Pneumology
Detection of a genetic cause of respiratory-related diseases provides you with results for the treatment of your patients. We support you with robust genetic diagnostics of inherited diseases that covers the majority of known associated genes. By establishing a comprehensive diagnosis through genetic testing, treatment options are accelerated.
Pulmonary panel
Our pulmonary panel includes genes for the diagnosis of central hypoventilation, surfactant metabolism dysfunction, pulmonary hypertension among other pulmonary diseases.
| No. of genes: | 101 |
|---|---|
| TAT: | 25 days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
Repeat expansion analysis: PHOX2B
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABCA3 | 601615 | Surfactant metabolism dysfunction, pulmonary, 3 | AR |
| ABCC8 | 600509 | Diabetes mellitus, transient neonatal 2 | - |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| Hyperinsulinemic hypoglycemia, familial, 1 | AD, AR | ||
| Hypoglycemia of infancy, leucine-sensitive | AD | ||
| Diabetes mellitus, permanent neonatal 3, with or without neurologic features | AD, AR | ||
| ACVRL1 | 601284 | Telangiectasia, hereditary hemorrhagic, type 2 | AD |
| AP3B1 | 603401 | Hermansky-Pudlak syndrome 2 | AR |
| AQP1 | 107776 | [Blood group, Colton] | - |
| [Aquaporin-1 deficiency] | - | ||
| ASCL1 | 100790 | Central hypoventilation syndrome, congenital | AD |
| Haddad syndrome | AD | ||
| BLOC1S3 | 609762 | Hermansky-Pudlak syndrome 8 | AR |
| BMPR1B | 603248 | Brachydactyly, type A2 | AD |
| Acromesomelic dysplasia, Demirhan type | AR | ||
| Brachydactyly, type A1, D | AD | ||
| BMPR2 | 600799 | Pulmonary hypertension, familial primary, 1, with or without HHT | AD |
| Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated | AD | ||
| Pulmonary venoocclusive disease 1 | AD | ||
| CAV1 | 601047 | Pulmonary hypertension, primary, 3 | AD |
| Lipodystrophy, familial partial, type 7 | AD | ||
| ?Lipodystrophy, congenital generalized, type 3 | AR | ||
| CCDC39 | 613798 | Ciliary dyskinesia, primary, 14 | AR |
| CCDC40 | 613799 | Ciliary dyskinesia, primary, 15 | AR |
| CFAP300 | 618058 | Ciliary dyskinesia, primary, 38 | AR |
| CFTR | 602421 | Congenital bilateral absence of vas deferens | AR |
| Pancreatitis, hereditary | AD | ||
| Bronchiectasis with or without elevated sweat chloride 1, modifier of | AD | ||
| Cystic fibrosis | AR | ||
| CHAT | 118490 | Myasthenic syndrome, congenital, 6, presynaptic | AR |
| CHRNA1 | 100690 | Myasthenic syndrome, congenital, 1B, fast-channel | AD, AR |
| Myasthenic syndrome, congenital, 1A, slow-channel | AD | ||
| Multiple pterygium syndrome, lethal type | AR | ||
| CHRNB1 | 100710 | Myasthenic syndrome, congenital, 2A, slow-channel | AD |
| ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency | AR | ||
| CHRND | 100720 | ?Myasthenic syndrome, congenital, 3A, slow-channel | AD |
| Myasthenic syndrome, congenital, 3B, fast-channel | AR | ||
| Multiple pterygium syndrome, lethal type | AR | ||
| ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency | AR | ||
| CHRNE | 100725 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | AR |
