The DNA that two individuals mix together to make a baby is unique. Genesis Genetics is known globally for our 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 (we will not test for trivial traits) can reduce this risk to their offspring by working with our team.
Below are some of the genetic disorders for which we have 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 we've 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 |
↑ back to top |
|
| B
| |
| 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 |
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|
| C
| |
| 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 |
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|
| D
| |
| 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 |
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|
| E
| |
| 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 |
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|
| F
| |
| Fabry Disease |
GLA |
| Facioscapulohumeral dystrophy |
FRG1 |
| Factor V Leiden |
F5 |
| Familial Adenomatous Polyposis |
APC |
| Familial Dysautonomia |
IKBKAP |
| Familial Exudative
Vitreoretinopathy |
FZD4 |
| Fanconi Anemia |
FANCA, FANCC, FANDC2, FANCF,
FANCJ and FANCG |
| Finnish Nephrosis |
NPHS1 |
| Fragile X |
FMR1 |
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|
| G
| |
| 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 |
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|
| H
| |
| 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 |
| 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, and MYBPC3 |
| Hypokalemic periodic paralysis |
SCN4A |
| Hypophosphatasia |
ALPL |
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|
| I
| |
| Inclusion Body Myopathy with
Early-Onset Paget Disease & Frontotemporal Dementia |
VCP |
| Incontinentia Pigmenti |
NEMO |
| IPEX- immunodysregulation,
polyendocrinopathy, and enteropathy, x-linked |
FOXP3 |
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|
| J
| |
| Joubert Syndrome |
INPP5E |
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|
| K
| |
| Kallmann Syndrome |
FGFR1 |
| KELL Antigen |
KEL |
| Kennedy-Spinal bulbar |
SMAX1 |
| Krabbe Disease |
GALC |
↑ back to top |
|
| L
| |
| 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 |
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|
| M
| |
| Macular Dystrophy |
VMD2 |
| Maple Syrup Urine Disease |
BCKDHB |
| Marfan Syndrome |
FBN1 |
| Meckel Gruber |
MKS1 and MKS3 |
| MCADD |
MCADH |
| 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 |
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|
| N
| |
| 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 |
↑ back to top |
|
| O
| |
| 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 |
↑ back to top |
|
| P
| |
| 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 |
↑ back to top |
|
| R
| |
| Retinitis Pigmentosa |
RHO |
| Retinoblastoma |
RB1 |
| Retinoschesis |
RS1 |
| Rett |
MeCP2 |
| RhD |
RHD |
| Rothmund-Thomson |
RECQL4 |
↑ back to top |
|
| S
| |
| Sanfillipo |
SGSH |
| Sathre-Chozen Craniosynostosis |
TWIST |
| Shwachman-Diamond syndrome |
SBDS |
| SCID |
ADA and IL2RG |
| 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 |
↑ back to top |
|
| T
| |
| Tay-Sachs Disease |
HEXA |
| Thrombocytopenia with Beta
Thalassemia |
GATA1 |
| Torsion dystonia |
DYT1 |
| Treacher Collins |
TCOF1 |
| Tuberous Sclerosis |
TSC1 and TSC2 |
↑ back to top |
|
| U
| |
| Ullrich Congenital Muscular
Dystrophy |
COL6A2 and COL6A3 |
| Usher Syndrome |
MYO7A |
↑ back to top |
|
| V
| |
| von Hippel-Lindau |
VHL |
↑ back to top |
|
| W
| |
| Waardenburg |
MITF and PAX3 |
| Walker-Warburg Syndrome |
FKTN |
| Wiskott-Aldrich |
WAS |
| Wolman Lipase A |
LIPA |
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|
| Z
| |
| Zellweger |
PEX1 |
↑ back to top |
|
