Ear, Nose, and Throat

The ear is essential for many of our most basic functions. It is crucial to distinguish between genetic disorders and those caused by environmental factors as early as possible. Rapid and informative postnatal testing for genetic disorders of the ear, nose, and throat allow for genetic counseling and may facilitate early interventions to significantly improve prognoses. We have identified genetic variants associated with diseases related to hearing -loss in over 190 different genes. Our testing options can help pinpoint the exact cause of inherited deafness and related syndromes.

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CentoHear

Hearing loss is a common condition in children, affecting 1 in 100 live births. In more than 50% of the cases, there is a genetic cause for this disorder, from which 70% cause non-syndromic hearing loss. CentoHear includes genes associated with syndromic and non-syndromic hearing loss. Both autosomal recessive and dominant cases are included in the panel. In addition, CentoHear includes several other syndromes, including Alport, Pendred, Waardenburg, Usher, and branchio-oto-renal, among others.

No. of genes:	196
TAT:	25 days
Coverage:	≥99.0% ≥20x
Details:	CNV analysis included

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
ABHD12	613599	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	AR
ACTB	102630	Baraitser-Winter syndrome 1;?Dystonia, juvenile-onset	AD
ACTG1	102560	Baraitser-Winter syndrome 2;Deafness, AD 20/26	AD
ADCY1	103072	?Deafness, autosomal recessive 44	AR
ADGRV1	602851	Usher syndrome, type 2C;?Febrile seizures, familial, 4;Usher syndrome, type 2C, GPR98/PDZD7 digenic	AR, DD, AD
AIFM1	300169	Cowchock syndrome;Combined oxidative phosphorylation deficiency 6;Deafness, X-linked 5;Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy	XLR
ANKH	605145	Chondrocalcinosis 2;Craniometaphyseal dysplasia	AD
ATP2B2	108733	Deafness, autosomal recessive 12, modifier of	AR
ATP6V1B1	192132	Distal renal tubular acidosis 2 with progressive sensorineural hearing loss	AR
ATP6V1B2	606939	Zimmermann-Laband syndrome 2;Deafness, congenital, with onychodystrophy, AD	AD
BCS1L	603647	GRACILE syndrome;Bjornstad syndrome;MT complex III deficiency, nuclear type 1	AR
BDP1	607012	?Deafness, autosomal recessive 112	AR
BSND	606412	Bartter syndrome, type 4a;Sensorineural deafness with mild renal dysfunction	AR
BTD	609019	Biotinidase deficiency	AR
CABP2	607314	Deafness, autosomal recessive 93	AR
CACNA1D	114206	Primary aldosteronism, seizures, and neurologic abnormalities;Sinoatrial node dysfunction and deafness	AD, AR
CCDC50	611051	?Deafness, AD 44	AD
CD151	602243	[Blood group, Raph];Nephropathy with pretibial epidermolysis bullosa and deafness
CD164	603356	?Deafness, AD 66	AD
CDC14A	603504	Deafness, autosomal recessive 32, with or without immotile sperm	AR
CDH23	605516	Deafness, autosomal recessive 12;Usher syndrome, type 1D;Usher syndrome, type 1D/F digenic;Pituitary adenoma 5, multiple types	AR, AR, DR, AD
CDKN1C	600856	IMAGE syndrome;Beckwith-Wiedemann syndrome	AD
CEACAM16	614591	Deafness, autosomal recessive 113;Deafness, AD 4B	AR, AD