| Myasthenic syndrome, congenital, 4A, slow-channel | AD, AR | ||
| Myasthenic syndrome, congenital, 4B, fast-channel | AR | ||
| COLQ | 603033 | Myasthenic syndrome, congenital, 5 | AR |
| CSF2RB | 138981 | Surfactant metabolism dysfunction, pulmonary, 5 | AR |
| DKC1 | 300126 | Dyskeratosis congenita, X-linked | XLR |
| DNAAF1 | 613190 | Ciliary dyskinesia, primary, 13 | AR |
| DNAAF2 | 612517 | Ciliary dyskinesia, primary, 10 | AR |
| DNAAF6 | 300933 | Ciliary dyskinesia, primary, 36, X-linked | XLR |
| DNAH1 | 603332 | Spermatogenic failure 18 | AR |
| ?Ciliary dyskinesia, primary, 37 | AR | ||
| DNAH11 | 603339 | Ciliary dyskinesia, primary, 7, with or without situs inversus | AR |
| DNAH5 | 603335 | Ciliary dyskinesia, primary, 3, with or without situs inversus | AR |
| DNAH9 | 603330 | Ciliary dyskinesia, primary, 40 | AR |
| DNAI1 | 604366 | Ciliary dyskinesia, primary, 1, with or without situs inversus | AR |
| DNAI2 | 605483 | Ciliary dyskinesia, primary, 9, with or without situs inversus | AR |
| DNAL1 | 610062 | Ciliary dyskinesia, primary, 16 | AR |
| DOCK8 | 611432 | Hyper-IgE recurrent infection syndrome, autosomal recessive | AR |
| DTNBP1 | 607145 | Hermansky-Pudlak syndrome 7 | AR |
| EDN3 | 131242 | Waardenburg syndrome, type 4B | AD, AR |
| Hirschsprung disease, susceptibility to, 4 | AD | ||
| Central hypoventilation syndrome, congenital | AD | ||
| EFEMP2 | 604633 | Cutis laxa, autosomal recessive, type IB | AR |
| EIF2AK4 | 609280 | Pulmonary venoocclusive disease 2 | AR |
| ELN | 130160 | Cutis laxa, autosomal dominant | AD |
| Supravalvar aortic stenosis | AD | ||
| ENG | 131195 | Telangiectasia, hereditary hemorrhagic, type 1 | AD |
| FAM111B | 615584 | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis | AD |
| FBLN5 | 604580 | Cutis laxa, autosomal recessive, type IA | AR |
| Neuropathy, hereditary, with or without age-related macular degeneration | AD | ||
| Charcot-Marie-Tooth disease, demyelinating, type 1H | AD | ||
| Macular degeneration, age-related, 3 | AD | ||
| ?Cutis laxa, autosomal dominant 2 | AD | ||
| FBN1 | 134797 | Marfan lipodystrophy syndrome | AD |
| Geleophysic dysplasia 2 | AD | ||
| Acromicric dysplasia | AD | ||
| Marfan syndrome | AD | ||
| Weill-Marchesani syndrome 2, dominant | AD | ||
| Stiff skin syndrome | AD | ||
| MASS syndrome | AD | ||
| Ectopia lentis, familial | AD | ||
| FLCN | 607273 | Birt-Hogg-Dube syndrome | AD |
| Pneumothorax, primary spontaneous | AD | ||
| Renal carcinoma, chromophobe, somatic | - | ||
| Colorectal cancer, somatic | - | ||
| FOXF1 | 601089 | Alveolar capillary dysplasia with misalignment of pulmonary veins | AD |
| GAS8 | 605178 | Ciliary dyskinesia, primary, 33 | AR |
| GDF2 | 605120 | Telangiectasia, hereditary hemorrhagic, type 5 | AD |
| GDNF | 600837 | Pheochromocytoma, modifier of | AD |
| Central hypoventilation syndrome | AD | ||
| Hirschsprung disease, susceptibility to, 3 | AD | ||
| GLRA1 | 138491 | Hyperekplexia 1 | AD, AR |
| HPS1 | 604982 | Hermansky-Pudlak syndrome 1 | AR |
| HPS3 | 606118 | Hermansky-Pudlak syndrome 3 | AR |
| HPS4 | 606682 | Hermansky-Pudlak syndrome 4 | AR |
