Preimplantation Genetic Diagnosis(PGD)

Some parents with a single gene disorder often ask before having a baby:

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Preimplantation genetic diagnosis is an advanced technology combined with In Vitro fertilization (IVF) and molecular genetics. It can be used as the diagnosis of a single gene disorder at early embryo stage prior to implantation. Perform Day 5 embryo biopsy to obtain the Trophectoderm cell at Blastocyst stage for genetic analysis to diagnose if there is mutation of a single gene disorder which which runs in a family with the personalized probes. PGD helps preselect normal embryos to make sure that no single gene disorder is inherited before fertilization and ease the stress for the expectant mother.


1. Who has family history of single gene disorder

2. Who has conceived a child diagnosed with a single gene disorder


First, based on your family history, perform the genetic testing for single gene disorder to have the result of point mutation. With the result, we can analyze and design the personalized probe for you accordingly.

After having the result of genetic testing, we provide dual platform to carry out direct testing and indirect testing for D5 biopsied cells at the same time after Whole Genome Amplification (WGA). The main theory is to detect the target exons, where most mutation points locate, and the junctions.

Patient Story

The list of single gene disorders which we have performed for PGD

◆ α-thalassemia

◆ β-thalassemia

◆ Hemophilia A, HA

◆ Hemophilia B, HB

◆ Spinocerebellar ataxia type II, SCA2

◆ Spinocerebellar ataxia type III, SCA3

◆ Spinocerebellar ataxia type VI, SCA6

◆ Spinal muscular atrophy, SMA

◆ Human leukocyte antigen, HLA

◆ Osteogenesis imperfecta, OI

◆ Marfan syndrome

◆ Congenital deafness, CD

◆ Duchenne/Becker muscular dystrophy, DMD/BMD

◆ Neurofibromatosis type I, NF1

◆ Aromatic L-amino acid aecarboxylase ,AADC

◆ Retinoblastoma, RB

◆ Bardet-Biedl Syndrom, BBS

◆ Ornithine transcarbamylase deficiency, OTC Deficiency

◆ Charcot-Marie-Tooth disease, CMT disease

◆ Tuberous sclerosis complex, TSC

◆ Ankylosing spondylitis, AS

◆ Severe combined immunodeficiency, SCID

◆ Huntington's disease

◆ Congenital generalized lipodystrophy

◆ Epidermolysis bullosa simplex, EBS

◆ Meckel Gruber Syndrome

◆ Congenital adrenal hyperplasia, CAH

◆ Achondroplasia, AC

◆ Bruton syndrome

◆ Wilson's disease

◆ Color blindness

◆ Autosomal dominant polycystic kidney disease, ADPKD

◆ Autosomal recessive polycystic kidney disease, ARPKD

◆ Krabbe Disease

◆ Fragile X syndrome

◆ Facioscapulohumeral muscular dystrophy

◆ Glycogen Storage Disease Type Ia

◆ Citrullinemia Type II

◆ Spondyloepiphyseal Dysplasia Tarda

◆ Glycogen Storage Disease Type II (Pompe Disease)

◆ Metachromatic Leukodystrophy

◆ Bullous Congenital ichthyosiform erythroderma

◆ Hypokalemic periodic paralysis

※If you need more information, please contact us.

How It Works

We provide professional clinical counseling, medical center level technique, detailed and accurate analysis to make your offspring relieved from the disease.