Disease
N * continued
Neurofibromatosis 2
Niemann Pick - Type A
Niemann Pick - Type C
NonKetotic Hyperglycinemia
Noonan
Norrie
Genes we’ve tested
NF2
SMPD1
NPC1
GLDC
PTPN11
NDP
O*
Occulocutaneous Albinism II
Occulocutaneous Albinism I, OCA1
Ocular Albinism-X Linked
Oculodentodigital Dysplasia
Optic Atrophy 1
Ornithine transcarbamylase deficiency
Osteogenesis Imper II/IV and Chondrodysplasias
Osteogenesis Imperfecta I
Osteopetrosis
Osteopetrosis
P*
Pachyonychia Congenita
Pachyonychia Congenita
Pancreatitis, Chronic Calcific
Pancreatitis-Hereditary
Paraganglioma-Nonchromaffin
Pelizaeus-Merzbacher, X-linked
Periventricular Heteropia
Pendred Syndrome
Persistent Hyperinsulinemic Hypoglycemia of Infancy
Peutz-Jeghers Syndrome
Pfeiffer Syndrome
Phenylketonuria PKU
Pheochromocytoma
Polycystic Kidney Disease
Polycystic Kidney Disease
Polycystic Kidney Disease, Recessive
Pompe, Glycogen Storage Disease 2, GSD2
Propionic Acidemia
Pseudohypoparathyroidism 1a
R*
Retinitis Pigmentosa
Retinitis Pigmentosa adRP10
Retinitis Pigmentosa X-linked
Retinoblastoma 1
Retinoschisis
Rett Syndrome Rhesus blood group D
Rhizomelic Chondrodysplasia Punctata
Rothmund-Thompson Syndrome
OCA2
TYR
GPR143
GJA1
OPA1
OTC
COL1A2
COL1A1
CLCN7
TCIRG1, APT6
KRT6A
KRT16A
PRSS1
KEL
SDHB
PLP1
FLNA
SLC264A
ABCC8
STK11
FGFR2
PAH
SDHB
PKD1
PKD2
PKHD1
GAA
PCCA
GNAS1
RHO
IMPDH1
RPGR
RB1
RS1
MECP2
RHD
RCDP1
RECQLA
Disease
S*
Sacral Agenesis
Sanfilippo A
Sanfillipo B
Sathre-Chotzen Craniosynostosis
SCIDX1
Severe Comb Immunodef
Shwachman-Diamond Syndrome
Sickle Cell
Simpson-Golabi-Behmel Syndrome
Sjogren-Larsson
Smith-Lemli-Opitz
Sorsby Fundus Dystrophy
Spinal muscular atrophy SMA
Spinocerebellar Ataxia-1, SCA1
Spinocerebellar ataxia-2, SCA2
Spinocerebellar Ataxia-3, Machado-Joseph
Spinocerebellar Ataxia-7
Spondyloepiphyseal dysplasia, congenital
Steroid Sulfatase Deficiency
Stomach-Ovarian-Endometrial Cancer
Supravalvular Aortic Stenosis
Surfactant-Pulmonary B
T*
Tay-Sachs
Thrombocytopenia with Beta-Thalassemia
Torsion dystonia
Treacher Collins
Transplantation-BoneMarrow-StemCell
Tuberous Sclerosis 1
Tuberous Sclerosis 2
Genes we’ve tested
HLXB9
MPSIIIA
MPSIIIB, NAGLU
TWIST
IL2RG
SCID
SBDS
HBB
GPC3
ALDH3A2
SLOS
TIMP3
SMN1
ATNX1
ATXN2
SCA3
ATXN7
SEDc
STS
CDH1
ELN
SFTPB
HEXA
GATA1
DYT1
TCOF1
HLA locus
TSC1
TSC2
U*
Ullrich Congenital Muscular DystrophyCOL6A2 and
COL6A3
Usher Syndrome
MYO7A
V*
VanderWoude-Popliteal Pterygium
Von Hippel-Lindau Disease
IRF6
VHL
W*
Waardenburg Syndrome Type II
Waardenburg Syndrome I/III
West Syndrome
Wilms Tumor
Wiskott-Aldrich Syndrome
Wolman Lipase A
MITF
PAX3
ARX
WT1
WAS
LIPA
Z*
Zellweger Peroxisome Disease
PEX1
* * * * * * * * * * * * This is only a partial listing. Contact us for disorders not included here. * * * * * * * * * * * *
Genesis Genetics
www.genesisgenetics.org
Argentina
Brasil
Jordan
Taiwan
United Kingdom
United States
Helping Couples Build Healthy Families
with Preimplantation Genetic Diagnosis
(PGD) for Genetically Inherited Diseases
The PGD genetic probes we build for our families are custom designed.
