomal information.

Blood Test Preparation Guidelines

Time of day

It is recommended to schedule your appointment for blood tests in the morning hours between 7:00-10:00.

Fasting

It is recommended to fast for approximately 12 hours before blood sampling. The last meal of the previous day should ideally be consumed around 6:00 p.m. On the day before the test, avoid heavy and fatty meals as well as alcohol.

Stay hydrated

Drinking water prior to testing can help with sample collection.

Other factors

Tests should not be performed after a sleepless night or intense physical activity. It is recommended to avoid exercise and stress immediately before blood collection and to not smoke. A short rest is recommended.

Medications and supplements:

Blood samples should be collected before the morning dose. Some drugs can interfere with test results. Consult with your doctor whether you can delay your dose because of lab tests.

Biotin supplements:

High doses of biotin supplements can affect test results, causing false elevation or reduction. It's recommended to avoid taking biotin for at least 72 hours before blood collection. If you are taking biotin, inform the personnel collecting the blood so that they can provide specific instructions.

Interpreting Test Results

Understanding test results from a karyotype test is crucial for interpreting genetic health. Here's a brief guide:

- Normal Results: Typically show 46 chromosomes in 23 pairs.
- Abnormal Results: May indicate genetic conditions like:
- Down Syndrome: Extra chromosome 21
- Turner Syndrome: Missing X chromosome
- Klinefelter Syndrome: Extra X chromosome
- Implications: Abnormalities can affect health, fertility, and prenatal development.
- Next Steps: Consult with a healthcare provider or genetic counselor to understand the results and explore potential treatments or interventions.

Price of test:£1,023

The lowest price from the last 30 days: £1,023

AI-Powered Insights and Expert Validation

Advanced AI Interpretation

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Language Model and Trusted Sources

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