Karyotype
A reliable structural and numerical chromosomal aberrations with karyotyping test
Revvity Omics laboratory is equipped with industry leading expertise to identify even subtle chromosomal abnormalities through its karyotyping test. This test can be conducted on a diverse range of sample types, such as peripheral blood, bone marrow, amniotic fluid, chorionic villus sample, fetal blood, and skin fibroblast among others.
The results are carefully analyzed based on the provided indications and provide valuable insights into the prognosis and risk assessment of chromosomal structural or numerical disorders.
Preconception indications for karyotype
- Primary or secondary amenorrhea, PCOD, ovarian insufficiency
- Ambiguous genitalia
- Infertility of unknown etiology
- Hypogonadism, gynecomastia in males
- Male factor infertility
- A malformed fetus or stillbirth of unknown etiology
- Previous baby/fetus with chromosomal abnormality
- Significant familial history of chromosome rearrangements
- Recurrent miscarriages
- Babies with birth defects, dysmorphism, mental retardation, developmental delay or having features suggestive of chromosome disorder
Prenatal indications for karyotype
- Abnormal fetal ultrasound and presence of 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 chromosomal abnormality
References
1. Marisa et al., European guidelines for constitutional cytogenomic analysis. European Journal of Human Genetics (2019) 27:1–16
2. Ros Hastings et al., General Guidelines and Quality Assurance for Cytogenetics. EUROPEAN CYTOGENETICISTS ASSOCIATION NEWSLETTER No. 29 January 2012
Testing options
Karyolite BoBs
(1)
Karyotyping Only
(4)
Karyotyping with FISH Analysis on Amniotic Fluid
(10)
Karyotyping with FISH Analysis on Chorionic Villi
(7)
Karyotyping with FISH Analysis on Cord Blood
(7)
Karyotyping with FISH Analysis on Fetal Blood
(7)
Karyotyping with FISH Analysis on Product of Conception
(7)
Karyotyping with FISH Analysis on Venous Blood
(9)
Karyotyping with QF-PCR
(1)
How to order
Step 1
Test selection and place order
Step 2
Specimen collection and shipment
Step 3
Get results
How to order
1. Choose your test
Select the correct test for your patient, and fill out the General Test Requisition Form.
- Please make sure that all sections are completed, and that the patient has signed an informed consent form.
2. Collect a sample
Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs.
- Ensure that the patient sample is labeled with the patient’s name and date of birth.
3. Send a sample
Package the patient sample, informed consent form, and test requisition form back into the test kit, and utilize the included pre-paid shipping label to return the kit to Revvity Omics for processing.
- We ask that you kindly include any applicable medical records or clinical notes with the sample at the time of test submission.
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. The content on this page is provided for informational purposes only, not as medical advice. It is not intended to substitute the consultation, diagnosis, and/or treatment provided by a qualified licensed physician or other medical professionals.