PANELES:
Consulte por todos nuestros paneles y nuestros paneles customizables.
| ABCA3 | Interstitial lung disease, Surfactant metabolism dysfunction, pulmonary |
| CCDC39 | Ciliary dyskinesia |
| CCDC40 | Ciliary dyskinesia |
| CFTR | Cystic fibrosis |
| CHAT | Myasthenic syndrome, congenital |
| CHRNA1 | Myasthenic syndrome, congenital |
| CHRNB1 | Myasthenic syndrome |
| CHRND | Myasthenic syndrome |
| CHRNE | Myasthenic syndrome |
| COLQ | Myasthenic syndrome, congenital |
| CSF2RA | Surfactant metabolism dysfunction, pulmonary |
| DKC1 | Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome |
| DNAAF1 | Ciliary dyskinesia |
| DNAAF2 | Ciliary dyskinesia |
| DNAH5 | Ciliary dyskinesia |
| DNAH11 | Ciliary dyskinesia |
| DNAI1 | Ciliary dyskinesia |
| DNAI2 | Ciliary dyskinesia |
| DNAL1 | Ciliary dyskinesia |
| EDN3 | Central hypoventilation syndrome, congenital, Hirschsprung disease, Waardenburg syndrome |
| EFEMP2 | Cutis laxa |
| ELMOD2 | Familial idiopathic pulmonary fibrosis |
| ELN | Cutis laxa, Supravalvular aortic stenosis |
| FBLN5 | Cutis laxa, Macular degeneration, age-related |
| FLCN | Birt-Hogg-Dube syndrome, Pneumothorax, primary spontaneous |
| FOXF1 | Alveolar capillary dysplasia with misalignment of pulmonary veins |
| GLRA1 | Hyperekplexia |
| HPS1 | Hermansky-Pudlak syndrome |
| HPS4 | Hermansky-Pudlak syndrome |
| ITGA3 | Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa |
| LTBP4 | Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities |
| MECP2 | Angelman-like syndrome, Autism, Encephalopathy, Mental retardation, Rett syndrome |
| NF1 | Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome |
| NKX2-1 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Thyroid cancer, nonmedullary |
| NME8 | Ciliary dyskinesia |
| PARN | Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure |
| PHOX2B | Central hypoventilation syndrome, congenital, Neuroblastoma with Hirschsprung disease, Neuroblastoma, susceptiblity to |
| RAPSN | Myasthenic syndrome, congenital |
| RET | Central hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma |
| RSPH4A | Ciliary dyskinesia |
| RSPH9 | Ciliary dyskinesia |
| RTEL1 | Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure |
| SCN4A | Hyperkalemic periodic paralysis, Myasthenic syndrome, congenital, Myotonia, potassium-aggravated, Normokalemic potassium-sensitive periodic paralysis, Paramyotonia congenita |
| SCNN1A | Bronchiectasis with or without elevated sweat chloride, Pseudohypoaldosteronism |
| SCNN1B | Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism |
| SERPINA1 | Alpha-1-antitrypsin deficiency |
| SFTPA1 | Idiopathic pulmonary fibrosis |
| SFTPA2 | Pulmonary fibrosis, idiopathic |
| SFTPB | Surfactant metabolism dysfunction, pulmonary |
| SFTPC | Surfactant metabolism dysfunction, pulmonary |
| SLC6A5 | Hyperekplexia |
| SLC7A7 | Lysinuric protein intolerance |
| SLC34A2 | Pulmonary alveolar microlithiasis |
| SMPD1 | Niemann-Pick disease |
| STAT3 | Autoimmune disease, multisystem, infantile onset, Hyper-IgE recurrent infection syndrome |
| TERC | Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related |
| TERT | Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related |
| TINF2 | Dyskeratosis congenita, Revesz syndrome |
| TSC1 | Lymphangioleiomyomatosis, Tuberous sclerosis |
