Conditions A to Z

• A
  • Achondroplasia
  • Alpha Thalassemia
  • Androgen Insensitivity Syndrome
  • Angelman Syndrome
  • Ashkenazi Jewish Carrier Screening

• B
  • Becker Muscular Dystrophy
  • Beta Thalassemia
  • Brugada Syndrome

• C
  • CADASIL
  • Canavan Disease
  • Charcot-Marie-Tooth Type 1A
  • Chimerism
  • Cystic Fibrosis

• D
  • Duchenne Muscular Dystrophy
  • Dystonia, Early Onset Primary (DYT1)
  • Dystrophinopathies (DMD, BMD)

• F
  • Familial Dysautonomia
  • Familial Mediterranean Fever
  • Fanconi Anemia Type C
  • FMR1-Related Disorders
  • Fragile X Associated Tremor Ataxia syndrome (FXTAS)
  • Fragile X Syndrome
  • Friedreich Ataxia

• G
  • Glucose Transporter Type 1 Deficiency Syndrome

• H
  • Hemoglobin Disorders
  • Hemoglobinopathies
  • Hereditary Neuropathy with Liability to Pressure Palsies
  • HFE-Associated Hereditary Hemochromatosis
  • Huntington Disease
  • Hyper IgD Syndrome
  • Hyperkalemic Periodic Paralysis
  • Hypochondroplasia
  • Hypokalemic Periodic Paralysis

• M
  • Muenke Syndrome
  • Myotonic Dystrophy Type 1
  • Myotonic Dystrophy Type 2

• O
  • Oculopharyngeal Muscular Dystrophy

• P
  • Periodic Fever Syndromes
  • Prader-Willi Syndrome
  • Premature Ovarian Insufficiency

• R
  • Russell-Silver Syndrome

• S
  • Sensorineural Hearing Loss (GJB2/6)
  • Sickle Cell Disease
  • Spinal Muscular Atrophy (SMA)
  • Spinobulbar Muscular Atrophy (SBMA)
  • Spinocerebellar Ataxia Panel
  • Spinocerebellar Ataxia Type 1
  • Spinocerebellar Ataxia Type 2
  • Spinocerebellar Ataxia Type 3
  • Spinocerebellar Ataxia Type 6
  • Spinocerebellar Ataxia Type 7
  • Steroid 5-alpha-reductase deficiency
  • Steroid Sulfatase Deficiency

• T
  • Tay-Sachs Disease
  • Thanatophoric Dysplasia
  • Transient Neonatal Diabetes Mellitus
  • Transthyretin Amyloidosis
  • TRAPS

• U
  • Uniparental Disomy (UPD)

• W
  • Weaver Syndrome

• X
  • X-linked Ichthyosis

• Z
  • Zygosity