| HPS5 | 607521 | Hermansky-Pudlak syndrome 5 | AR |
| HPS6 | 607522 | Hermansky-Pudlak syndrome 6 | AR |
| ITGA3 | 605025 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | AR |
| KCNA5 | 176267 | Atrial fibrillation, familial, 7 | AD |
| KCNK3 | 603220 | Pulmonary hypertension, primary, 4 | AD |
| MECP2 | 300005 | Rett syndrome, preserved speech variant | XLD |
| Encephalopathy, neonatal severe | XLR | ||
| Mental retardation, X-linked, syndromic 13 | XLR | ||
| Rett syndrome | XLD | ||
| Mental retardation, X-linked syndromic, Lubs type | XLR | ||
| Rett syndrome, atypical | XLD | ||
| Autism susceptibility, X-linked 3 | XL | ||
| NEK10 | 618726 | Ciliary dyskinesia, primary, 44 | AR |
| NF1 | 613113 | Watson syndrome | AD |
| Leukemia, juvenile myelomonocytic | AD, SM | ||
| Neurofibromatosis, type 1 | AD | ||
| Neurofibromatosis, familial spinal | AD | ||
| Neurofibromatosis-Noonan syndrome | AD | ||
| NFU1 | - | Multiple mitochondrial dysfunctions syndrome 1 | AR |
| NKX2-1 | 600635 | Chorea, hereditary benign | AD |
| Choreoathetosis, hypothyroidism, and neonatal respiratory distress | AD | ||
| Thyroid cancer, nonmedullary, 1 | AD | ||
| NME8 | 607421 | Ciliary dyskinesia, primary, 6 | AR |
| NOP10 | 606471 | Dyskeratosis congenita, autosomal recessive 1 | AR |
| NOTCH3 | 600276 | ?Myofibromatosis, infantile 2 | AD |
| Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 | AD | ||
| Lateral meningocele syndrome | AD | ||
| PARN | 604212 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 | AD |
| Dyskeratosis congenita, autosomal recessive 6 | AR | ||
| PHOX2A | 602753 | Fibrosis of extraocular muscles, congenital, 2 | AR |
| PHOX2B | 603851 | Central hypoventilation syndrome, congenital, with or without Hirschsprung disease | AD |
| Neuroblastoma, susceptibility to, 2 | - | ||
| Neuroblastoma with Hirschsprung disease | - | ||
| POLD1 | 174761 | Colorectal cancer, susceptibility to, 10 | AD |
| Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | AD | ||
| RAPSN | 601592 | Fetal akinesia deformation sequence 2 | AR |
| Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | AR | ||
| RASA1 | 139150 | Basal cell carcinoma, somatic | - |
| Capillary malformation-arteriovenous malformation 1 | AD | ||
| RET | 164761 | Hirschsprung disease, susceptibility to, 1 | AD |
| Multiple endocrine neoplasia IIA | AD | ||
| Medullary thyroid carcinoma | AD | ||
| Pheochromocytoma | AD | ||
| Multiple endocrine neoplasia IIB | AD | ||
| Hirschsprung disease, protection against | AD | ||
| Central hypoventilation syndrome, congenital | AD | ||
| RSPH1 | 609314 | Ciliary dyskinesia, primary, 24 | AR |
| RSPH3 | 615876 | Ciliary dyskinesia, primary, 32 | AR |
| RSPH4A | 612647 | Ciliary dyskinesia, primary, 11 | - |
| RSPH9 | 612648 | Ciliary dyskinesia, primary, 12 | - |
| RTEL1 | 608833 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 | AD |
| Dyskeratosis congenita, autosomal dominant 4 | AD, AR | ||
| Dyskeratosis congenita, autosomal recessive 5 | AD, AR | ||
| SARS2 | 612804 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | AR |
| SCN4A | 603967 | Paramyotonia congenita | AD |
