PerkinElmer Genomics offers diagnostic tests for high risk screening cases with samples obtained either from Amniocentesis or CVS, utilizing a variety of techniques to assess the number and structure of chromosomes. Additionally, genetic tests enables detection of disorders that may go undetected by traditional or conventional methods.

Testing Options

Provides holistic picture of the 23 pairs of chromosome allowing simultaneous examination of all chromosomes.

SAMPLE TYPE Chorionic Villi, Amniotic Fluid, Fetal Blood
Identifies targeted regions on chromosomes using specific fluorescent tagged DNA probes thus enabling detection of various numerical and structural chromosomal aberrations.

SAMPLE TYPE Chorionic Villi, Amniotic Fluid, Fetal Blood
A novel assay based on PerkinElmer proprietary BACs-on-Beads® technology, BoBs® is a CE-IVD targeted molecular testing for the rapid detection of aneuploidies in chromosome 21, 18, 13, gains and aberrations of gains and losses in of DNA with detection level superior to that of conventional Karyotyping.

SAMPLE TYPE Chorionic Villi, Amniotic Fluid
Small changes in DNA that may go undetected by conventional diagnostic methods can possibly be detected by genetic tests. Prenatal genetic testing can be opted in the following scenarios:

  1. Individual having a family history of genetic disorder
  2. Individual having a previously affected child
  3. Significant structural abnormalities on the fetal ultrasound

Please note: Parental carrier testing is a MUST prior to prenatal testing. Contact PerkinElmer Genomics laboratory to learn more about prenatal testing.

Click here to know more about Clinical Genomic Testing options available.

TEST OPTIONS SAMPLE TYPE SPECIAL REQUIREMENTS
Known Familial Mutation Chorionic Villus, Amniotic Fluid Parental carrier status reports, MCC reports

Why PerkinElmer Genomics

A one-stop solution-provider for you to rely on for all your prenatal testing needs!

(Biochemical Screening – Cytogenetics – Molecular genetics)

Second-Tier Testing Options: Various diagnostic testing options are available viz. cytogenetic, molecular genetics and specialized genetic testing options, as needed.

Non-invasive and invasive second-tier testing options that can help confirm the presence of a chromosomal anomaly after high risk screening results are reported. Additionally, large genetic testing panels that can be used in combination with, or separately, from traditional methods for carrier screening.

Customizable Testing Options: If you don’t see a genetic testing option that meets your needs, we can make it for you with our AnyPanel testing option.