cytogenetics report # 1 patient name

It is the responsibility of the clinical scientist to provide a clear and unambiguous description of the cytogenetic findings and an explanation of the clinical implications of the results. The report will be inserted into the patient’s notes and may be seen, not only by the referring clinician, but also by other healthcare workers, some of whom may not have a clear understanding of cytogenetics. When writing a report it is important to remember that it may also be made available to the patient.

Full Answer

What is cytogenetic testing?

Cytogenetic testing is the examination of chromosomes to determine chromosome abnormalities such as aneuploidy and structural abnormalities. A normal human cell contains 23 pairs of chromosomes, including 22 pairs of autosomes and a pair of sex chromosomes (XX or XY).

How do you interpret a cytogenetic karyotype?

Receiving a cytogenetic report that contains the description of a patient's karyotype can create confusion, particularly if complex rearrangements or multiple clones are present. Interpretation of the description of a karyotype can be facilitated by breaking this description into its component parts.

What is a methodical approach to reporting cytogenetics?

A methodical approach to reporting with the use of universally recognized nomenclature will ensure that the diagnostic and prognostic information is presented in a form that is interpretable by both clinicians and other cytogeneticists. Cell Count Chromosome Aberrations Cytogenetic Analysis / methods*

How is cytogenetics used in prenatal care?

Cytogenetics can also be used during prenatal (before birth) tests. If a couple is struggling with infertility or has a chance of passing down a chromosome change that causes disease, doctors may find answers by performing a chromosome analysis of the amniotic fluid (liquid that surrounds a fetus).

What is the purpose of cytogenetics?

The purpose of cytogenetics is to study the structure and normal and pathological functioning of chromosomes (condensation, recombination, repair, segregation, transmission) and chromatin (organization and role in the regulation of gene expression).

What is cytogenetic diagnosis?

Cytogenetic testing involves the analysis of cells in a sample of blood, tissue, amniotic fluid, bone marrow, or cerebrovascular fluid to identify any changes in an individual's chromosomes. There are three major methods of cytogenetic testing: Routine karyotyping.

What is cytogenetics in pathology?

Cytogenetics is a branch of pathology and genetics concerned with the study of normal chromosomes and chromosome aberrations. Classical cytogenetics allows microscopic visualization of whole chromosomes in order to assess their number and structure.

How is cytogenetic analysis done?

Role of cytogenetic analysis Testing is performed using specimens containing viable cells such as peripheral blood, bone marrow, or tumor tissue. The cells are allowed to grow and divide, and then metaphase arrest is achieved using an inhibitor of microtubule elongation.

What is the importance of cytogenetic analysis?

Cytogenetic analysis is very crucial in the diagnosis of oncologic and hematologic disorders. It helps in the diagnosis and classification of disease as well as in planning treatment regimens and monitoring the status of disease.

What is cytogenetic lab?

The Cytogenetics Laboratory provides comprehensive testing services including: Chromosome analysis for prenatal samples, peripheral blood, bone marrow, lymphomas and solid tumors. FISH (fluorescence in situ hybridization) assays and many probes that are available only at the Mayo Clinic Cytogenetics Laboratory.

How long does it take to get cytogenetics results?

Preliminary results available in one to two weeks if requested; final results in 14-21 days (prenatal) or 30 days (pediatric)

How is a person or baby diagnosed with a chromosomal abnormality?

First trimester screening is a combination of tests completed between weeks 11 and 13 of pregnancy. It is used to look for certain birth defects related to the baby's heart or chromosomal disorders, such as Down syndrome. This screen includes a maternal blood test and an ultrasound.

What are the two main types of chromosomal disorders?

There are many types of chromosome abnormalities. However, they can be organized into two basic groups: numerical abnormalities and structural abnormalities.

What are 3 types of genetic testing?

What are the different types of genetic tests?Molecular tests look for changes in one or more genes. ... Chromosomal tests analyze whole chromosomes or long lengths of DNA to identify large-scale changes. ... Gene expression tests look at which genes are turned on or off (expressed) in different types of cells.More items...•

What diseases can be detected through genetic testing?

What Can Genetic Testing Find?cystic fibrosis.Tay-Sachs disease.sickle cell disease.Down syndrome.spina bifida.Turner syndrome.von Willebrand Disease.albinism.More items...

Why do we need cytogenetic testing?

Cytogenetic testing provides us with an opportunity to improve the management of congenital disorders, blood malignancies, and solid tumors. Parents can be counseled about expectations of a certain congenital disorder, review fetal and maternal risks, and even decide on the continuation of the pregnancy.

When can a cytogenetic test be performed?

A cytogenetic test can be obtained for fetal diagnostic testing as early as 10 weeks of gestation from chorionic villus sampling (CVS), using trophoblast cells or cultured mesenchymal cells. By analyzing cells cultured from amniotic fluid, false mosaicism detected on chorionic villus sampling can be eliminated.