CEP78	617110	Cone-rod dystrophy and hearing loss	AR
CHD7	608892	CHARGE syndrome;Hypogonadotropic hypogonadism 5 with or without anosmia	AD
CHSY1	608183	Temtamy preaxial brachydactyly syndrome	AR
CIB2	605564	Usher syndrome, type IJ;Deafness, autosomal recessive 48	AR
CISD2	611507	Wolfram syndrome 2	AR
CLDN14	605608	Deafness, autosomal recessive 29	AR
CLIC5	607293	?Deafness, autosomal recessive 103	AR
CLPP	601119	Perrault syndrome 3	AR
CLRN1	606397	Retinitis pigmentosa 61;Usher syndrome, type 3A	AR
COCH	603196	Deafness, AD 9;?Deafness, autosomal recessive 110	AD, AR
COL11A1	120280	Marshall syndrome;Fibrochondrogenesis 1;Lumbar disc herniation, susceptibility to;?Deafness, AD 37;Stickler syndrome, type II	AD, AR
COL11A2	120290	Deafness, autosomal recessive 53;Otospondylomegaepiphyseal dysplasia, AR;Fibrochondrogenesis 2;Otospondylomegaepiphyseal dysplasia, AD;Deafness, AD 13	AR, AD, AR, AD
COL2A1	120140	Legg-Calve-Perthes disease;Stickler syndrome, type I;Osteoarthritis with mild chondrodysplasia;Platyspondylic skeletal dysplasia, Torrance type;Spondyloepiphyseal dysplasia, Stanescu type;Kniest dysplasia;Czech dysplasia;Stickler sydrome, type I, nonsyndromic ocular;?Vitreoretinopathy with phalangeal epiphyseal dysplasia;?Epiphyseal dysplasia, multiple, with myopia and deafness;Avascular necrosis of the femoral head;Spondyloperipheral dysplasia;Achondrogenesis, type II or hypochondrogenesis;SMED Strudwick type;SED congenita	AD
COL4A3	120070	Alport syndrome 3, AD;Hematuria, benign familial;Alport syndrome 2, AR	AD, AR
COL4A4	120131	Alport syndrome 2, AR;Hematuria, familial benign	AR, AD
COL4A5	303630	Alport syndrome 1, XL	XLD
COL4A6	303631	?Deafness, X-linked 6	XLR
COL9A1	120210	?Epiphyseal dysplasia, multiple, 6;Stickler syndrome, type IV	AD
COL9A2	120260	?Stickler syndrome, type V;Epiphyseal dysplasia, multiple, 2	AR, AD
COL9A3	120270	Epiphyseal dysplasia, multiple, 3, with or without myopathy;Intervertebral disc disease, susceptibility to	AD
CRYM	123740	Deafness, AD 40	AD
DCAF17	612515	Woodhouse-Sakati syndrome	AR
DCDC2	605755	Nephronophthisis 19;?Deafness, autosomal recessive 66;Sclerosing cholangitis, neonatal	AR
DIABLO	605219	Deafness, AD 64	AD
DIAPH1	602121	Seizures, cortical blindness, microcephaly syndrome;Deafness, AD 1, with or without thrombocytopenia	AR, AD
DIAPH3	614567	Auditory neuropathy, AD, 1	AD
DLX5	600028	?Split-hand/foot malformation 1 with sensorineural hearing loss;Split-hand/foot malformation 1	AR, AD
DMXL2	612186	?Polyendocrine-polyneuropathy syndrome;Developmental and epileptic encephalopathy 81;?Deafness, AD 71	AR, AD
DNMT1	126375	Neuropathy, hereditary sensory, type IE;Cerebellar ataxia, deafness, and narcolepsy, AD	AD
DSPP	125485	Dentinogenesis imperfecta, Shields type III;Dentin dysplasia, type II;Deafness, AD 39, with dentinogenesis;Dentinogenesis imperfecta, Shields type II	AD
EDN3	131242	Waardenburg syndrome, type 4B;Hirschsprung disease, susceptibility to, 4;Central hypoventilation syndrome, congenital	AD, AR, AD
EDNRB	131244	Waardenburg syndrome, type 4A;Hirschsprung disease, susceptibility to, 2;ABCD syndrome	AD, AR, AD, AR
ELMOD3	615427	?Deafness, AD 81;?Deafness, autosomal recessive 88	AD, AR
