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

Childhood Interstitial Lung Disease; ABCA3-related Surfactant Deficiency; Choreoathetosis, Congenital Hypothyroidism, Neonatal Respiratory Distress Syndrome (also known as Brain-Lung-Thyroid Syndrome or TTF1-Deficiency Syndrome);  Surfactant Protein C Deficiency 

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

Diffuse Lung Disease; Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV); Childhood Interstitial Lung Disease; Choreoathetosis, Congenital Hypothyroidism, Neonatal Respiratory Distress Syndrome; Hermansky-Pudlak Syndrome associated with pulmonary fibrosis; Idiopathic Pulmonary Fibrosis; Inherited Surfactant Protein Deficiencies (SP-B, SP-C, ABCA3, SP-A2); Lysinuric Protein Intolerance; Neonatal Respiratory Distress Syndrome;  Pulmonary Alveolar Proteinosis

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)

Idiopathic Pulmonary Fibrosis; Choreoathetosis, Congeital Hypothyroidism, Neonatal Respiratory Distress Syndrome; Hermansky-Pudlak Syndrome associated with pulmonary fibrosis; Inherited Surfactant Protein Deficiencies (SP-B, SP-C, ABCA3); Pulmonary fibrosis related to telomere shortening disorders

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

Pulmonary Alveolar Proteinosis; Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV); Choreoathetosis, Congenital Hypothyroidism, Neonatal Respiratory Distress Syndrome (also known as Brain-Lung-Thyroid Sydrome); Surfactant Protein B Deficiency; Surfactant Protein C Deficiency; ABCA3-related Surfactant Deficiency; Lysinuric Protein Intolerance; CSF2RA- and CSF2RB- related pulmonary alveolar proteinosis (also known as Surfactant Metabolism Dysfunction, pulmonary 4 and 5) 

Refsum Disease

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

Saethre-Chotzen Syndrome

Severe Achondroplasia, Developmental Delay, Acanthosis Nigricans (SADDAN)

Aplastic Anemia-Myelodysplastic Syndrome; Hoyeraal-Hreidarsson Syndrome; Telomere Shortening Disorders Spectrum; Pulmonary Fibrosis, Telomere-Related; Coats plus syndrome; Revesz Syndrome; Dyskeratosis Congenita

Treacher Collins Syndrome

von Hippel-Lindau Syndrome

Zellweger Spectrum Disorders; Peroxisomal Beta-Oxidation Defects

Zellweger Spectrum Disorders; Infantile Refsum Disease; Neonatal Adrenoleukodystrophy