PGD Prevents Genetic Diseases


PGD Prevents Genetic Diseases because pre-implantation genetic diagnosis allows the IVF clinic to test embryos (blastocysts) in the laboratory before implanting them into the patient. Some of the more common PGD indications for IVF are Cystic Fibrosis, Spinal Muscular Atrophy, Fragile X, and Sickle Cell Anemia.
Some patients have also sought PGD in order to have a child that is a good match for an older sibling that needs a tissue transplant. This application of PGD and IVF is not without controversy or critics. Each case is handled on an individual basis. Please refer to the general PGD/PGS section of this site for further information on these procedures.

Diseases we test for:

The DNA that two individuals mix together to make a baby is unique. Our primary reference laboratory for PGS and PGD, Genesis Genetics is known globally for their ability to test for some of the rarest genetic conditions, as well as the more common ones. Couples who are at-risk for essentially any serious inherited disease (They will not test for trivial traits like eye color, hair color, etc.) can reduce this risk to their offspring by working with our team.

Below are some of the genetic disorders for which genesis has successfully performed PGD. This is in no way a complete list of diseases for which PGD is possible; we add to this list every week. We can test for essentially any genetic disease that has been identified by a mutation report. If the disease of concern in your family is not listed below, contact us to determine if PGD is possible.

DiseaseGenes that have been tested
A 
AarskogFGD1
AchondroplasiaFGFR3
AdrenoleukodystrophyABCD1
AgammaglobulinemiaBTK
Alagille SyndromeJAG1
Alpha ThalassemiaHBA
Alpha-antitrypsinAAT
Alport SyndromeCOL4A5
AmyloidosisTTR
AniridiaPAX6
Ankylosing spondylitisHLA-B27
Argininosuccinic AciduriaASL
Autoimmune Polyendocrine SyndromeAIRE
Apert/Crouzon/PfeifferFGFR2
  
B 
Bardet Biedl SyndromeBBS1 and BBS10
Barth Dilated CardiomyopathyTAZ
Basal Cell Nevus Syndrome aka gorlinPTCH
Beta ThalassemiaHBB
Birt-Hogge-DubeFLCN
Blepharophimosis-ptosis-epicanthus inversusFOXL2
BrachydactylyGDF5
Brachydactyly – Hypertension SyndromeHTNB
Hereditary Breast and Ovarian CancerBRCA1 and BRCA2
  
C 
CADASIL – cerebral arteriopathy, AD, with subcortical infarcts & leukoencephalopathyNotch3
CanavanASPA
Carnitine – AcylCarn TranslocaseSLC25A20
Cerebral Cavernous MalformationCCM1
Ceroid-lipofuscinoses-BattonPPT1
Charcot Marie ToothPMP22, NEFL, GJB1 and MPZ
CherubismSH3BP2
ChoroideremiaCHM
Chronic Granulomatous DiseaseCYBB
Ciliary DyskinesiaDNAH5
CitrullinemiaASS1
Cleidocranial DysplasiaRUNX2
Cockayne SyndromeERCC6
Congenital Adrenal HyperplasiaCYP21A2
Congenital Disorder of GlycosylationCGD1
Congenital Icthyosis (Harlequin)ABCA12
Cornelia de Lange SyndromeNIPBL
Cystic FibrosisCFTR
Cysteinyl Leukotriene Receptor 1 DeficiencyCYSLTR1
  
D 
D-Bifunctional Protein DeficiencyHSD17B4
Darier DiseaseATP2A2
Deafness, Autosomal RecessiveGJB2 and GJB6
Denys-Drash SyndromeWT1
Desmin Storage MyopathyDES
Duchenne/Becker MDDMD
Dyskeratosis CongenitaDKC1
DystoniaTOR1A
Dystrophia MyotonicaDMPK
  
E 
Ectodermal DysplasiaEDA1 and GJB6
Ectrodactyly- Clefting SyndromeTP63
Ehlers DanlosCOL3A1
Emery-Dreifuss Muscular DystrophyEMD and LMNA
Epidermolysis BullosaKRT5, KRT14, LAMB3, ITGB4 and COL7A1
  