EPS8	600206	?Deafness, autosomal recessive 102	AR
EPS8L2	614988	Deafness autosomal recessive 106	AR
ESPN	606351	?Usher syndrome, type 1M;Deafness, neurosensory, without vestibular involvement, AD;Deafness, autosomal recessive 36	AR
ESRP1	612959	?Deafness, autosomal recessive 109	AR
ESRRB	602167	Deafness, autosomal recessive 35	AR
EYA1	601653	Anterior segment anomalies with or without cataract;Branchiootorenal syndrome 1, with or without cataracts;?Otofaciocervical syndrome;Branchiootic syndrome 1	AD
EYA4	603550	Deafness, AD 10;?Cardiomyopathy, dilated, 1J	AD
FDXR	103270	Auditory neuropathy and optic atrophy	AR
FGF3	164950	Deafness, congenital with inner ear agenesis, microtia, and microdontia	AR
FGFR1	136350	Osteoglophonic dysplasia;Trigonocephaly 1;Pfeiffer syndrome;Encephalocraniocutaneous lipomatosis, somatic mosaic;Hypogonadotropic hypogonadism 2 with or without anosmia;Jackson-Weiss syndrome;Hartsfield syndrome	AD
FGFR2	176943	Crouzon syndrome;Saethre-Chotzen syndrome;Craniofacial-skeletal-dermatologic dysplasia;Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis;Gastric cancer, somatic;LADD syndrome;Beare-Stevenson cutis gyrata syndrome;Scaphocephaly, maxillary retrusion, and mental retardation;Apert syndrome;Bent bone dysplasia syndrome;Pfeiffer syndrome;Jackson-Weiss syndrome	AD
FGFR3	134934	Achondroplasia;CATSHL syndrome;Thanatophoric dysplasia, type I;Bladder cancer, somatic;Hypochondroplasia;SADDAN;Colorectal cancer, somatic;Crouzon syndrome with acanthosis nigricans;Cervical cancer, somatic;Nevus, epidermal, somatic;Thanatophoric dysplasia, type II;Spermatocytic seminoma, somatic;Muenke syndrome;LADD syndrome	AD, AD, AR
FOXI1	601093	Enlarged vestibular aqueduct	AR
GAB1	604439	?Deafness, autosomal recessive 26	AR
GATA3	131320	Hypoparathyroidism, sensorineural deafness, and renal dysplasia	AD
GIPC3	608792	Deafness, autosomal recessive 15	AR
GJA1	121014	Oculodentodigital dysplasia, AR;Atrioventricular septal defect 3;Syndactyly, type III;Craniometaphyseal dysplasia, AR;Palmoplantar keratoderma with congenital alopecia;Oculodentodigital dysplasia;Hypoplastic left heart syndrome 1;Erythrokeratodermia variabilis et progressiva 3	AR, AD
GJB2	121011	Keratoderma, palmoplantar, with deafness;Keratitis-ichthyosis-deafness syndrome;Deafness, AD 3A;Hystrix-like ichthyosis with deafness;Bart-Pumphrey syndrome;Vohwinkel syndrome;Deafness, autosomal recessive 1A	AD, AR, DD
GJB3	603324	Deafness, AD 2B;Erythrokeratodermia variabilis et progressiva 1;Deafness, digenic, GJB2/GJB3	AD, AD, AR, AR, DD
GJB6	604418	Deafness, autosomal recessive 1B;Deafness, digenic GJB2/GJB6;Ectodermal dysplasia 2, Clouston type;Deafness, AD 3B	AR, AR, DD, AD
GPRASP2	300969	?Deafness, X-linked 7	XLR
GPSM2	609245	Chudley-McCullough syndrome	AR
GRHL2	608576	Deafness, AD 28;Ectodermal dysplasia/short stature syndrome;Corneal dystrophy, posterior polymorphous, 4	AD, AR
GRXCR1	613283	Deafness, autosomal recessive 25	AR
GRXCR2	615762	?Deafness, autosomal recessive 101	AR
GSDME	608798	Deafness, AD 5	AD
HARS1	142810	Usher syndrome type 3B;Charcot-Marie-Tooth disease, axonal, type 2W	AR, AD
HARS2	600783	Perrault syndrome 2	AR
