Partial List of Diseases Detected by PGD

These diseases (and genes) are currently tested by the Genesis Genetics Institute:

A
Aarskog Achondroplasia Adrenoleukodystrophy Agammaglobulinemia Alagille Syndrome Alpha Thalassemia Alpha-antitrypsin Alport Syndrome Amyloidosis Aniridia Ankylosing spondylitis Apert/Crouzon/Pfeiffer	FGD1 FGFR3 ABCD1 BTK JAG1 HBA AAT COL4A5 TTR PAX6 HLA-B27 FGFR2
B
Bardet Biedl Syndrome Barth Dilated Cardiomyopathy Basal Cell Nevus Syndrome aka gorlin Beta Thalassemia Birt-Hogge-Dube Brachydactyly Brachydactyly - Hypertension Syndrome Hereditary Breast and Ovarian Cancer	BBS1 and BBS10 TAZ PTCH HBB FLCN GDF5 HTNB BRCA1 and BRCA2
C
CADASIL - cerebral arteriopathy, AD, with subcortical infarcts & leukoencephalopathy Canavan Carnitine - AcylCarn Translocase Ceroid-lipofuscinoses-Batton Charcot Marie Tooth Cherubism Choroideremia Chronic Granulomatous Disease Ciliary Dyskinesia Cleidocranial Dysplasia Cockayne Syndrome Congenital Adrenal Hyperplasia Congenital Disorder of Glycosylation Congenital Icthyosis (Harlequin) Cornelia de Lange Syndrome Cystic Fibrosis Cysteinyl Leukotriene Receptor 1 Deficiency	Notch3 ASPA SLC25A20 PPT1 PMP22, NEFL, GJB1 and MPZ SH3BP2 CHM CYBB DNAH5 RUNX2 ERCC6 CYP21A2 CGD1 ABCA12 NIPBL CFTR CYSLTR1
D
Darier Disease Deafness, Autosomal Recessive Denys-Drash Syndrome Desmin Storage Myopathy Duchenne/Becker MD Dyskeratosis Congenita Dystonia Dystrophia Myotonica	ATP2A2 GJB2 and GJB6 WT1 DES DMD DKC1 TOR1A DMPK
E
Ectodermal Dysplasia Ectrodactyly- Clefting Syndrome Ehlers Danlos Emery-Dreifuss Muscular Dystrophy Epidermolysis Bullosa	EDA1 and GJB6 TP63 COL3A1 EMD and LMNA KRT5, KRT14, LAMB3, ITGB4 and COL7A1
F
Fabry Disease Facioscapulohumeral dystrophy Factor V Leiden Familial Adenomatous Polyposis Familial Dysautonomia Familial Exudative Vitreoretinopathy Fanconi Anemia Finnish Nephrosis Fragile X	GLA FRG1 F5 APC IKBKAP FZD4 FANCA, FANCC, FANDC2, FANCF, FANCJ and FANCG NPHS1 FMR1
G
Galactosemia Gaucher Disease Gerstman-Straussler Disease Gluteric Acidemia Glycogen Storage Disease gm1 gangliosidosis Greig Cephalopolysyndactyly	GALT GBA PRNP ETFA and GCDH G6PC, SLC37A4, and GAA GLB1 GLI3
H
Huntington Disease - Nondisclosing Hemophagocytic Lymphohistiocytosis Hemophilia A Hemophilia B Hereditary Angioedema Hereditary Hemmorhagic Telangectasia Hereditary Leiomyomatosis Hereditary Lymphedema Hereditary Pancreatitis HLA Holt-Oram Homocystinuria Hunter Syndrome Huntington Disease Hurler Syndrome Hydrocephalus, X-linked Hypertrophic Cardiomyopathy Hypokalemic periodic paralysis Hypophosphatasia	HD HPLH1 and PRF1 F8 F9 C1NH HHT1 FH FOXC2 PRSS1 HLA-A TBX5 CBS IDS HD IDUA L1CAM LDB3, MYH7, TNNT2, and MYBPC3 SCN4A ALPL
I
