Genetic Screening

Advanced PGD genetic screening of embryos for over 400 hereditary diseases

PGD screening of embryos for over 400 hereditary diseases

PGD Testable Diseases

Preimplantation Genetic Diagnosis (PGD) of embryos can avoid serious hereditary diseases

PGD Screening List

The DNA that makes a baby from two individuals is unique. Couples who are at-risk for an inherited disease can reduce the risk to their offspring with PGD testing. Below are some of the genetic disorders for which successfull screening has been performed. Don't see your genetic disorder of concern listed? We are testing for and preventing more and more genetic based maladies monthly. Please call or email and one of our genetic specialists will be happy to contact you to discuss our latest technologies.

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Leading PGD Genetic Screening

  • PGD screening of embryo for hereditary diseases
  • Screening for over 400 hereditary diseases
  • Accuracy of PGD exceeds 98%
  • Advanced laboratory faciltites
  • Affordable high quality services
Free Information Packet!
Disease Genes Tested
A  
Aarskog FGD1
Achondroplasia FGFR3
Adrenoleukodystrophy ABCD1
Agammaglobulinemia BTK
Alagille Syndrome JAG1
Alpha Thalassemia HBA
Alpha-antitrypsin AAT
Alport Syndrome COL4A5
Amyloidosis TTR
Aniridia PAX6
Ankylosing spondylitis HLA-B27
Argininosuccinic Aciduria ASL
Autoimmune Polyendocrine Syndrome AIRE
Apert/Crouzon/Pfeiffer FGFR2
Top  
B  
Bardet Biedl Syndrome BBS1, BBS10
Barth Dilated Cardiomyopathy TAZ
Basal Cell Nevus Syndrome aka gorlin PTCH
Beta Thalassemia HBB
Birt-Hogge-Dube FLCN
Blepharophimosis-ptosis-epicanthus inversus FOXL2
Brachydactyly GDF5
Brachydactyly - Hypertension Syndrome HTNB
Hereditary Breast, Ovarian Cancer BRCA1, BRCA2
Top  
C  
CADASIL - cerebral arteriopathy, AD, with subcortical infarcts and leukoencephalopathy Notch3
Canavan ASPA
Carnitine - AcylCarn Translocase SLC25A20
Cerebral Cavernous Malformation CCM1
Ceroid-lipofuscinoses-Batton PPT1
Charcot Marie Tooth PMP22, NEFL, GJB1, MPZ
Cherubism SH3BP2
Choroideremia CHM
Chronic Granulomatous Disease CYBB
Ciliary Dyskinesia DNAH5
Citrullinemia ASS1
Cleidocranial Dysplasia RUNX2
Cockayne Syndrome ERCC6
Congenital Adrenal Hyperplasia CYP21A2
Congenital Disorder of Glycosylation CGD1
Congenital Icthyosis (Harlequin) ABCA12
Cornelia de Lange Syndrome NIPBL
Cystic Fibrosis CFTR
Cysteinyl Leukotriene Receptor 1 Deficiency CYSLTR1
Top  
D  
D-Bifunctional Protein Deficiency HSD17B4
Darier Disease ATP2A2
Deafness, Autosomal Recessive GJB2, GJB6
Denys-Drash Syndrome WT1
Desmin Storage Myopathy DES
Duchenne/Becker MD DMD
Dyskeratosis Congenita DKC1
Dystonia TOR1A
Dystrophia Myotonica DMPK
Top  
E  
Ectodermal Dysplasia EDA1, GJB6
Ectrodactyly- Clefting Syndrome TP63
Ehlers Danlos COL3A1
Emery-Dreifuss Muscular Dystrophy EMD, LMNA
Epidermolysis Bullosa KRT5, KRT14, LAMB3, ITGB4, COL7A1
Top  
F  
Fabry Disease GLA
Factor V Leiden F5
Familial Adenomatous Polyposis APC
Familial Dysautonomia IKBKAP
Familial Exudative Vitreoretinopathy FZD4
Fanconi Anemia FANCA, FANCC, FANDC2, FANCF, FANCJ, FANCG
Finnish Nephrosis NPHS1
Fragile X FMR1
Top  
G  
Galactosemia GALT
Gaucher Disease GBA
Gerstman-Straussler Disease PRNP
Gluteric Acidemia ETFA, GCDH
Glycogen Storage Disease G6PC, SLC37A4, GAA
gm1 gangliosidosis GLB1
Greig Cephalopolysyndactyly GLI3
Top  
H  
Huntington Disease - Nondisclosing HD
Hemophagocytic Lymphohistiocytosis HPLH1, PRF1