HGF	142409	Deafness, autosomal recessive 39	AR
HOMER2	604799	?Deafness, AD 68	AD
HOXB1	142968	Facial paresis, hereditary congenital, 3	AR
HSD17B4	601860	Perrault syndrome 1;D-bifunctional protein deficiency	AR
ILDR1	609739	Deafness, autosomal recessive 42	AR
KARS1	601421	?Charcot-Marie-Tooth disease, recessive intermediate, B;Deafness, congenital, and adult-onset progressive leukoencephalopathy;Leukoencephalopathy, progressive, infantile-onset, with or without deafness;Deafness, autosomal recessive 89	AR
KCNE1	176261	Jervell and Lange-Nielsen syndrome 2;Long QT syndrome 5	AR, AD
KCNJ10	602208	Enlarged vestibular aqueduct, digenic;SESAME syndrome	AR
KCNQ1	607542	Long QT syndrome 1, acquired, susceptibility to;Jervell and Lange-Nielsen syndrome;Atrial fibrillation, familial, 3;Short QT syndrome 2;Long QT syndrome 1	AD, AR
KCNQ4	603537	Deafness, AD 2A	AD
KIT	164920	Gastrointestinal stromal tumor, familial;Germ cell tumors, somatic;Piebaldism;Leukemia, acute myeloid, somatic;Mastocytosis, systemic, somatic;Mastocytosis, cutaneous	AD, IC, AD
KITLG	184745	[Skin/hair/eye pigmentation 7, blond/brown hair];Deafness, AD 69, unilateral or asymmetric;Hyperpigmentation with or without hypopigmentation	AD
LARS2	604544	?Hydrops, lactic acidosis, and sideroblastic anemia;Perrault syndrome 4	AR
LHFPL5	609427	Deafness, autosomal recessive 67	AR
LOXHD1	613072	Deafness, autosomal recessive 77	AR
LRP2	600073	Donnai-Barrow syndrome	AR
LRTOMT	612414	Deafness, autosomal recessive 63	AR
MAN2B1	609458	Mannosidosis, alpha-, types I and II	AR
MANBA	609489	Mannosidosis, beta	AR
MARVELD2	610572	Deafness, autosomal recessive 49	AR
MCM2	116945	?Deafness, AD 70	AD
MET	164860	Hepatocellular carcinoma, childhood type, somatic;?Deafness, autosomal recessive 97;Osteofibrous dysplasia, susceptibility to;Renal cell carcinoma, papillary, 1, familial and somatic	AR, AD
MGP	154870	Keutel syndrome	AR
MITF	156845	Melanoma, cutaneous malignant, susceptibility to, 8;Waardenburg syndrome, type 2A;Waardenburg syndrome/ocular albinism, digenic;Tietz albinism-deafness syndrome;COMMAD syndrome	AD, AR
MPZL2	604873	Deafness, autosomal recessive 111	AR
MSRB3	613719	Deafness, autosomal recessive 74	AR
MYH14	608568	?Peripheral neuropathy, myopathy, hoarseness, and hearing loss;Deafness, AD 4A	AD
MYH9	160775	Deafness, AD 17;Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	AD
MYO15A	602666	Deafness, autosomal recessive 3	AR
MYO3A	606808	Deafness, autosomal recessive 30	AR
MYO6	600970	Deafness, AD 22, with hypertrophic cardiomyopathy;Deafness, AD 22;Deafness, autosomal recessive 37	AD, AR
MYO7A	276903	Deafness, AD 11;Usher syndrome, type 1B;Deafness, autosomal recessive 2	AD, AR
NARS2	612803	?Deafness, autosomal recessive 94;Combined oxidative phosphorylation deficiency 24	AR
NDP	300658	Norrie disease;Exudative vitreoretinopathy 2, XL	XLR, XLD, XLR
NLRP3	606416	CINCA syndrome;Deafness, AD 34, with or without inflammation;Keratoendothelitis fugax hereditaria;Familial cold inflammatory syndrome 1;Muckle-Wells syndrome	AD
OPA1	605290	Optic atrophy 1;?MT DNA depletion syndrome 14 (encephalocardiomyopathic type);Glaucoma, normal tension, susceptibility to;Optic atrophy plus syndrome;Behr syndrome	AD, AR