This is because each person’s DNA is unique.
The DNA that two individuals mix together to make a baby is also unique. Genesis Genetics Institute 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
X-FGD1
Achondroplasia
FGFR3
Actin-Nemalin Myopathy
ACTA1
Acute Intermittent Porphyria
HMBS
Acute Megakaryocytic Leukemia
GATA1
Adenomatous Polyposis Coli
FAP-APC
Adrenoleukodystrophy
ABCD1
Agammaglobulinemia-Bruton
BTK
Alagille Syndrome
JAG1
Aldolase A deficiency
ALDOA
Alpers Syndrome
POLG
Alpha Thalassemia
HBA1, HBA2
Alpha Thalassemia/Mental Retard
ATRX
Alpha-1-Antitrypsin Deficiency
AAT
Alport Syndrome
COL4A5
ALS: Amyotrophic Lateral Sclerosis 1
SOD1
Alzheimer Disease 3
PSEN1
Amegakaryocytic Thrombocytopenia, CAMT
Congenital
Amyloidosis I-Transthyretin
TTR
Angioedema, Hereditary
C1NH
Aniridia
PAX6
Ankylosing spondylitis(Susceptibility to)
HLA-B27
Antithrombin Deficiency
SERPINC1
Apert Syndrome
FGFR2
Ataxia Telangiectasia
ATM
Disease
C * continued
Ceroid-Lipofuscinoses – Finish Type
Ceroid-Lipofuscinoses – Juvenile Type
Charcot Marie Tooth 1A
Charcot Marie Tooth Neuropathy 2E
Charcot Marie Tooth Neuropathy 1B
Cherubism
Choroideremia
Chronic Granulomatous Disease
Citrullinemia
Cleidocranial Dysplasia
Cockayne Syndrome Type B
Colon Cancer
Congenital Adrenal Hyperplasia
Congenital Disorder Glycosylation, 1a – CDG-1a
Congenital Disorder Glycosylation, 1c – CDG-1c
Congenital Disorder Glycosylation, 1e – CDG-1e
Congenital Disorder Glycosylation, 1g – CDG-1g
Congenital Erythropoietic Porphyria
Cosman-Cyclic Neutropenia
Crigler Najjar
Crouzon Syndrome
Cystic Fibrosis
Cystinosis
B*
Bardet-Biedl Syndrome-Type 1
Bardet-Biedl Syndrome-Type 10
Basal Cell (Gorlin) Synd
Batten Disease, Neuronal Ceroid Lipofuscinosis 3
Beta Thalassemia Birt-Hogg-Dube Bloom Syndrome Brachydactyly-Type C Breast Cancer D*
Darier Disease
Deafness, Recessive
Deafness, Recessive
Deafness, Recessive
Denys-Drash Wilms Tumor
Desmin Storage Myopathy
Diamond Blackfan
Diamond Blackfan
Duchenne muscular dystrophy
Dyskeratosis Congenita
Dystonia
Dystrophia Myotonica-1
Dystrophia Myotonica-2
C*
CACH-Ataxia
CADASIL
Canavan Disease
Cardiomyopathy, Barth Type Dilated
Cardiomyopathy, Dilated Hypertrophic
Cardiomyopathy, Familial Hypertrophic 2
Carnitine-AcylCarn Translocase
Ceroid-Lipofuscinoses-Batten Disease
BBS1
BBS10
PTCH
CLN3
HBB
FLCN
BLM
GDF5
BRCA1 and 2
EIF2B4
Notch3
ASPA
TAZ
MYH7
TNNT2
SLC25A20
PPT1
Genes we’ve tested
CLN5
CLN3
PMP22
NF-L, NEFL
MPZ
SH3BP2
CHM
CYBB
ASS
RUNX2
CSB, ERCC6
HNPCC, MSH2
CYP21A2
PMM2
ALG6
DPM1
ALG12
UROS
ELA2
UGT1A1
FGFR2
CFTR
CTNS
ATP2A2
GJB2 Connexin 26
GJB6 Connexin 30
DFBN1
WT1
DES
DBA-RPS19
DBA2 (not RPS19)
DMD
DKC1
TOR1A
DMPK (CTGrpt)
DM2 (PROMM
CCTGrpt)
E*
Ectodermal Dysplasia I
EDA1
Ehlers-Danlos
COL3A1
Emery-Dreifuss X-Linked Muscular Dystrophy
Emery-Dryfuss AutoDom Muscular Dystrophy LMNA
* * * * * * * * * * * * This is only a partial listing. Contact us for disorders not included here. * * * * * * * * * * * *
Disease
E * continued
Epidermolysis Bullosa
Epidermolysis Bullosa Simplex
