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Karyotype


A reliable structural and numerical chromosomal aberrations with karyotyping test

karyotype

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)
Test of KaryoLite BoBs
Test Code KB
Turn Around Time 10 days
Karyotyping Only (4)
Karyotyping
Test Code KT0001
Turn Around Time 15 days
Karyotyping with High Resolution Banding
Test Code KT0002
Turn Around Time 15 days
Test of Chromosome Karyotype Analysis
Test Code HR
Turn Around Time 11 - 14 days
Karyotyping with FISH Analysis on Amniotic Fluid (10)
Karyotyping with FISH Analysis on Chorionic Villi (7)
Karyotyping & FISH for 22q Microdeletion
Test Code FCV01C
Turn Around Time 15 days
Karyotyping & FISH for Chromosome 13
Test Code FCV04C
Turn Around Time 15 days
Karyotyping & FISH for Chromosome 18
Test Code FCV05C
Turn Around Time 15 days
Karyotyping & FISH for Chromosome 21
Test Code FCV06C
Turn Around Time 15 days
Karyotyping & FISH for X, Y PROBES
Test Code FCV09C
Turn Around Time 15 days
Karyotyping with FISH Analysis on Cord Blood (7)
Karyotyping & FISH for 22q Microdeletion
Test Code FCB01C
Turn Around Time 15 days
Karyotyping & FISH for Chromosome 13
Test Code FCB04C
Turn Around Time 15 days
Karyotyping & FISH for Chromosome 18
Test Code FCB05C
Turn Around Time 15 days
Karyotyping & FISH for Chromosome 21
Test Code FCB06C
Turn Around Time 15 days
Karyotyping & FISH for Miller Dieker Syndrome
Test Code FCB09C
Turn Around Time 15 days
Karyotyping with FISH Analysis on Fetal Blood (7)
Karyotyping & FISH for 22q Microdeletion
Test Code FFB01C
Turn Around Time 15 days
Karyotyping & FISH for Chromosome 13
Test Code FFB04C
Turn Around Time 15 days
Karyotyping & FISH for Chromosome 18
Test Code FFB05C
Turn Around Time 15 days
Karyotyping & FISH for Chromosome 21
Test Code FFB06C
Turn Around Time 15 days
Karyotyping & FISH for X, Y PROBES
Test Code FFB09C
Turn Around Time 15 days
Karyotyping with FISH Analysis on Product of Conception (7)
Karyotyping & FISH for 22q Microdeletion
Test Code FPC01C
Turn Around Time 15 days
Karyotyping & FISH for Chromosome 13
Test Code FPC04C
Turn Around Time 15 days
Karyotyping & FISH for Chromosome 18
Test Code FPC05C
Turn Around Time 15 days
Karyotyping & FISH for Chromosome 21
Test Code FPC06C
Turn Around Time 15 days
Karyotyping & FISH for X, Y PROBES
Test Code FPC09C
Turn Around Time 15 days
Karyotyping with FISH Analysis on Venous Blood (9)
Karyotyping with QF-PCR (1)
QF-PCR + Karyotyping
Test Code QFPKT002
Turn Around Time 15 days

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.