List of PGD Testing Conditions

For which conditions is PGD available?

PGD is available for the vast majority of serious genetic conditions as long as the particular gene mutation(s) in the family have been identified through DNA testing. Here are some examples of conditions for which PGD has been successfully performed through our program and others. Please remember that the ability to offer PGD is dependent not only on the disorder/gene itself, but also on the ability to offer a reliable test based on each family’s particular DNA and the available technologies. PGD is available for many other conditions that are not on this list as well. Please feel free to email us with any questions about your specific case.

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

A

Achondroplasia
ADA (Adenosine Deaminase) deficiency
Adrenoleukodystrophy
Alpha-thalassemia
Alpha-1-antitrypsin deficiency
Alport syndrome
Alzheimer disease (APP, PSEN1, or PSEN2 related)
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D)
Ataxia telangiectasia

B

Bardet-Biedl syndrome
Beta-thalassemia
Bloom syndrome
BRCA1&2-related hereditary breast and ovarian cancer syndromes
Brugada syndrome
X-linked (Bruton) agammaglobulinemia

C

Canavan disease
Cardiofaciocutaneous syndrome
Cardiomyopathy, dilated and hypertrophic
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Charcot-Marie-Tooth hereditary neuropathy
Choroideremia
Chronic granulomatous disease
Citrullinemia
Cleidocranial dysplasia
Congenital adrenal hyperplasia
Congenital disorders of glycosylation
Congenital erythropoietic porphyria
Crigler-Najjar syndrome
Curranino syndrome
Cystic fibrosis

D

Danon disease
Darier disease
Diamond-Blackfan anemia
Dravet syndrome
Duchenne muscular dystrophy

E

Emery-Dreifuss muscular dystrophy
Epidermolysis bullosa
Epidermolytic hyperkeratosis

F

Factor 13 deficiency
Familial adenomatous polyposis (FAP)
Familial dysautonomia
Fanconi anemia
Fatal familial insomnia
Fragile X syndrome
Friedreich ataxia
Frontotemporal dementia

G

Gaucher disease
GJB2-related hearing loss and deafness
Glycogen storage diseases
Glutaric acidemia

H

Hemophilia A
Hemophilia B
Hereditary diffuse gastric cancer
Hereditary hemorrhagic telangiectasia (HHT)
Hereditary multiple osteochondromas
Hereditary spastic paraplegia
Hereditary spherocytosis
HLA typing (some cases)
Hunter syndrome
Huntington disease
Hurler syndrome
Hyper IgM syndrome
Hypophosphatasia

I

Ichthyosis
Incontinentia pigmenti

J

Joubert syndrome

K

Kennedy disease
Krabbe disease

L

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
Long QT syndrome
Lesch-Nyhan syndrome
Leukocyte adhesion deficiency
Li-Fraumeni syndrome
Loeys-Dietz syndrome
Lymphoproliferative disease
Lynch syndrome (HNPCC)

M

Marfan syndrome
Menkes disease
Metachromatic leukodystrophy
Morquio syndrome
Mucolipidosis
Mucopolysaccharidosis
Multiple endocrine neoplasia (MEN)
Multiple epiphyseal dysplasia
Myotonic dystrophy
Myotubular myopathy

N

Neurofibromatosis
Neuronal Ceroid-Lipofuscinoses (Batten disease)
Niemann-Pick disease, various types

O

Ornithine transcarbamylase deficiency
Osteogenesis imperfecta
Otopalatodigital spectrum disorders

P

Pachyonychia congenita
Pendred syndrome
Periventricular heteropia
Phenylketonuria (PKU)
Polycystic kidney diseases
PTEN harmartoma tumor syndrome
Pyruvate dehydrogenase deficiency

R

Retinoblastoma
Retinitis pigmentosa
Rett syndrome
Rhizomelic chondrodysplasia punctata

S

Sanfilippo syndrome
Sanhoff disease
Severe combined immune deficiency
Shwachman-Diamond syndrome
Sickle cell disease
Smith-Lemli-Opitz syndrome
Spinal muscular atrophy
Spinocerebellar ataxia

T

Tay-Sachs disease
TreacherCollins syndrome
Tuberous sclerosis

U

Usher syndrome

V

Von Hippel-Lindau syndrome

W

Wiskott-Aldrich syndrome

X

X-linked hydrocephalus

Contact Oregon Reproductive Medicine for more information today.

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