| Myotonia congenita, atypical, acetazolamide-responsive | AD | ||
| Myasthenic syndrome, congenital, 16 | AR | ||
| Hyperkalemic periodic paralysis, type 2 | AD | ||
| Hypokalemic periodic paralysis, type 2 | AD | ||
| SCNN1A | 600228 | Pseudohypoaldosteronism, type I | AR |
| ?Liddle syndrome 3 | AD | ||
| Bronchiectasis with or without elevated sweat chloride 2 | AD | ||
| SCNN1B | 600760 | Bronchiectasis with or without elevated sweat chloride 1 | AD |
| Pseudohypoaldosteronism, type I | AR | ||
| Liddle syndrome 1 | AD | ||
| Pseudohypoaldosteronism, type IB2, autosomal recessive | - | ||
| SCNN1G | 600761 | Pseudohypoaldosteronism, type I | AR |
| Liddle syndrome 2 | AD | ||
| Bronchiectasis with or without elevated sweat chloride 3 | AD | ||
| Pseudohypoaldosteronism, type IB3, autosomal recessive | - | ||
| SERPINA1 | 107400 | Hemorrhagic diathesis due to antithrombin Pittsburgh | AR |
| Emphysema-cirrhosis, due to AAT deficiency | AR | ||
| Emphysema due to AAT deficiency | AR | ||
| SFTPA2 | 178642 | Pulmonary fibrosis, idiopathic | AD |
| SFTPB | 178640 | Surfactant metabolism dysfunction, pulmonary, 1 | AR |
| SFTPC | 178620 | Surfactant metabolism dysfunction, pulmonary, 2 | AD |
| SLC34A2 | 604217 | Pulmonary alveolar microlithiasis | AR |
| SLC6A5 | 604159 | Hyperekplexia 3 | AD, AR |
| SLC7A7 | 603593 | Lysinuric protein intolerance | AR |
| SMAD4 | 600993 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | AD |
| Pancreatic cancer, somatic | - | ||
| Myhre syndrome | AD | ||
| Polyposis, juvenile intestinal | AD | ||
| SMAD9 | 603295 | Pulmonary hypertension, primary, 2 | AD |
| SMPD1 | 607608 | Niemann-Pick disease, type A | AR |
| Niemann-Pick disease, type B | AR | ||
| SOX17 | 610928 | Vesicoureteral reflux 3 | AD |
| STAT3 | 102582 | Hyper-IgE recurrent infection syndrome | AD |
| Autoimmune disease, multisystem, infantile-onset, 1 | AD | ||
| STING1 | 612374 | STING-associated vasculopathy, infantile-onset | AD |
| STRA6 | 610745 | Microphthalmia, isolated, with coloboma 8 | AR |
| Microphthalmia, syndromic 9 | AR | ||
| TBX4 | 601719 | Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome | AR |
| Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension | AD | ||
| TERT | 187270 | Melanoma, cutaneous malignant, 9 | - |
| Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 | AD | ||
| Dyskeratosis congenita, autosomal dominant 2 | AD, AR | ||
| Leukemia, acute myeloid | AD, SM | ||
| Dyskeratosis congenita, autosomal recessive 4 | AD, AR | ||
| TINF2 | 604319 | Revesz syndrome | AD |
| Dyskeratosis congenita, autosomal dominant 3 | AD | ||
| TSC1 | 605284 | Lymphangioleiomyomatosis | - |
| Focal cortical dysplasia, type II, somatic | - | ||
| Tuberous sclerosis-1 | AD | ||
| TSC2 | 191092 | ?Focal cortical dysplasia, type II, somatic | - |
| Lymphangioleiomyomatosis, somatic | - | ||
| Tuberous sclerosis-2 | AD | ||
| ZEB2 | 605802 | Mowat-Wilson syndrome | AD |
COMMON SYNDROMES AND DISORDERS COVERED
- Central hypoventilation syndrome
- Comprehensive pulmonary disease
- Pulmonary hypertension
- Surfactant metabolism dysfunction
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