PGD Prevents Genetic Diseases

PGD Prevents Genetic Diseases because 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
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

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

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

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

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

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

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

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

I
Inclusion Body Myopathy with Early-Onset Paget Disease & Frontotemporal Dementia	VCP
Incontinentia Pigmenti	NEMO
IPEX- immunodysregulation, polyendocrinopathy, and enteropathy, x-linked	FOXP3

J
Joubert Syndrome	INPP5E

K
Kallmann Syndrome	FGFR1
KELL Antigen	KEL
Kennedy-Spinal bulbar	SMAX1
Krabbe Disease	GALC

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

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

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

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

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

R
Retinitis Pigmentosa	RHO
Retinoblastoma	RB1
Retinoschesis	RS1
Rett	MeCP2
RhD	RHD
Rothmund-Thomson	RECQL4

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

T
Tay-Sachs Disease	HEXA
Thrombocytopenia with Beta Thalassemia	GATA1
Torsion dystonia	DYT1
Treacher Collins	TCOF1
Tuberous Sclerosis	TSC1 and TSC2

U
Ullrich Congenital Muscular Dystrophy	COL6A2 and COL6A3
Usher Syndrome	MYO7A

V
von Hippel-Lindau	VHL

W
Waardenburg	MITF and PAX3
Walker-Warburg Syndrome	FKTN
Wiskott-Aldrich	WAS
Wolman Lipase A	LIPA

Z
Zellweger	PEX1

What if there are no normal pre-embryos available for transfer?

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

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