PGD to Prevent Cystic Fibrosis, SMA, Fragile X, and other Genetic Diseases

PGD or 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.

Disease Genes that have been tested
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
Bardet Biedl Syndrome BBS1 and 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 and Ovarian Cancer BRCA1 and BRCA2
CADASIL – cerebral arteriopathy, AD, with subcortical infarcts & leukoencephalopathy Notch3
Canavan ASPA
Carnitine – AcylCarn Translocase SLC25A20
Cerebral Cavernous Malformation CCM1
Ceroid-lipofuscinoses-Batton PPT1
Charcot Marie Tooth PMP22, NEFL, GJB1 and 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
D-Bifunctional Protein Deficiency HSD17B4
Darier Disease ATP2A2
Deafness, Autosomal Recessive GJB2 and GJB6
Denys-Drash Syndrome WT1
Desmin Storage Myopathy DES
Duchenne/Becker MD DMD
Dyskeratosis Congenita DKC1
Dystonia TOR1A
Dystrophia Myotonica DMPK
Ectodermal Dysplasia EDA1 and GJB6
Ectrodactyly- Clefting Syndrome TP63
Ehlers Danlos COL3A1
Emery-Dreifuss Muscular Dystrophy EMD and LMNA
Epidermolysis Bullosa KRT5, KRT14, LAMB3, ITGB4 and COL7A1
Fabry Disease GLA
Facioscapulohumeral dystrophy FRG1
Factor V Leiden F5
Familial Adenomatous Polyposis APC
Familial Dysautonomia IKBKAP
Familial Exudative Vitreoretinopathy FZD4
Finnish Nephrosis NPHS1
Fragile X FMR1
Galactosemia GALT
Gaucher Disease GBA
Gerstman-Straussler Disease PRNP
Gluteric Acidemia ETFA and GCDH
Glycogen Storage Disease G6PC, SLC37A4, and GAA
gm1 gangliosidosis GLB1
Greig Cephalopolysyndactyly GLI3
Huntington Disease – Nondisclosing HD
Hemophagocytic Lymphohistiocytosis HPLH1 and 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
Holt-Oram TBX5
Homocystinuria CBS
Hunter Syndrome IDS
Huntington Disease HD
Hurler Syndrome IDUA
Hydrocephalus, X-linked L1CAM
Hypertrophic Cardiomyopathy LDB3, MYH7, TNNT2, and MYBPC3
Hypokalemic periodic paralysis SCN4A
Hypophosphatasia ALPL
Inclusion Body Myopathy with Early-Onset Paget Disease & Frontotemporal Dementia VCP
Incontinentia Pigmenti NEMO
IPEX- immunodysregulation, polyendocrinopathy, and enteropathy, x-linked FOXP3
Joubert Syndrome INPP5E
Kallmann Syndrome FGFR1
KELL Antigen KEL
Kennedy-Spinal bulbar SMAX1
Krabbe Disease GALC
Leber Retinal Congenital Amaurosis -X GUCY2D and CEP290
Leigh Complex 1 Deficiency c20ORF7
Leigh Syndrome LRPPRC
Leukocyte Adhesion Deficiency ITGB2
Li Fraumeni Syndrome p53
Limb Girdle MD POMT1 and LMNA
Long QT Syndrome KCNQ1, SCN5A and KCNE2
Macular Dystrophy VMD2
Maple Syrup Urine Disease BCKDHB
Marfan Syndrome FBN1
Meckel Gruber MKS1 and MKS3
Menkes ATP7A
Merosin-deficient congenital muscular dystrophy 1A MCD1A
Metachromatic Leukodystrophy ARSA
Methylmalonic Acidemia MUT and MMACHC
Microphthalmia CHX
Mucolipidosis 2 I-Cell GNPTAB
Multiple Endocrine Neoplasia MEN1, MEN2A, MEN2B
Multiple Exostoses EXT1 and EXT2
Myasthenia Gravis CHRNE
Myotubular Myopathy MTM
NEMO immunodeficiency NEMO
Neurofibromatosis 1 NF1
Neurofibromatosis 2 NF2
Niemann-Pick SMPD1 and NPC1
Nonketotic Hyperglycinemia AMT and GLDC
Noonan Syndrome KRAS, PTPN11 and SOS1
Norrie Disease NDP
Ocular Albinism GPR143
Oculocutaneous Albinism TYR and OCA2
Oculodentaldigital Dysplasia GJA1
Optic Atrophy OPA1
Ornithine Transcarbamylase Deficiency OTC
Osteogenesis Imperfecta COL1A2 and COL1A1
Osteopetrosis OSTM1, CLCN7 and TCIRG1
OTOF related deafness OTOF
Pachyonychia Congenita KRT16, KRT6A
Peutz-Jeghers Syndrome STK11
Phenylketonuria PAH
Pheochromocytoma SDHB
Polycystic Kidney Disease PKD1 and PKD2
Polycystic Kidney Disease, AR PKHD1
Pompe Disease GAA
Pseudohypoparathyroidism GNAS1
Retinitis Pigmentosa RHO
Retinoblastoma RB1
Retinoschesis RS1
Rett MeCP2
Rothmund-Thomson RECQL4
Sanfillipo SGSH
Sathre-Chozen Craniosynostosis TWIST
Shwachman-Diamond syndrome SBDS
Senior-Loken Syndrome IQCB1
Sexing X and 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
Tay-Sachs Disease HEXA
Thrombocytopenia with Beta Thalassemia GATA1
Torsion dystonia DYT1
Treacher Collins TCOF1
Tuberous Sclerosis TSC1 and TSC2
Ullrich Congenital Muscular Dystrophy COL6A2 and COL6A3
Usher Syndrome MYO7A
von Hippel-Lindau VHL
Waardenburg MITF and PAX3
Walker-Warburg Syndrome FKTN
Wiskott-Aldrich WAS
Wolman Lipase A LIPA
Zellweger PEX1

Structural chromosomal defects

  • 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