OSBPL2	606731	Deafness, AD 67	AD
OTOA	607038	Deafness, autosomal recessive 22	AR
OTOF	603681	Deafness, autosomal recessive 9;Auditory neuropathy, autosomal recessive, 1	AR
OTOG	604487	Deafness, autosomal recessive 18B	AR
OTOGL	614925	Deafness, autosomal recessive 84B	AR
P2RX2	600844	Deafness, AD 41	AD
PAX3	606597	Waardenburg syndrome, type 3;Rhabdomyosarcoma 2, alveolar;Craniofacial-deafness-hand syndrome;Waardenburg syndrome, type 1	AD, AR, SM, AD
PCDH15	605514	Usher syndrome, type 1D/F digenic;Deafness, autosomal recessive 23;Usher syndrome, type 1F	AR, DR, AR
PDZD7	612971	Retinal disease in Usher syndrome type IIA, modifier of;Usher syndrome, type IIC, GPR98/PDZD7 digenic;Deafness, autosomal recessive 57	AR, AR, DD
PEX1	602136	Peroxisome biogenesis disorder 1A (Zellweger);Peroxisome biogenesis disorder 1B (NALD/IRD);Heimler syndrome 1	AR
PEX26	608666	Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B	AR
PEX6	601498	Peroxisome biogenesis disorder 4B;Peroxisome biogenesis disorder 4A (Zellweger);Heimler syndrome 2	AD, AR, AR
PJVK	610219	Deafness, autosomal recessive 59	AR
PMP22	601097	Neuropathy, recurrent, with pressure palsies;Dejerine-Sottas disease;Roussy-Levy syndrome;?Neuropathy, inflammatory demyelinating;Charcot-Marie-Tooth disease, type 1E;Charcot-Marie-Tooth disease, type 1A	AD, AD, AR, ?AD
PNPT1	610316	Deafness, autosomal recessive 70;Combined oxidative phosphorylation deficiency 13	AR
POLR1C	610060	Leukodystrophy, hypomyelinating, 11;Treacher Collins syndrome 3	AR
POLR1D	613715	Treacher Collins syndrome 2	AD, AR
POU3F4	300039	Deafness, X-linked 2	XLR
POU4F3	602460	Deafness, AD 15	AD
PRPS1	311850	Charcot-Marie-Tooth disease, XLR, 5;Deafness, X-linked 1;Phosphoribosylpyrophosphate synthetase superactivity;Arts syndrome;Gout, PRPS-related	XLR, XL
RDX	179410	Deafness, autosomal recessive 24	AR
RMND1	614917	Combined oxidative phosphorylation deficiency 11	AR
ROR1	602336	?Deafness, autosomal recessive 108	AR
RPS6KA3	300075	Coffin-Lowry syndrome;Mental retardation, X-linked 19	XLD
S1PR2	605111	Deafness, autosomal recessive 68	AR
SALL1	602218	Townes-Brocks branchiootorenal-like syndrome;Townes-Brocks syndrome 1	AD
SALL4	607343	IVIC syndrome;Duane-radial ray syndrome	AD
SEMA3E	608166	?CHARGE syndrome	AD
SERPINB6	173321	?Deafness, autosomal recessive 91	AR
SIX1	601205	Deafness, AD 23;Branchiootic syndrome 3	AD
SIX5	600963	Branchiootorenal syndrome 2
SLC12A1	600839	Bartter syndrome, type 1	AR
SLC17A8	607557	Deafness, AD 25	AD
SLC19A2	603941	Thiamine-responsive megaloblastic anemia syndrome	AR
SLC26A4	605646	Pendred syndrome;Deafness, autosomal recessive 4, with enlarged vestibular aqueduct	AR
SLC26A5	604943	?Deafness, autosomal recessive 61	AR
SLC29A3	612373	Histiocytosis-lymphadenopathy plus syndrome	AR
SLC33A1	603690	Congenital cataracts, hearing loss, and neurodegeneration;Spastic paraplegia 42, AD	AR, AD
SLC44A4	606107	?Deafness, AD 72	AD
SLC52A2	607882	Brown-Vialetto-Van Laere syndrome 2	AR
SLC52A3	613350	?Fazio-Londe disease;Brown-Vialetto-Van Laere syndrome 1	AR
SLITRK6	609681	Deafness and myopia	AR
