Tests

Acatalasemia

Achondroplasia; Hypochondroplasia

Thanatophoric Dysplasia, Types I and II; Achondroplasia

Adrenoleukodystrophy (X-Linked)

Alpha Methylacyl-CoA Racemase Deficiency

Antley Bixler-like Syndrome

Apert Syndrome

Ataxia-Telangiectasia

Benign Hereditary Chorea

Campomelic Dysplasia

Choreoathetosis, Congenital Hypothyroidism, Neonatal Respiratory Distress Syndrome (also known as Brain-Lung-Thyroid Syndrome)

Zellweger Spectrum Disorders; Neonatal Adrenoleukodystrophy; Refsum Disease; Rhizomelic Chondrodysplasia Punctata, Types 1, 2, and 3; Peroxisomal Beta-Oxidation Defects; Several rare single peroxisomal enzyme defects

Coronal Synostosis

Craniofrontonasal Syndrome

Crouzon Syndrome

Crouzon Syndrome with Acanthosis Nigricans

Cystic Fibrosis; Pseudohypoaldosteronsim Type 1 (autosomal recessive); Carbonic Anhydrase XII deficiency

Cystic Fibrosis

Cystic Fibrosis

Cystic Fibrosis

Pseudohypoaldosteronsim Type 1 (autosomal recessive); Carbonic Anhydrase XII deficiency

Duchenne Muscular Dystrophy; Becker Muscular Dystrophy

Huntington Disease

Huntington Disease-Like 2 (HDL2)

Jackson-Weiss Syndrome

Liddle Syndrome; Familial Hypertension

Loeys-Dietz Aneurysm Syndrome, Types 1 and 2

Aneurysm Osteoarthritis Syndrome; Loeys-Dietz Syndrome Type 3

Marfan Syndrome, Type 2

Mulibrey Nanism

Neonatal Respiratory Distress; ABCA3-Related Surfactant Deficiency; Surfactant Protein B Deficiency; Surfactant Protein C Deficiency; Alveolar Capillary Displasia with Misalignment of Pulmonary Veins; Choreoathetosis, Congenital Hypothyroidism, Neonatal Respiratory Distress Syndrome

Oculodentodigital Dysplasia (ODDD)

Peroxisomal Beta-Oxidation Defects

Pfeiffer Syndrome

Primary Hyperoxaluria Type 1

Pseudohypoaldosteronism (PHA) Type 1 (autosomal dominant and autosomal recessive)

Albright Hereditary Osteodystrophy; Pseudohypoparathyroidism, Type 1A (PHP1A), Pseudopseudohypoparathyroidism (PPHP)

Pseudohypoparathyroidism Type 1b

Diffuse lung disease

Refsum Disease

Rhizomelic Chondrodysplasia Punctata (RCDP) Types 1, 2, and 3

Saethre-Chotzen Syndrome

Severe Achondroplasia, Developmental Delay, Acanthosis Nigricans (SADDAN)

Telomere shortening disorders

Treacher Collins Syndrome

von Hippel-Lindau Syndrome

Zellweger Spectrum Disorders; Peroxisomal Beta-Oxidation Defects

Zellweger Spectrum Disorders; Infantile Refsum Disease; Neonatal Adrenoleukodystrophy