| TSC2 | Lymphangioleiomyomatosis, Tuberous sclerosis |
| ZEB2 | Mowat-Wilson syndrome |
CCDC39 | Ciliary dyskinesia |
CCDC40 | Ciliary dyskinesia |
CFTR | Cystic fibrosis |
DNAAF1 | Ciliary dyskinesia |
DNAAF2 | Ciliary dyskinesia |
DNAH5 | Ciliary dyskinesia |
DNAH11 | Ciliary dyskinesia |
DNAI1 | Ciliary dyskinesia |
DNAI2 | Ciliary dyskinesia |
DNAL1 | Ciliary dyskinesia |
NME8 | Ciliary dyskinesia |
RSPH4A | Ciliary dyskinesia |
RSPH9 | Ciliary dyskinesia |
SCNN1A | Bronchiectasis with or without elevated sweat chloride, Pseudohypoaldosteronism |
SCNN1B | Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism |
ARMC4 | Ciliary dyskinesia |
C21ORF59 | Ciliary dyskinesia |
CCDC39 | Ciliary dyskinesia |
CCDC40 | Ciliary dyskinesia |
CCDC65 | Ciliary dyskinesia |
CCDC103 | Ciliary dyskinesia |
CCDC114 | Ciliary dyskinesia |
CCNO | Ciliary dyskinesia |
CENPF | Ciliary dyskinesia -Lethal Ciliopathy |
CFTR | Cystic fibrosis |
DNAAF1 | Ciliary dyskinesia |
DNAAF2 | Ciliary dyskinesia |
DNAAF3 | Primary ciliary dyskinesia |
DNAAF5 | Ciliary dyskinesia |
DNAH5 | Ciliary dyskinesia |
DNAH11 | Ciliary dyskinesia |
DNAI1 | Ciliary dyskinesia |
DNAI2 | Ciliary dyskinesia |
DNAL1 | Ciliary dyskinesia |
DRC1 | Primary ciliary dyskinesia |
DYX1C1 | Ciliary dyskinesia |
HYDIN | Primary ciliary dyskinesia |
INVS | Nephronophthisis |
LRRC6 | Ciliary dyskinesia |
NME8 | Ciliary dyskinesia |
OFD1 | Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome |
RPGR | Retinitis pigmentosa |
RSPH1 | Ciliary dyskinesia |
RSPH4A | Ciliary dyskinesia |
RSPH9 | Ciliary dyskinesia |
SPAG1 | Primary ciliary dyskinesia |
ZMYND10 | Ciliary dyskinesia |
ABCA3 | Interstitial lung disease, Surfactant metabolism dysfunction, pulmonary |
CSF2RA | Surfactant metabolism dysfunction, pulmonary |
DKC1 | Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome |
ELMOD2 | Familial idiopathic pulmonary fibrosis |
HPS1 | Hermansky-Pudlak syndrome |
HPS4 | Hermansky-Pudlak syndrome |
ITGA3 | Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa |
NF1 | Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome |
NKX2-1 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Thyroid cancer, nonmedullary |
PARN | Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure |
RTEL1 | Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure |
SFTPA1 | Idiopathic pulmonary fibrosis |
SFTPA2 | Pulmonary fibrosis, idiopathic |
SFTPB | Surfactant metabolism dysfunction, pulmonary |
SFTPC | Surfactant metabolism dysfunction, pulmonary |
SLC7A7 | Lysinuric protein intolerance |
SLC34A2 | Pulmonary alveolar microlithiasis |
SMPD1 | Niemann-Pick disease |
STAT3 | Autoimmune disease, multisystem, infantile onset, Hyper-IgE recurrent infection syndrome |
TERC | Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related |
TERT | Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related |
TINF2 | Dyskeratosis congenita, Revesz syndrome |
TSC1 | Lymphangioleiomyomatosis, Tuberous sclerosis |
TSC2 | Lymphangioleiomyomatosis, Tuberous sclerosis |
EFEMP2 | Cutis laxa |
ELN | Cutis laxa, Supravalvular aortic stenosis |
FBLN5 | Cutis laxa, Macular degeneration, age-related |
FLCN | Birt-Hogg-Dube syndrome, Pneumothorax, primary spontaneous |
LTBP4 | Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities |
SERPINA1 | Alpha-1-antitrypsin deficiency |