Hemophilia A F8
Hemophilia B F9
Hereditary Angioedema C1NH
Hereditary Hemmorhagic Telangectasia HHT1
Hereditary Leiomyomatosis FH
Hereditary Lymphedema FOXC2
Hereditary Nonpolyposis Colon Cancer MSH2, MLH1
Hereditary Pancreatitis PRSS1
HLA HLA-A
Holt-Oram TBX5
Homocystinuria CBS
Hunter Syndrome IDS
Huntington Disease HD
Hurler Syndrome IDUA
Hydrocephalus, X-linked L1CAM
Hypertrophic Cardiomyopathy LDB3, MYH7, TNNT2, MYBPC3
Hypokalemic periodic paralysis SCN4A
Hypophosphatasia ALPL
Top  
I  
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia VCP
Incontinentia Pigmenti NEMO
IPEX- immunodysregulation, polyendocrinopathy, enteropathy, x-linked FOXP3
Top  
J  
Joubert Syndrome INPP5E
Top  
K  
Kallmann Syndrome FGFR1
KELL Antigen KEL
Kennedy-Spinal bulbar SMAX1
Krabbe Disease GALC
Top  
L  
Leber Retinal Congenital Amaurosis -X GUCY2D, CEP290
Leigh Complex 1 Deficiency c20ORF7
Leigh Syndrome LRPPRC
Leukocyte Adhesion Deficiency ITGB2
Li Fraumeni Syndrome p53
Limb Girdle MD POMT1, LMNA
Long QT Syndrome KCNQ1, SCN5A, KCNE2
Top  
M  
Macular Dystrophy VMD2
Maple Syrup Urine Disease BCKDHB
Marfan Syndrome FBN1
Meckel Gruber MKS1, MKS3
MCADD MCADH
Menkes ATP7A
Merosin-deficient congenital muscular dystrophy 1A MCD1A
Metachromatic Leukodystrophy ARSA
Methylmalonic Acidemia MUT, MMACHC
Microphthalmia CHX
Mucolipidosis 2 I-Cell GNPTAB
Multiple Endocrine Neoplasia MEN1, MEN2A, MEN2B
Multiple Exostoses EXT1, EXT2
Myasthenia Gravis CHRNE
Myotubular Myopathy MTM
Top  
N  
NEMO immunodeficiency NEMO
Neurofibromatosis 1 NF1
Neurofibromatosis 2 NF2
Niemann-Pick SMPD1, NPC1
Nonketotic Hyperglycinemia AMT, GLDC
Noonan Syndrome KRAS, PTPN11, SOS1
Norrie Disease NDP
Top  
O  
Ocular Albinism GPR143
Oculocutaneous Albinism TYR, OCA2
Oculodentaldigital Dysplasia GJA1
Optic Atrophy OPA1
Ornithine Transcarbamylase Deficiency OTC
Osteogenesis Imperfecta COL1A2, COL1A1
Osteopetrosis OSTM1, CLCN7, TCIRG1
OTOF related deafness OTOF
Top  
P  
Pachyonychia Congenita KRT16, KRT6A
Peutz-Jeghers Syndrome STK11
Phenylketonuria PAH
Pheochromocytoma SDHB
Polycystic Kidney Disease PKD1, PKD2
Polycystic Kidney Disease, AR PKHD1
Pompe Disease GAA
Pseudohypoparathyroidism GNAS1
Top  
R  
Retinitis Pigmentosa RHO
Retinoblastoma RB1
Retinoschesis RS1
Rett MeCP2
RhD RHD
Rothmund-Thomson RECQL4
Top  
S  
Sanfillipo SGSH
Sathre-Chozen Craniosynostosis TWIST
Shwachman-Diamond syndrome SBDS
SCID ADA, IL2RG
Senior-Loken Syndrome IQCB1
Sexing X, Y
Short Rib Polydactyly Syndrome DYNC2H1
Sickle Cell Anemia HBB
Simpson-Golabi-Behmel GPC3
Sjogren-Larsson ALDH3A2
Smith Lemli Opitz SLOS
Sorsby Fundus Dystrophy TIMP3
Spinal Muscular Atrophy SMN1
Spinocerebellar Ataxia 1 ATNX1
Spinocerebellar Ataxia 2 ATXN2
Spinocerebellar Ataxia 3 SCA3
Spinocerebellar Ataxia 7 ATXN7
Spondyloepiphyseal Dysplasia COL2A1
Stickler syndrome COL2A1
Surfactant Pulmonary B SFTPB
Top  
T  
Tay-Sachs Disease HEXA
Thrombocytopenia with Beta Thalassemia GATA1
Torsion dystonia DYT1
Treacher Collins TCOF1
Tuberous Sclerosis TSC1, TSC2
Top  
U  
Ullrich Congenital Muscular Dystrophy COL6A2, COL6A3
Usher Syndrome MYO7A
Top  
V  
von Hippel-Lindau VHL
Top  
W  
Waardenburg MITF, PAX3
Walker-Warburg Syndrome FKTN
Wiskott-Aldrich WAS
Wolman Lipase A LIPA
Top  
Z  
Zellweger PEX1
Top  

Free Information Packet

Thank you for your interest in our PGD Screening and genetic disease prevention service. Please use the form below to receive your packet.


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