infertilty
infertility infertility infertility infertility infertility infertility infertility infertility infertility infertility infertility infertility infertility infertility infertility
infertility infertility clinic video tour contact us login search
home
links Working to solve Genetic Puzzles for the Future
help
site map
infertility
infertility
infertility
infertility  
infertility

infertilityArrange Office Visit



































































































































infertility
infertility specialist
 

PGD Disorders Tested

The list of conditions for whch PGD is performed is being extended rapidly. PGD involves chemical stimulation of the mother to produce several oocytes, which are then collected in a short procedure, guided by ultrasound. These oocytes are then fertilized in-vitro and the resulting embryos are analyzed to assure that they do not carry the mutation. If the mother has the mutation, polar body biopsy is performed to select the oocytes to transfer. If the father is affected, blastomere biopsy is performed. All this testing is done with the strictest quality control, with analysis of the mutation and its linked markers to minimize the risk of allele drop-out and preferential amplification. At present the PGD Disorders tested list includes the list below. Where possible we provided a link to a website with more information under "Disorder Tested", a link to a medical website under "Link", an "X" to indicate a healthy "Baby" was conceived, and an "X" to indicate a "PGD" and "Pregnancy" procedure is available.

Disorder Tested Link Baby PGD Pregnancy
Achondroplasia MD Link      
Adenosine Aminohydrolase MD Link  
X
X
Alpha 1 antitrypsin deficiency MD Link  
X
 
Alpha-l-iduronidase(idua) MD Link  
X
X
Alport syndrome MD Link  
X
 
Alzheimer disease MD Link  
X
X
Aneuploidies by str genotyping    
X
X
Charcot-marie-tooth disease type 1a MD Link  
X
 
Charcot-marie-tooth disease type 1b MD Link  
X
 
Charcot-marie-tooth disease type 2e MD Link  
X
X
Charcot-marie-tooth disease type x1 MD Link  
X
 
Choroideremia MD Link  
X
 
Citrullinemia MD Link  
X
 
congenital adrenal hyperplasia MD Link  
X
X
crouzon syndrome (craniofacial dysostosis) MD Link  
X
X
currarino triad MD Link  
X
X
cystic fibrosis MD Link  
X
X
diamond-blackfan anemia MD Link  
X
 
dystonia torsion (dyt1) MD Link  
X
X
emery-dreifuss muscular dystrophy MD Link  
 
 
epidermolysis bullosa    
X
 
epiphyseal dysplasia, multiple MD Link  
X
 
fabry disease MD Link  
 
 
Facioscapulohumeral Muscular Dystrophy MD Link  
 
 
familial adenomatosis polyposis MD Link  
X
X
familial dysautonomia/riley-day syndrome, dys MD Link  
X
X
familial posterior fossa brain tumor    
X
 
fanconi anemia a (and hla) MD Link  
X
 
fanconi anemia c (and hla) MD Link  
X
X
fragile-x a syndromes (fmr1) MD Link  
X
X
fragile-x e syndromes MD Link  
 
 
galactosemia MD Link  
X
 
gaucher disease    
X
 
glycogen storage disease type vi MD Link  
X
 
gorlin syndrome (basal cell nevus syndrome) MD Link  
X
 
hemophilia a MD Link  
X
X
hemophilia b MD Link  
X
X
hereditary nonpolyposis colorectal cancer MD Link  
X
X
hla matching genotyping    
X
X
holoprosencephaly MD Link  
X
 
hunter syndrome/mucopolysaccharidosis 2 MD Link  
X
 
huntington chorea MD Link  
X
 
hurler syndrome (mucopolysaccharidosis ih) MD Link  
X
 
hypophosphatasia (infantile) MD Link  
X
 
incontinentia pigmenti MD Link  
X
 
kell blood group MD Link  
X
X
krabbe disease MD Link  
X
 
li-fromeni syndrome (mutations in p53 gene) MD Link  
X
X
long-chain hydroxyacyl-coa dehydrogenase MD Link  
X
X
malignant autosomal recessive osteopetrosis MD Link  
X
 
marfan syndrome MD Link  
X
X
metachromatic luekodystropy MD Link  
 
 
multiple exostoses type i MD Link  
X
 
muscular dystrophy, duchenne type; dmd MD Link  
X
X
muscular dystrophy, becker type; bmd MD Link  
X
X
myotonic dystrophy (dm1) MD Link  
X
X
myotubular myopathy 1 MD Link  
X
 
neurofibromatosis type 1 MD Link  
X
X
neurofibromatosis type 2 MD Link  
X
X
neuronal ceroid lipofuscinoses (batton, cnl3) MD Link  
X
 
norrie disease MD Link  
X
 
oculocutaneous albinism type 1 MD Link  
X
 
oculocutaneous albinism type 2 MD Link  
X
 
optic atrophy MD Link  
X
 
ornithine carbamoyltransferase (otc) deficiency MD Link  
X
X
osteogenesis imperfecta MD Link  
X
X
pelizaes-merzbacher disease MD Link  
X
 
phenylketonuria MD Link  
X
X
polycystic kidney disease autosomal dominant1 MD Link  
X
X
polycystic kidney disease autosomal dominant2 MD Link  
X
X
polycystic kidney disease autosomal recessive MD Link  
X
 
retinitis pigmentosa MD Link  
X
 
retinoblastoma MD Link  
X
 
sickle cell anemia MD Link  
X
X
spinal muscular atrophy (sma) MD Link  
X
X
spinocerebellar ataxia type 2 MD Link  
X
 
spinocerebellar ataxia type 3 MD Link  
X
X
spinocerebellar ataxia type 6 MD Link  
X
 
spinocerebellar ataxia type 7 MD Link  
X
 
symphalangism MD Link  
X
 
tay-sachs disease MD Link  
X
 
thalassemia alpha MD Link  
X
X
thalassemia beta MD Link  
X
X
treacher collins syndrome MD Link  
X
 
tuberous sclerosis type 1 MD Link  
X
X
tuberous sclerosis type 2 MD Link  
X
 
von hippel lindau syndrome MD Link  
X
X
wiscott aldrich syndrome MD Link  
 
 
x-linked adrenoleukodystrophy MD Link  
X
X
x-linked hydrocephalus MD Link  
X
 
x-linked hyper igm syndrome MD Link  
X
X
x-linked incontinentia pigmenti MD Link  
X
 
infertility infertility infertility genetics infertility prenatal infertility services infertility about us infertility
          Copyright (c) 2005, Reproductive Genetics Institute. All rights reserved.
Privacy Policy  | User Agreement |  Terms of Use  Copyright Information |  Contact Us