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Bio B2BSofiva Genomics 〉Preimplantation Genetic Diagnosis, PGD

Preimplantation Genetic Diagnosis, PGD

Preimplantation Genetic Diagnosis, PGD

Preimplantation genetic diagnosis (PGD) 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. SOFIVA provides professional clinical counseling, medical center level technique, and accurate analysis.

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Overview
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.

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.
Features
Leading: Asia's first success rescue baby.
 
Accurate: Efficient Analysis from our advanced team.

Professional: Experienced clinical consultant physicians.
 
PIONEER IN ASIA: Rescue Baby
We not only can screen the single gene disorders but can match the Human Leukocyte Antigen (HLA) for umbilical cord blood transplant . By selecting the matched embryo which is identical to the ill sibling, the umbilical cord blood transplant is performed as the treatment for its ill sibling after the birth of this rescue baby afterwards. In 2008, with this advanced technique, we succeeded in creating the "Rescue Baby" to save the sibling from suffering β- thalassemia.
*Note: Since there's limitation for the treatment of cord blood transplant, please contact us for further information in advance.
Specifications

We provide professional clinical counseling, medical center level technique, detailed and accurate analysis for

1. Who has family history of single gene disorder
2. Who has conceived a child diagnosed with a single gene disorder

to make your offspring relieved from the disease.
Application
The list of single gene disorders which we have performed for PGD
※If you need more information, please contact us.
Chinese English 
甲型海洋性貧血 α-thalassemia 
乙型海洋性貧血 β-thalassemia 
甲型血友病 Hemophilia A, HA 
乙型血友病 Hemophilia B, HB 
小腦萎縮症第二型 Spinocerebellar ataxia type II, SCA2 
小腦萎縮症第三型 Spinocerebellar ataxia type III, SCA3 
小腦萎縮症第六型 Spinocerebellar ataxia type VI, SCA6 
脊髓性肌肉萎縮症 Spinal muscular atrophy, SMA 
人類白血球組織抗原 Human leukocyte antigen, HLA 
成骨不全症 Osteogenesis imperfecta, OI 
馬凡氏症 Marfan syndrome 
遺傳性聽力障礙 Congenital deafness, CD 
裘馨氏/貝克氏肌肉失養症 Duchenne/Becker muscular dystrophy, DMD/BMD 
神經性纖維瘤第一型 Neurofibromatosis type I, NF1 
芳香族L-胺基酸脫羧酵素缺乏症 Aromatic L-amino acid aecarboxylase ,AADC 
視網膜母細胞瘤 Retinoblastoma, RB 
巴德-畢德氏症候群 Bardet-Biedl Syndrom, BBS 
鳥胺酸氨甲醯基轉移酶缺乏症 Ornithine transcarbamylase deficiency, OTC Deficiency 
恰克-馬利-杜斯氏症 Charcot-Marie-Tooth disease, CMT disease 
結節性硬化症 Tuberous sclerosis complex, TSC 
僵直性脊椎炎 Ankylosing spondylitis, AS 
嚴重複合型免疫缺乏症 Severe combined immunodeficiency, SCID 
亨丁頓舞蹈症 Huntington's disease 
先天性全身脂肪失養症 Congenital generalized lipodystrophy 
單純性水疱性表皮鬆解症 Epidermolysis bullosa simplex, EBS 
麥克爾格魯伯症侯群 Meckel Gruber Syndrome 
先天性腎上腺增生 Congenital adrenal hyperplasia, CAH 
軟骨發育不全症(侏儒症) Achondroplasia, AC 
布魯頓症侯群 Bruton syndrome 
威爾森氏症 Wilson's disease 
色盲 Color blindness 
體染色體顯性多囊性腎臟病 Autosomal dominant polycystic kidney disease, ADPKD 
體染色體隱性多囊性腎臟病 Autosomal recessive polycystic kidney disease, ARPKD
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