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Karyotyping + QF-PCR for AneuCare Gold
Karyotyping + QF-PCR for AneuCare Gold
Karyotyping + QF-PCR for AneuCare Gold
| Test Code | ANI006 |
|---|---|
| Test Summary | Karyotyping - Provides holistic picture of the 23 pairs of chromosome allowing simultaneous examination of all chromosomes. Quantitative Fluorescent-Polymerase Chain Reaction (QF-PCR) is a laboratory technique used to amplify specific regions of DNA and quantify the amount of DNA present in those regions. |
| Turn Around Time | 15 days |
| Acceptable Sample Types | Amniotic Fluid , Chorionic Villi |
| NY Approved | No |
| Accreditations | CAP , ISO 15189 (NABL) |
**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 information
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
Quantitative Fluorescence PCR (QF-PCR) is a molecular-based technique employed for prenatal and postnatal diagnosis of rapid aneuploidy detection(RAD) of chromosomes 13, 18, 21, X, and Y.A technique based on the amplification of chromosome-specific DNA sequences (STR, short tandem repeats) polymorphic in length, is used to determine the presence of different alleles. Employing fluorescent primers, the amplified segments can be visualized and quantified as peak areas on automated DNA scanners. QF-PCR is rapid, cost-effective, almost entirely automated, small sample size with high accuracy, and can detect most abnormalities diagnosed by conventional karyotyping.
Indications for testing
Karyotyping
- Abnormal fetal ultrasound and presenceof soft markers like hypoplastic nasalbone, Increased NT, Echogenic bowel etc.
- Maternal serum screening positive forchromosome aneuploidies
- NIPT positive for chromosomeaneuploidies
- Parental chromosomal rearrangement ormosaicism
- Previous history of recurrent miscarriages
- Previous fetus/baby with chromosomalabnormality
QFPCR
- Abnormal fetal ultrasound and presenceof soft markers like hypoplastic nasalbone, Increased NT, Echogenic bowel etc.
- Maternal serum screening positive forchromosome aneuploidies
- NIPT positive for chromosomeaneuploidies
- Parental chromosomal rearrangement ormosaicism
- Previous history of recurrent miscarriages
- Previous fetus/baby with chromosomalabnormality
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
FISH
- Screening result suggests aneuploidy
- Advanced maternal age
- One major or at least two minor fetal structural defects found on ultrasound
- Previous fetus or child with aneuploidy
- Parent of this pregnancy has a structural chromosome abnormality (e.g.,translocation, inversion) involving chromosome 21, 13, 18, X, or Y
- Parent of this pregnancy has an extra chromosome (e.g., Down syndrome, XXX syndrome, Klinefelter syndrome)
Test methods and limitations
Karyotyping - Chromosomal Analysis / Light Microscopy
QF PCR analysis includes amplification, detection and analysis of chromosome-specific DNA sequences known as genetic markers or small tandem repeats (STRs).
Detailed sample requirements
Chorionic Villi
| Collection Container(s) |
EDTA (Purple Top) or ACD (Yellow Top) |
|---|---|
| SPECIAL SAMPLE INSTRUCTIONS |
Please contact a Revvity Omics Laboratory genetic counselor for information on prenatal test requests and acceptable sample types. |
Amniotic Fluid
| SPECIAL SAMPLE INSTRUCTIONS |
Please contact a Revvity Omics Laboratory genetic counselor for information on prenatal test requests and acceptable sample types. |
|---|
How To Order
Choose Your Test
Select the correct test for your patient, and download and fill out the Clinical Genomics test requisition form.
Collect Sample
Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs.
Send Samples
Send samples and all required forms back to Revvity for processing using pre-paid shipping label.
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