F 
Fabry DiseaseGLA
Facioscapulohumeral dystrophyFRG1
Factor V LeidenF5
Familial Adenomatous PolyposisAPC
Familial DysautonomiaIKBKAP
Familial Exudative VitreoretinopathyFZD4
Fanconi AnemiaFANCA, FANCC, FANDC2, FANCF, FANCJ and FANCG
Finnish NephrosisNPHS1
Fragile XFMR1
  
G 
GalactosemiaGALT
Gaucher DiseaseGBA
Gerstman-Straussler DiseasePRNP
Gluteric AcidemiaETFA and GCDH
Glycogen Storage DiseaseG6PC, SLC37A4, and GAA
gm1 gangliosidosisGLB1
Greig CephalopolysyndactylyGLI3
  
H 
Huntington Disease – NondisclosingHD
Hemophagocytic LymphohistiocytosisHPLH1 and PRF1
Hemophilia AF8
Hemophilia BF9
Hereditary AngioedemaC1NH
Hereditary Hemmorhagic TelangectasiaHHT1
Hereditary LeiomyomatosisFH
Hereditary LymphedemaFOXC2
Hereditary Nonpolyposis Colon CancerMSH2, MLH1
Hereditary PancreatitisPRSS1
HLAHLA-A
Holt-OramTBX5
HomocystinuriaCBS
Hunter SyndromeIDS
Huntington DiseaseHD
Hurler SyndromeIDUA
Hydrocephalus, X-linkedL1CAM
Hypertrophic CardiomyopathyLDB3, MYH7, TNNT2, and MYBPC3
Hypokalemic periodic paralysisSCN4A
HypophosphatasiaALPL
  
I 
Inclusion Body Myopathy with Early-Onset Paget Disease & Frontotemporal DementiaVCP
Incontinentia PigmentiNEMO
IPEX- immunodysregulation, polyendocrinopathy, and enteropathy, x-linkedFOXP3
  
J 
Joubert SyndromeINPP5E
  
K 
Kallmann SyndromeFGFR1
KELL AntigenKEL
Kennedy-Spinal bulbarSMAX1
Krabbe DiseaseGALC
  
L 
Leber Retinal Congenital Amaurosis -XGUCY2D and CEP290
Leigh Complex 1 Deficiencyc20ORF7
Leigh SyndromeLRPPRC
Leukocyte Adhesion DeficiencyITGB2
Li Fraumeni Syndromep53
Limb Girdle MDPOMT1 and LMNA
Long QT SyndromeKCNQ1, SCN5A and KCNE2
  
M 
Macular DystrophyVMD2
Maple Syrup Urine DiseaseBCKDHB
Marfan SyndromeFBN1
Meckel GruberMKS1 and MKS3
MCADDMCADH
MenkesATP7A
Merosin-deficient congenital muscular dystrophy 1AMCD1A
Metachromatic LeukodystrophyARSA
Methylmalonic AcidemiaMUT and MMACHC
MicrophthalmiaCHX
Mucolipidosis 2 I-CellGNPTAB
Multiple Endocrine NeoplasiaMEN1, MEN2A, MEN2B
Multiple ExostosesEXT1 and EXT2
Myasthenia GravisCHRNE
Myotubular MyopathyMTM
  
N 
NEMO immunodeficiencyNEMO
Neurofibromatosis 1NF1
Neurofibromatosis 2NF2
Niemann-PickSMPD1 and NPC1
Nonketotic HyperglycinemiaAMT and GLDC
Noonan SyndromeKRAS, PTPN11 and SOS1
Norrie DiseaseNDP
  
O 
Ocular AlbinismGPR143
Oculocutaneous AlbinismTYR and OCA2
Oculodentaldigital DysplasiaGJA1
Optic AtrophyOPA1
Ornithine Transcarbamylase DeficiencyOTC
Osteogenesis ImperfectaCOL1A2 and COL1A1
OsteopetrosisOSTM1, CLCN7 and TCIRG1
OTOF related deafnessOTOF
  
