Karyotyping for Chromosomal Breakage Studies Fanconis Anaemia

Omics test Model
Test Code KT0014
Test Summary Karyotyping - Provides holistic picture of the 23 pairs of chromosome allowing simultaneous examination of all chromosomes.
Turn Around Time 15 days
Acceptable Sample Types Amniotic Fluid , Fetal Blood
NY Approved No
Accreditations CAP , ISO 15189 (NABL)
*TAT starts after the sample and all required sample information is received at the processing laboratory.

**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.

This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.
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Test Code: KT0014
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Test Description

A karyotype test is a type of genetic testing. It looks at the size, shape, and number of chromosomes in a sample of cells from your body. Chromosomes are found in the cell nucleus, which is like the command center of a cell. Chromosomes contain your genes. Genes carry information, called DNA, that controls what you look like and how your body works.You inherit your chromosomes from your parents. Normally, all your cells (except for egg and sperm cells) have a set of the same 46 chromosomes. The chromosomes are grouped into 23 pairs. Each pair has two chromosomes, one coming from each parent. You may develop certain genetic disorders if your cells:

  • Are missing whole chromosomes or pieces of chromosomes
  • Have extra chromosomes or extra pieces of chromosomes

Indications for Testing

Karyotyping

  • Abnormal fetal ultrasound and presenceof soft markers like hypoplastic nasal bone, Increased NT, Echogenic bowel etc.
  • Maternal serum screening positive for chromosome aneuploidies
  • NIPT positive for chromosome aneuploidies
  • Parental chromosomal rearrangement or mosaicism
  • Previous history of recurrent miscarriages
  • Previous fetus/baby with chromosoma abnormality

Condition Description

Karyoytyping

A karyotype test looks for unusual changes in chromosomes. It may be used to:

  • Check an unborn baby for chromosome problems
  • Check you and/or your family members for specific chromosome problems if you:
    • Have a genetic disorder that runs in your family
    • Have symptoms that may be from a genetic disorder
  • Find out if abnormal chromosomes are causing problems having children, including:
    • Male or female infertility
    • Miscarriages, if you have lost two or more pregnancies before 20 weeks
    • Stillbirth
    • Help diagnose and/or make treatment decisions for certain types of cancer and blood disorders

Test Methods and Limitations

Karyotyping - Chromosomal Analysis / Light Microscopy

Detailed Sample Requirements

Amniotic Fluid
Test Details Page
Special Sample Instructions Please contact a Revvity Omics Laboratory genetic counselor for information on prenatal test requests and acceptable sample types.