Overview

Chromosomal Microarray Analysis

• Fetal DNA Chip
• Postnatal Chip

Down Syndrome Screening

Expanded Carrier Screening (ECS)

FISH

• Common aneuploidy of chromosome 13, 18, 21, X or Y
• Prader-Willi/ Angelman syndrome
• DiGeorge syndrome
• Others

Joshua Hellmann Foundation
Newborn Metabolic Screening Program

Karyotyping

Next-generation sequencing (NGS)

PCR

• QF-PCR for common aneuploidy of chromosome 13, 18, 21, X & Y
• PCR analysis of Y chromosome microdeletion
• PCR analysis of Fragile X syndrome
• Hearing Loss Screening Panel

Preeclampsia Screening and Monitoring

Reproductive Genetic Diagnosis & Screening

• Pre-implantation Genetic Diagnosis (PGD)
• Pre-implantation Genetic Screening (PGS)