What is karyotyping in biology?

Procedures. Karyotyping is one of the most preferred methods to detect structural and numerical abnormalities. Deletions, duplications, balanced or unbalanced translocations, insertions, and inversions are examples of structural abnormalities.

What is the risk of chorionic villi sampling?

While the percentage of complications in chorionic villi sampling is approximately 1%, the rate is lower (0.5%) in amniocentesis.

What are the most common inherited abnormalities?

Common inherited abnormalities include trisomies of chromosomes 13, 16, 18, or 21, and monosomy, triploidy, or tetraploidy of the X chromosome. Using the G-banding technique, the analysis of 20 metaphase-state cells is the preferred method for karyotyping. If mosaicism is suspected, 30 to 50 metaphases should be analyzed.

Where can fibroblasts be obtained?

Fibroblasts are the preferred material to obtain from the skin of the abortus. After birth, evaluation of fibroblasts or peripheral blood lymphocytes can be performed. For chromosomal microarray analysis (CMA), genomic DNA can be obtained from peripheral blood, skin fibroblasts, or amniocentesis.

Can femur length shortening cause trisomy 21?

While most of the findings in an ultrasound examination are insufficient to confirm a diagnosis, femur-length shortening and nuchal skin fold thickening can raise suspicion of trisomy 21. [8][2] Many studies indicate that the risk of trisomy 21, trisomy 18, and trisomy 13 increases with advanced maternal age.

What is cytogenetic fish?

Cytogenetics is the analysis of chromosomes as they relate to constitutional genetic disease and acquired cancer-related genomic abnormality. Constitutional genetic applications include pre-and post-natal diagnosis of genetic syndromes such as Down syndrome and investigation of causes of reproductive failure.

What is chromosome analysis?

Chromosome analysis involves the testing of blood, bone marrow, prenatal (amniotic fluid and chrionic villi) and other tissues for rearrangement, loss, gain and breakage for rearrangement, loss, gain and breakage of the metaphase chromosomes.

What is cytogenetic testing?

Cytogenetic testing provides information about a cell’s chromosomes (pieces of DNA). These tests can be used to diagnose different genetic diseases or different types of cancer. Cytogenetics can also be used during prenatal (before birth) tests. If a couple is struggling with infertility or has a chance of passing down a chromosome change ...

How to diagnose leukemia?

Cytogenetic tests are often an important part of a leukemia diagnosis. Leukemia is usually first diagnosed using other tests, including: 1 A physical exam, in which the doctor checks for leukemia signs and symptoms 2 A complete blood count (CBC), a test that measures the levels of each type of blood cell 3 A peripheral blood smear, in which a doctor closely examines blood cells under a microscope to look for abnormalities 4 Bone marrow tests, in which a small sample of cells is taken from the bone marrow (tissue inside of certain bones) to look for cancer cells there

How does a pathologist know where the probe is located?

The pathologist can look at the chromosomes under a microscope and see where the probe is located.

How to find out if a couple has leukemia?

If a couple is struggling with infertility or has a chance of passing down a chromosome change that causes disease, doctors may find answers by performing a chromosome analysis of the amniotic fluid (liquid that surrounds a fetus). Cytogenetic tests are often an important part of a leukemia diagnosis.

What test is used to determine if you have leukemia?

If these tests confirm that you have leukemia, your doctor will usually want to use cytogenetic tests to learn more about a cell’s chromosomes. This information helps your doctor diagnose what subtype ...

What is CBC test?

A physical exam, in which the doctor checks for leukemia signs and symptoms . A complete blood count (CBC), a test that measures the levels of each type of blood cell. A peripheral blood smear, in which a doctor closely examines blood cells under a microscope to look for abnormalities.

What is a karyotype test?

A karyotype test forms a picture of all of a cell’s chromosomes. During karyotyping, cells are taken from a blood or bone marrow sample and stained with special dyes. Then pictures are taken of the cells under a microscope. This process is performed by a pathologist, a geneticist, or a cytogenetics technician.

What is cytogenetic report?

Receiving a cytogenetic report that contains the description of a patient's karyotype can create confusion, particularly if complex rearrangements or multiple clones are present. Interpretation of the description of a karyotype can be facilitated by breaking this description into its component parts.

What does idem mean in cloning?

If abnormalities present in the first clone listed are also present in others, the description can be simplified by using the abbreviation "idem" to indicate this; note that idem always refers to the first cell line described, which will be the stemline in these cases .

How many chromosomes are in the first clone?

The slashes, brackets, and listings of number of chromosomes tell us that three different clones are present: Of the 20 cells examined, the first clone has 47 chromosomes and is represented by 4 cells. The second clone has 48 chromosomes; 12 of these cells were observed. Finally, four normal 46,XY cells are present.