Epidermolysis Bullosa/Pyloric Atresia
Epidermolysis Dystrophic Bullosa
Epidermolytic Hyperkeratosis
F*
Fabry
Facioscapulohumeral Dystrophy
Factor 13 Deficiency
Familial Dysautonomia
Familial Exudative Vitreoretinopathy
Fanconi Anemia A
Fanconi Anemia C
Fanconi Anemia F
Fanconi Anemia J
Fanconia Anemia G
Fragile X
Friedreich Ataxia I
Genes we’ve tested
KRT5
KRT14
ITGB4
COL7A1
KRT10
GLA
FSHD
F13A1
IKBKAP
FZD4
FANCA
FANCC
FANC F
FANCJ, BRIP1
FANCG
FMR1
FRDA
G*
Galactosemia
GALT
Gastric Cancer, Cadherin-E-1
CDH1
Gaucher Disease
GBA
Genotyping – Molecular Signature –
Fingerprinting
Gerstmann-Straussler Disease
PRNP
Glutaric Acidemia 2A
ETFA
Glycine Encephalopathy GLDC 80%
NKH
Glycogen Storage Disease I, G6PC
Von Girke – GSD1a
Glycogen Storage Disease 2, Pompe – GSD2 GAA
GM1 Gangliosidosis, Morquio
GLB1
H*
Hallervorden-Spatz-Pantothenate
Hemophilia A
Hemophilia B
Hereditary Hemmorrhagic Telangietasia Type 1
Histiocytosis, Hemophagocytic Lympho
HLA DRBeta1 Class II MHC
HLA-Histocompatability, Transplantation Matching
Holt-Oram
Homocystinuria
Hunter Syndrome
Huntington Disease
Hurler Syndrome
Hydrocephalus: X-Linked
Hyper IgM
Hypokalemic periodic paralysis
Hypophosphatasia
Hypophosphatemic VitD Rickets
I*
Icthyosis, X-Steroid Sulf Def
Icthyosis, Congenital, Harlequin
Incontinentia Pigmenti
PANK2
Factor
Factor 9
HHT1
HLH; PRF1
HLA DRB1*
HLA
TBX5
CBS
IDS
HD
MPSI-IDUA
L1CAM
CD40-ligand, TNFSF5
SCN4A-HYPP
ALPL
ABCA12
NEMO
Disease
I * continued
IPEX – immunodysregulation, polyendocrinopathy, and entereopathy,
x-linked
Genes we’ve tested
FOXP3
J*
Joubert Syndrome
AHI1, INPP5E
K*
Kallmann Syndrome
KELL Antigen
Kennedy-Spinal bulbar
Krabbe
FGFR1
KEL
AR, SMAX1
GALC
L*
Leber Retinal Congenital Amaurosis-I
Leber Retinal Congenital Amaurosis-X
Leigh Syndrome
Leiomyomatosis-Hereditary
Lesch-Nyhan
Leukemia, Acute Lymphocytic, Transplantation
Leukemia, Acute Myelogenous, Transplantation
Leukemia, Chronic Myelogenous, Transplantation
Leukocyte Adhesion Deficiency
Li-Fraumeni Syndrome
Limb Girdle MD
Long-Chain-AcylCoA Dehydrogenase
Long QT Syndrome
Lymphedema-Hereditary
Lymphoproliferative Disorder, X-linked
M*
Machado-Joseph Spinocerebellar Ataxia-3
Macular Dystr-Best Vitelliform
Maple Syurp Urine Dz E1-Beta
Marfan Syndrome
Meckel-Gruber Syndrome-3
Menkes
Merosin-deficient congenital muscular
dystrophy type 1A
Metachromatic Leukodystrophy
Methylcobalamin G Deficiency
Methylmalonic Acidemia
Mitochondrial Myopathy-Complex I
Mucolipidosis 2, I Cell
Multiple Endocrine Neoplasia 1
Multiple Endocrine Neoplasia 2 MEN2
Multiple Extostoses
Multiple Extostoses
Myasthenia Gravis
Myotonic Muscular Dystrophy
Myotubular Myopathy X-Linked
N*
NEMO immunodeficiency
Nephrosis – Finnish
Neurofibromatosis 1
GUCY2D
CEP290
LRPPRC
FH
HPRT1
ALL
AML
CML
ITGB2
TP53
FKTN
LCHAD, HADHA
KCNQ1, SCN5A
and KCNE2
FOXC2
SH2D1A
SCA3
VMD2
BCKDHB
FBN1
MKS3
ATP7A
MDC1A
ARSA
MTR
MUT
NDUFS4
GNPTAB
MEN1
RET
EXT1
EXT2
CHRNE
DMPK
MTM
IKBKG
NPHS1
NF1
* * * * * * * * * * * * This is only a partial listing. Contact us for disorders not included here. * * * * * * * * * * * *