standard-title Single Gene Disorder Testing (TruPGD)

Single Gene Disorder Testing (TruPGD)


Preimplantation genetic diagnosis (PGD) is a specific test that detect single gene disorders. PGD determines which of the embryos are out of risk and safe for embryo transfer. It is done before the pregnancy to help avoid difficult situations and outcomes. If there is a well-known history of genetic diseases that runs in the family, it is highly recommended that you conduct a PGD test. Some conditions can be inherited from either parent, either through an autosomal dominant manner (in which one parent is affected) or an autosomal recessive manner (in which it is inherited from both the unaffected carrier). Some conditions are sex linked so only the father or mother can carry them. However, not all diseases are caused by single gene mutations and fall out of the scope of PGD. Reprogene offers PGD for any identified mutation in any genetic diseases. We use state-of-the-art technologies for PGD, using multiple detection methods to ensure highly reliable results. All PGD tests must be coordinated in advance with Reprogene Genetics Services.


What to Expect When Requesting a PGD Test

Reprogene will need to review the genetic report to determine if we can conduct the PGD test. If so, we will require blood samples from the couple and possibly other family members. A specialized probe is designed and customized for each identified mutation. The specialized probe is then used on the embryos to look for any genetic abnormalities. The genetic report with the test results is provided to the IVF clinic for interpretation.

Reprogene Single Gene Disorders List

Reprogene offers PGD for any identified mutation in any genetic disease. We use state of the art technologies for PGD, using multiple detection methods to ensure highly reliable results. PGD testing requires blood samples from the couple and other family members. We then build and customize a special probe for the affected person(s). This probe is used on the embryos to look for any genetic abnormalities. All test musts be coordinated in advance with our Genetics Service team. Below is a list of genetic disorders commonly tested for PGD, this is not a complete list of diseases for which PGD is used. We can test for any genetic disorder that has been identified in a mutation report. If there is a genetic disorder that is not listed below, please contact us to determine if we can perform the PGD.


Genetic DisorderGene

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
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
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

Genetic DisorderGene

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