P 
Pachyonychia CongenitaKRT16, KRT6A
Peutz-Jeghers SyndromeSTK11
PhenylketonuriaPAH
PheochromocytomaSDHB
Polycystic Kidney DiseasePKD1 and PKD2
Polycystic Kidney Disease, ARPKHD1
Pompe DiseaseGAA
PseudohypoparathyroidismGNAS1
  
R 
Retinitis PigmentosaRHO
RetinoblastomaRB1
RetinoschesisRS1
RettMeCP2
RhDRHD
Rothmund-ThomsonRECQL4
  
S 
SanfillipoSGSH
Sathre-Chozen CraniosynostosisTWIST
Shwachman-Diamond syndromeSBDS
SCIDADA and IL2RG
Senior-Loken SyndromeIQCB1
SexingX and Y
Short Rib Polydactyly SyndromeDYNC2H1
Sickle Cell AnemiaHBB
Simpson-Golabi-BehmelGPC3
Sjogren-LarssonALDH3A2
Smith Lemli OpitzSLOS
Sorsby Fundus DystrophyTIMP3
Spinal Muscular AtrophySMN1
Spinocerebellar Ataxia 1ATNX1
Spinocerebellar Ataxia 2ATXN2
Spinocerebellar Ataxia 3SCA3
Spinocerebellar Ataxia 7ATXN7
Spondyloepiphyseal DysplasiaCOL2A1
Stickler syndromeCOL2A1
Surfactant Pulmonary BSFTPB
  
T 
Tay-Sachs DiseaseHEXA
Thrombocytopenia with Beta ThalassemiaGATA1
Torsion dystoniaDYT1
Treacher CollinsTCOF1
Tuberous SclerosisTSC1 and TSC2
  
U 
Ullrich Congenital Muscular DystrophyCOL6A2 and COL6A3
Usher SyndromeMYO7A
  
V 
von Hippel-LindauVHL
  
W 
WaardenburgMITF and PAX3
Walker-Warburg SyndromeFKTN
Wiskott-AldrichWAS
Wolman Lipase ALIPA
  
Z 
ZellwegerPEX1

What if there are no normal pre-embryos available for transfer?

  • Aneuploidy screen for advanced maternal age, recurrent pregnancy loss, and recurrent IVF failures.
  • Sex linked recessive disorders
  • Chromosomal translocations
  • Kleinfelter syndrome
  • Sex chromosome masaicism

Common Monogenic (single gene) diseases (Also see above table)

  • Cystic Fibrosis
  • Beta Thallasemias
  • Spinal muscular dystrophy
  • Tay-Sachs
  • Rh isoimunization
  • Gaucher disease
  • Sandhoff disease
  • Sickle cell anemia
  • Adrenoleukodystrophy
  • Dystonia
  • Factor V Leiden
  • Familial hypophosphatemia
  • Fanconi anemia
  • Freidrech ataxia
  • Medium chain AcylCoA deficiency
  • Methymalonic acidemia
  • Ornithine transcarbamylase deficiency
  • Pyruvate dehydrogenase deficiency
  • Polycystic kidney disease

Autosomal dominant diseases

  • Myotonic dystrophy
  • Huntington’s disease
  • Charcot-Marie-Tooth disease
  • Neurofibromatosis type 1
  • Marfan’s syndrome
  • Osteogenesis imperfecta

X-linked Diseases

  • Duchene and Becker’s muscular dystrophy
  • Hemophilia
  • Fragile X syndrome
  • Wiskott-Aldrich syndrome
  • Charcott-Marie Tooth disease
  • Coffin-Lowry syndrome
  • Granulomatous disease
  • Hydrocephalus
  • Agammaglobuminemia
  • Ataxia
  • X linked Autism
  • Barth Syndrome
  • Golz syndrome
  • Hunter syndrome
  • Hypohydrotic ectodermal dysplasia
  • Lucontinental pigmenti
  • Kennedy disease
  • Lowe syndrome
  • Pelizaeus-Merzbacher syndrome
  • Proliferative disease
  • Retinitis pigmentosa
  • Retinischisis
  • Vitamin D resistant rickets
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