SMAD4	600993	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Pancreatic cancer, somatic;Myhre syndrome;Polyposis, juvenile intestinal	AD
SMPX	300226	Deafness, X-linked 4	XLD
SNAI2	602150	Waardenburg syndrome, type 2D;Piebaldism	AR, AD
SOX10	602229	Waardenburg syndrome, type 4C;PCWH syndrome;Waardenburg syndrome, type 2E, with or without neurologic involvement	AD
SOX2	184429	Microphthalmia, syndromic 3;Optic nerve hypoplasia and abnormalities of the central nervous system	AD
SPATA5	613940	Epilepsy, hearing loss, and mental retardation syndrome	AR
STRC	606440	Deafness, autosomal recessive 16	AR
SUCLA2	603921	MT DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	AR
SUCLG1	611224	MT DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)	AR
SYNE4	615535	Deafness, autosomal recessive 76	AR
TBC1D24	613577	Deafness, AD 65;Deafness , autosomal recessive 86;Myoclonic epilepsy, infantile, familial;Developmental and epileptic encephalopathy 16;DOORS syndrome;Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp	AD, AR
TBX1	602054	Velocardiofacial syndrome;Tetralogy of Fallot;DiGeorge syndrome;Conotruncal anomaly face syndrome	AD
TCOF1	606847	Treacher Collins syndrome 1	AD
TECTA	602574	Deafness, AD 8/12;Deafness, autosomal recessive 21	AD, AR
TFAP2A	107580	Branchiooculofacial syndrome	AD
TIMM8A	300356	Mohr-Tranebjaerg syndrome	XLR
TJP2	607709	Hypercholanemia, familial;Cholestasis, progressive familial intrahepatic 4	AR
TMC1	606706	Deafness, AD 36;Deafness, autosomal recessive 7	AD, AR
TMIE	607237	Deafness, autosomal recessive 6	AR
TMPRSS3	605511	Deafness, autosomal recessive 8/10	AR
TNC	187380	Deafness, AD 56	AD
TPRN	613354	Deafness, autosomal recessive 79	AR
TRIOBP	609761	Deafness, autosomal recessive 28	AR
TRMU	610230	Liver failure, transient infantile;Deafness, MT, modifier of	AR, MT
TSPEAR	612920	?Deafness, autosomal recessive 98;Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	AR
TWNK	606075	Progressive external ophthalmoplegia with MT DNA deletions, AD 3;Perrault syndrome 5;MT DNA depletion syndrome 7 (hepatocerebral type)	AD, AR
TYR	606933	[Skin/hair/eye pigmentation 3, light/dark/freckling skin];Waardenburg syndrome/albinism, digenic;[Skin/hair/eye pigmentation 3, blue/green eyes];Melanoma, cutaneous malignant, susceptibility to, 8;Albinism, oculocutaneous, type IA;Albinism, oculocutaneous, type IB	AD, AR
USH1C	605242	Usher syndrome, type 1C;Deafness, autosomal recessive 18A	AR
USH1G	607696	Usher syndrome, type 1G	AR
USH2A	608400	Usher syndrome, type 2A;Retinitis pigmentosa 39	AR
VCAN	118661	Wagner syndrome 1	AD
WBP2	606962	Deafness, autosomal recessive 107	AR
WFS1	606201	?Cataract 41;Wolfram-like syndrome, AD;Wolfram syndrome 1;Diabetes mellitus, noninsulin-dependent, association with;Deafness, AD 6/14/38	AD, AR
WHRN	607928	Deafness, autosomal recessive 31;Usher syndrome, type 2D	AR

COMMON SYNDROMES AND DISORDERS COVERED

Alport syndrome
Non-syndromic hearing loss
Pendred syndrome
Pfeiffer syndrome
Stickler syndrome
Syndromic hearing loss
Usher syndrome
Waardenburg syndrome
Wolfram syndrome

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Ear, Nose, and Throat

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.