Inclusion Body Myopathy with Early-Onset Paget Disease & Frontotemporal Dementia Incontinentia Pigmenti IPEX- immunodysregulation, polyendocrinopathy, and enteropathy, x-linked	VCP NEMO FOXP3
J
Joubert Syndrome	INPP5E
K
Kallmann Syndrome KELL Antigen Kennedy-Spinal bulbar Krabbe Disease	FGFR1 KEL SMAX1 GALC
L
Leber Retinal Congenital Amaurosis -X Leigh Syndrome Leukocyte Adhesion Deficiency Li Fraumeni Syndrome Limb Girdle MD Long QT Syndrome	GUCY2D and CEP290 LRPPRC ITGB2 p53 POMT1 and LMNA KCNQ1, SCN5A and KCNE2
M
Macular Dystrophy Maple Syrup Urine Disease Marfan Syndrome Meckel Gruber MCADD Menkes Merosin-deficient congenital muscular dystrophy 1A Metachromatic Leukodystrophy Methylmalonic Acidemia Mucolipidosis 2 I-Cell Multiple Endocrine Neoplasia Multiple Exostoses Myasthenia Gravis Myotubular Myopathy	VMD2 BCKDHB FBN1 MKS1 and MKS3 MCADH ATP7A MCD1A ARSA MUT and MMACHC GNPTAB MEN1, MEN2A, MEN2B EXT1 and EXT2 CHRNE MTM
N
NEMO immunodeficiency Neurofibromatosis 1 Neurofibromatosis 2 Niemann-Pick Nonketotic Hyperglycinemia Noonan Syndrome	NEMO NF1 NF2 SMPD1 and NPC1 AMT and GLDC KRAS, PTPN11 and SOS1
O
Ocular Albinism Oculocutaneous Albinism Oculodentaldigital Dysplasia Optic Atrophy Ornithine Transcarbamylase Deficiency Osteogenesis Imperfecta Osteopetrosis OTOF related deafness	GPR143 TYR and OCA2 GJA1 OPA1 OTC COL1A2 and COL1A1 OSTM1, CLCN7 and TCIRG1 OTOF
P
Pachyonychia Congenita Peutz-Jeghers Syndrome Phenylketonuria Pheochromocytoma Polycystic Kidney Disease Polycystic Kidney Disease, AR Pompe Disease Pseudohypoparathyroidism	KRT16, KRT6A STK11 PAH SDHB PKD1 and PKD2 PKHD1 GAA GNAS1
R
Retinitis Pigmentosa Retinoblastoma Retinoschesis Rett RhD Rothmund-Thomson	RHO RB1 RS1 MeCP2 RHD RECQL4
S
Sanfillipo Sathre-Chozen Craniosynostosis Shwachman-Diamond syndrome SCID Sexing Sickle Cell Anemia Simpson-Golabi-Behmel Sjogren-Larsson Smith Lemli Opitz Sorsby Fundus Dystrophy Spinal Muscular Atrophy Spinocerebellar Ataxia 1 Spinocerebellar Ataxia 2 Spinocerebellar Ataxia 3 Spinocerebellar Ataxia 7 Spondyloepiphyseal Dysplasia Surfactant Pulmonary B	SGSH TWIST SBDS ADA and IL2RG X and Y HBB GPC3 ALDH3A2 SLOS TIMP3 SMN1 ATNX1 ATXN2 SCA3 ATXN7 COL2A1 SFTPB
T
Tay-Sachs Disease Thrombocytopenia with Beta Thalassemia Torsion dystonia Treacher Collins Tuberous Sclerosis	HEXA GATA1 DYT1 TCOF1 TSC1 and TSC2
U
Ullrich Congenital Muscular Dystrophy Usher Syndrome	COL6A2 and COL6A3 MYO7A
V
von Hippel-Lindau	VHL
W
Waardenburg Walker-Warburg Syndrome Wiskott-Aldrich Wolman Lipase A	MITF and PAX3 FKTN WAS LIPA
Z
Zellweger	PEX1

Questions ?

Partial List of Diseases Detected by PGD

A

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I

J

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Z