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.

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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:	92
TAT:	25 days
New Coverage:	≥99.0% ≥20x
Details:	CNV analysis included Repeat expansion analysis: PHOX2B

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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;Hyperinsulinemic hypoglycemia, familial, 1;Hypoglycemia of infancy, leucine-sensitive;Diabetes mellitus, permanent neonatal 3, with or without neurologic features	AD, 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;Haddad syndrome	AD
BLOC1S3	609762	Hermansky-Pudlak syndrome 8	AR
BMPR1B	603248	Brachydactyly, type A2;Acromesomelic dysplasia, Demirhan type;Brachydactyly, type A1, D	AD, AR
BMPR2	600799	Pulmonary hypertension, familial primary, 1, with or without HHT;Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated;Pulmonary venoocclusive disease 1	AD
CAV1	601047	Pulmonary hypertension, primary, 3;Lipodystrophy, familial partial, type 7;?Lipodystrophy, congenital generalized, type 3	AD, 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;Pancreatitis, hereditary;Bronchiectasis with or without elevated sweat chloride 1, modifier of;Cystic fibrosis	AR, AD
CHAT	118490	Myasthenic syndrome, congenital, 6, presynaptic	AR
CHRNA1	100690	Myasthenic syndrome, congenital, 1B, fast-channel;Myasthenic syndrome, congenital, 1A, slow-channel;Multiple pterygium syndrome, lethal type	AD, AR, AD, AR
CHRNB1	100710	Myasthenic syndrome, congenital, 2A, slow-channel;?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency	AD, AR
CHRND	100720	?Myasthenic syndrome, congenital, 3A, slow-channel;Myasthenic syndrome, congenital, 3B, fast-channel;Multiple pterygium syndrome, lethal type;?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency	AD, AR
CHRNE	100725	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency;Myasthenic syndrome, congenital, 4A, slow-channel;Myasthenic syndrome, congenital, 4B, fast-channel	AR, AD, AR
COLQ	603033	Myasthenic syndrome, congenital, 5	AR
CSF2RB	138981	Surfactant metabolism dysfunction, pulmonary, 5	AR
DKC1	300126	Dyskeratosis congenita, XL	XLR
DNAAF1	613190	Ciliary dyskinesia, primary, 13	AR
DNAAF2	612517	Ciliary dyskinesia, primary, 10	AR
DNAAF6	300933	Ciliary dyskinesia, primary, 36, XL	XLR
DNAH1	603332	Spermatogenic failure 18;?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, AR	AR
DTNBP1	607145	Hermansky-Pudlak syndrome 7	AR
EDN3	131242	Waardenburg syndrome, type 4B;Hirschsprung disease, susceptibility to, 4;Central hypoventilation syndrome, congenital	AD, AR, AD
EFEMP2	604633	Cutis laxa, autosomal recessive, type IB	AR
EIF2AK4	609280	Pulmonary venoocclusive disease 2	AR
ELN	130160	Cutis laxa, 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;Neuropathy, hereditary, with or without age-related macular degeneration;Macular degeneration, age-related, 3;?Cutis laxa, AD 2	AR, AD
FBN1	134797	Marfan lipodystrophy syndrome;Geleophysic dysplasia 2;Acromicric dysplasia;Marfan syndrome;Weill-Marchesani syndrome 2, dominant;Stiff skin syndrome;MASS syndrome;Ectopia lentis, familial	AD
FLCN	607273	Birt-Hogg-Dube syndrome;Pneumothorax, primary spontaneous;Renal carcinoma, chromophobe, somatic;Colorectal cancer, somatic	AD
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;Central hypoventilation syndrome;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;Encephalopathy, neonatal severe;Mental retardation, X-linked, syndromic 13;Rett syndrome;Mental retardation, X-linked syndromic, Lubs type;Rett syndrome, atypical;Autism susceptibility, X-linked 3	XLD, XLR, XL
NEK10	618726	Ciliary dyskinesia, primary, 44	AR
NF1	613113	Watson syndrome;Leukemia, juvenile myelomonocytic;Neurofibromatosis, type 1;Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome	AD, AD, SM
