Our Services

Biochemical Genetics, Cytogenetics and Molecular Genetics

PerkinElmer Genomics provides screening and diagnostic options for better health at all stages of life. Our services range from biochemical screening, cytogenetic to molecular diagnostic tests safeguarding the health of expecting mothers, newborn babies, children and adults.

Prenatal Testing 

The very first stage of care starts from pregnancy. Screening for conditions like pre-eclampsia or finding the risk of having a baby with uncommon chromosomal condition in the early stages of pregnancy provides earlier insight allowing timely management and proper care during the pregnancy. Our complete screening solutions give families the confidence they need to manage the pregnancy without unnecessary distress, and enable the best clinical outcomes for each mother and baby affected by any disorder.

Newborn Screening

While most of the newborns are born healthy, few may develop symptoms of an underlying genetic disorder. Many inherited metabolic disorders can be managed if detected early in life. Newborn screening helps the baby to have a healthy start to life. Our comprehensive Newborn Screening Program allows detection of more than 50 disorders in newborns from just a few drops of blood. Second-tier testing options can be used to confirm the presence of a genetic disorder after an abnormal newborn screen result. These tests may consist of follow-up biochemical screens and/or genetic tests comprising the most common disease-causing mutations for a specific condition.

Clinical Genomics

PerkinElmer is one of the leading service providers of newborn screening and pioneers in prenatal screening having a strong foothold in biochemical risk assessment, diagnostics using cytogenetics and molecular techniques. Adding Clinical Genomics to its comprehensive portfolio has now enabled diagnosis of rare genetic disorders using Next-Generation Sequencing, Sanger and Del/Dup assay based platforms.

Genetic Counseling

PerkinElmer Genomics offer pre-test and post-test genetic counseling by trained counselors in the field of prenatal testing. Our counselors work extensively with clinicians and also extend their services to patients on case to case basis.

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