TSC1 | Lymphangioleiomyomatosis, Tuberous sclerosis |
TSC2 | Lymphangioleiomyomatosis, Tuberous sclerosis |
CFTR | Cystic fibrosis |
ACVRL1 | Hereditary hemorrhagic telangiectasia |
BMPR2 | Pulmonary hypertension, primary, Pulmonary venoocclusive disease |
CAV1 | Lipodystrophy, congenital generalized, Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome |
EIF2AK4 | Pulmonary venoocclusive disease |
ENG | Hereditary hemorrhagic telangiectasia, Juvenile polyposis syndrome |
FOXF1 | Alveolar capillary dysplasia with misalignment of pulmonary veins |
KCNA5 | Atrial fibrillation |
KCNK3 | Pulmonary artery hypertension |
RASA1 | Capillary malformation-arteriovenous malformation, Parkes Weber syndrome, Spinal arteriovenous anomalies |
SMAD4 | Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal |
TBX4 |
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ABCA3 | Interstitial lung disease, Surfactant metabolism dysfunction, pulmonary |
FOXF1 | Alveolar capillary dysplasia with misalignment of pulmonary veins |
NKX2-1 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Thyroid cancer, nonmedullary |
SFTPB | Surfactant metabolism dysfunction, pulmonary |
SFTPC | Surfactant metabolism dysfunction, pulmonary |
ABCA3 | Interstitial lung disease, Surfactant metabolism dysfunction, pulmonary |
AP3B1 | Hermansky-Pudlak syndrome |
BLOC1S3 | Hermansky-Pudlak syndrome |
BLOC1S6 | Hermansky-Pudlak syndrome |
DKC1 | Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome |
DTNBP1 | Hermansky-Pudlak syndrome |
GPR143 | Nystagmus, congenital, Ocular albinism |
HPS1 | Hermansky-Pudlak syndrome |
HPS3 | Hermansky-Pudlak syndrome |
HPS4 | Hermansky-Pudlak syndrome |
HPS5 | Hermansky-Pudlak syndrome |
HPS6 | Hermansky-Pudlak syndrome |
LYST | Chediak-Higashi syndrome |
OCA2 | Albinism, brown oculocutaneous, Albinism, oculocutaneous, Skin/hair/eye pigmentation |
SFTPB | Surfactant metabolism dysfunction, pulmonary |
SFTPC | Surfactant metabolism dysfunction, pulmonary |
SLC45A2 | Oculocutaneous albinism, Skin/hair/eye pigmentation |
TERC | Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related |
TERT | Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related |
TINF2 | Dyskeratosis congenita, Revesz syndrome |
TYR | Albinism, oculocutaneous |
TYRP1 | Albinism, oculocutaneous |
CHAT | Myasthenic syndrome, congenital |
CHRNA1 | Myasthenic syndrome, congenital |
CHRNB1 | Myasthenic syndrome |
CHRND | Myasthenic syndrome |
CHRNE | Myasthenic syndrome |
COLQ | Myasthenic syndrome, congenital |
EDN3 | Central hypoventilation syndrome, congenital, Hirschsprung disease, Waardenburg syndrome |
GLRA1 | Hyperekplexia |
MECP2 | Angelman-like syndrome, Autism, Encephalopathy, Mental retardation, Rett syndrome |
PHOX2B | Central hypoventilation syndrome, congenital, Neuroblastoma with Hirschsprung disease, Neuroblastoma, susceptiblity to |
RAPSN | Myasthenic syndrome, congenital |
RET | Central hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma |
SCN4A | Hyperkalemic periodic paralysis, Myasthenic syndrome, congenital, Myotonia, potassium-aggravated, Normokalemic potassium-sensitive periodic paralysis, Paramyotonia congenita |
SLC6A5 | Hyperekplexia |
ZEB2 | Mowat-Wilson syndrome |
EXOMA.
OTROS ESTUDIOS:
- Fibrosis Quística Delta F 508.
- Fibrosis Quística, secuenciación.
- Fibrosis Quística, variante 5t.
