Advanced Medical Laboratories

Molecular Diagnostics

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Molecular Diagnostics

1. Prenatal BoBs TM (Improved detection in prenatal diagnostics)

A diagnostic test from amniotic fluid and chorionic villi when 1st and 2nd Trimester screening has indicated a high risk of an anomaly.Detects common aneuploidies of chromosomes 13, 18, 21, X, and Y • Targets 9 common and severe microdeletion with a clinical phenotypic and genotypic correlation • DiGeorge I & II • Angelman • Cri du Chat • Langer-Giedion • Miller-Dieker • Prader-Willi • Smith-Magenis • Williams-Beuren • Wolf-Hirschhorn

2 . KaryoLite BoBs TM (Moving ahead of conventional Karyotyping)

KaryoLite BoBs™ is a new member of BACs-on-Beads family-based molecular karyotyping covering both p and q arms of all chromosomes 1-22, X and Y. One test, multiple benefits;Rapid aneuploidy detection | No requirement of cell culture Chances of failure are less than conventional Karyotyping | Faster TaT than Karyotyping Concordant results with Microarrays and conventional Karyotyping for aneuploidies More information than FISH | A small amount of sample required: 50 ng to 240 (recommended) ng of DNA is required

3. QF-PCR

4. PCR

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