NFU1	608100	Multiple MT dysfunctions syndrome 1	AR
NKX2-1	600635	Chorea, hereditary benign;Choreoathetosis, hypothyroidism, and neonatal respiratory distress;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;Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1;Lateral meningocele syndrome	AD
PARN	604212	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4;Dyskeratosis congenita, autosomal recessive 6	AD, AR
PHOX2A	602753	Fibrosis of extraocular muscles, congenital, 2	AR
PHOX2B	603851	Central hypoventilation syndrome, congenital, with or without Hirschsprung disease;Neuroblastoma, susceptibility to, 2;Neuroblastoma with Hirschsprung disease	AD
POLD1	174761	Colorectal cancer, susceptibility to, 10;Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	AD
RAPSN	601592	Fetal akinesia deformation sequence 2;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;Multiple endocrine neoplasia IIA;Medullary thyroid carcinoma;Pheochromocytoma;Multiple endocrine neoplasia IIB;Hirschsprung disease, protection against;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;Dyskeratosis congenita, AD 4;Dyskeratosis congenita, autosomal recessive 5	AD, AD, AR
SARS2	612804	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis	AR
SCN4A	603967	Paramyotonia congenita;Myotonia congenita, atypical, acetazolamide-responsive;Myasthenic syndrome, congenital, 16;Hyperkalemic periodic paralysis, type 2;Hypokalemic periodic paralysis, type 2	AD, AR
SCNN1A	600228	Pseudohypoaldosteronism, type I;?Liddle syndrome 3;Bronchiectasis with or without elevated sweat chloride 2	AR, AD
SCNN1B	600760	Bronchiectasis with or without elevated sweat chloride 1;Pseudohypoaldosteronism, type I;Liddle syndrome 1	AD, AR
SCNN1G	600761	Pseudohypoaldosteronism, type I;Liddle syndrome 2;Bronchiectasis with or without elevated sweat chloride 3	AR, AD
SERPINA1	107400	Hemorrhagic diathesis due to antithrombin Pittsburgh;Emphysema-cirrhosis, due to AAT deficiency;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;Pancreatic cancer, somatic;Myhre syndrome;Polyposis, juvenile intestinal	AD
SMAD9	603295	Pulmonary hypertension, primary, 2	AD
SMPD1	607608	Niemann-Pick disease, type A;Niemann-Pick disease, type B	AR
SOX17	610928	Vesicoureteral reflux 3	AD
STAT3	102582	Hyper-IgE recurrent infection syndrome;Autoimmune disease, multisystem, infantile-onset, 1	AD
STING1	612374	STING-associated vasculopathy, infantile-onset	AD
STRA6	610745	Microphthalmia, isolated, with coloboma 8;Microphthalmia, syndromic 9	AR
TBX4	601719	Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome;Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	AR, AD
TERT	187270	Melanoma, cutaneous malignant, 9;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1;Dyskeratosis congenita, AD 2;Leukemia, acute myeloid;Dyskeratosis congenita, autosomal recessive 4	AD, AD, AR, AD, SM
TINF2	604319	Revesz syndrome;Dyskeratosis congenita, AD 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
PHOX2B	603851	Central hypoventilation syndrome, congenital, with or without Hirschsprung disease;Neuroblastoma, susceptibility to, 2;Neuroblastoma with Hirschsprung disease	AD

COMMON SYNDROMES AND DISORDERS COVERED

Central hypoventilation syndrome
Comprehensive pulmonary disease
Pulmonary hypertension
Surfactant metabolism dysfunction

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Pneumology

Visit Our Online Ordering Portal

CentoPortal® is a user-friendly, online, web-based ordering portal designed to assist you at every step of processing your patients' samples.

CentoPortal^® is a user-friendly, online, web-based ordering portal designed to assist you at every step of processing your patients' samples.