Lab Test

Myelodysplastic Syndrome (MDS) -1

Myelodysplastic Syndrome (MDS) is a group of disorders characterized by poorly formed blood cells or blood cells that do not function properly. The test termed as MDS-1, which includes Karyotyping and FISH for trisomy 8, del7q, del5q, del20q, Monosomy 7, and Monosomy 5, is a specialized genetic testing approach designed to detect chromosomal abnormalities associated with MDS.

  • Profile Name: Myelodysplastic Syndrome (MDS) -1
  • Sample Type: Blood or Bone Marrow
  • Preparations Required: No special preparation is required for this test.
  • Report Time: 12 Days for Karyotype & 5 Days for FISH

Myelodysplastic Syndrome (MDS) involves a heterogeneous group of bone marrow disorders, characterized by ineffective production of blood cells, leading to blood cytopenias (low blood cell counts). Chromosomal abnormalities are a hallmark of MDS and are used in diagnosis and prognosis.

Karyotyping is a traditional method that involves the study of an individual’s chromosomes. This test provides a broad overview of chromosomal abnormalities. Fluorescence In Situ Hybridization (FISH) is a more targeted approach, using fluorescent probes to detect specific chromosomal abnormalities. MDS-1 test combines both Karyotyping and FISH to detect trisomy 8, del7q, del5q, del20q, Monosomy 7, and Monosomy 5 - chromosomal abnormalities that are often seen in patients with MDS.

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Reporting of the sample at lab
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Frequently Asked Questions

MDS-1 is a genetic test that combines Karyotyping and Fluorescence In Situ Hybridization (FISH) to detect specific chromosomal abnormalities commonly associated with Myelodysplastic Syndrome (MDS). These abnormalities include trisomy 8, del7q, del5q, del20q, Monosomy 7, and Monosomy 5.

The MDS-1 test is important for the diagnosis and prognosis of Myelodysplastic Syndrome (MDS). Identifying chromosomal abnormalities can help doctors understand the severity of the disease and guide the choice of treatment.

Blood or bone marrow is collected from the patient. In the laboratory, the chromosomes are stained and analyzed under a microscope (Karyotyping). The sample is then treated with fluorescent probes that bind to specific chromosomal regions, which are viewed under a fluorescence microscope (FISH).

No special preparation is needed for this test. However, it's crucial to inform your doctor of any medications or supplements you are taking.

The results of the MDS-1 test can indicate the presence of chromosomal abnormalities associated with MDS. The type and combination of abnormalities can give insight into the severity and prognosis of the disease.

The results are generally reliable, but interpretation should be done by a specialist who has experience with genetic testing and MDS.

Karyotyping provides a broad overview of chromosomal abnormalities, while FISH is more targeted and sensitive for specific chromosomal changes. Combining these tests provides comprehensive information for the diagnosis and management of MDS.

Can the MDS-1 test be done during treatment for MDS?

If your test results are abnormal, it's essential to consult a hematologist or oncologist who specializes in the treatment of blood disorders and cancers.

The frequency of MDS-1 testing depends on various factors including the stage of MDS, the ongoing treatment, and doctor's recommendation. Your doctor will guide you on how often you should get tested.

No, not all cases of MDS are associated with the chromosomal abnormalities tested in MDS-1. It is one part of a broader diagnostic workup for MDS.

Technical issues, sample quality, and recent treatments such as chemotherapy or bone marrow transplants can affect the results.

The risks are minimal and are mainly associated with the blood or bone marrow collection procedure. There might be slight pain or bruising at the site of needle insertion.

If chromosomal abnormalities are detected, your doctor will discuss the results with you and suggest a treatment plan which may include chemotherapy, blood transfusions, or stem cell transplantation.

In the context of chromosomes, "del" refers to deletion, which is the loss of a part of a chromosome. "Trisomy" refers to having three copies of a chromosome instead of the usual two.

Understanding the genetic basis of Myelodysplastic Syndrome (MDS) through tests like MDS-1 provides essential information that can aid in the precise diagnosis and management of the condition. Through the combination of Karyotyping and FISH for multiple chromosomal abnormalities, MDS-1 offers a comprehensive genetic assessment for MDS. If you or a loved one has been diagnosed with MDS or are exhibiting symptoms, consult your doctor to understand if MDS-1 testing is appropriate for you. The insights gained through this testing can be invaluable in devising a personalized treatment plan.

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