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Ear, Nose, & Throat

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. With the ear being essential for many of our most basic functions, it is crucial to initially distinguish between genetic disorders and those due to environmental influences. Having identified genetic variants associated with ear-related diseases in over 190 different genes, our testing options can help pinpoint the exact cause of inherited deafness and related syndromes in your patients.


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 syndromes, such as Alport, Pendred, Waardenburg, Usher, and branchio-oto-renal among others.

No. of genes:196
TAT:25 days
Coverage:≥99.5% ≥20x
Details:CNV analysis included

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 Deafness, Autosomal Dominant 20; Baraitser-Winter syndrome 2 AD
ADCY1 103072 autosomal recessive deafness, 44 AR
ADGRV1 602851 Febrile seizures, familial, 4; Usher syndrome type 2C AD, AR, DiD
AIFM1 300169 Deafness, X-linked 5; Combined oxidative phosphorylation deficiency 6; Cowchock syndrome XLR
ANKH 605145 Chondrocalcinosis 2; Craniometaphyseal dysplasia AD
ATP2B2 108733 deafness type 12 AR
ATP6V1B1 192132 Renal tubular acidosis with deafness AR
ATP6V1B2 606939 Congenital deafness with onychodystrophy; Zimmermann-Laband syndrome type 2 AD
BCS1L 603647 Mitochondrial complex III deficiency, nuclear type 1; Leigh syndrome; Bjornstad syndrome; GRACILE syndrome AR, M
BDP1 607012 AR
BSND 606412 Bartter Syndrome type 4A AR
BTD 609019 biotinidase deficiency AR
CABP2 607314 deafness type 93 AR
CACNA1D 114206 Sinoatrial node dysfunction and deafness; Primary aldosteronism, seizures, and neurologic abnormalities AD, AR
CD151 602243
CD164 603356 AD
CDC14A 603504 Autosomal recessive deafness with or without immotile sperm type 32 AR
CDH23 605516 Usher syndrome type 1D; deafness type 12; susceptibility to pituitary adenomas AD, AR, DiR
CDKN1C 600856 Beckwith-Wiedemann syndrome; IMAGE syndrome AD
CEACAM16 614591 deafness type 4B AD, AR
CEP78 617110 AR
CHD7 608892 CHARGE syndrome; hypogonadotropic hypogonadism-5 with or without anosmia AD
CHSY1 608183 AR
CIB2 605564 deafness type 48; Usher syndrome type 1J AR
CISD2 611507 Wolfram syndrome 2 AR
CLDN14 605608 deafness type 29 AR
CLIC5 607293 AR
CLPP 601119 Perrault syndrome 3 AR
CLRN1 606397 Usher Syndrome type 3A; retinitis pigmentosa type 61 AR
COCH 603196 Deafness, autosomal dominant 9 AD, AR
COL11A1 120280 Marshall syndrome; Fibrochondrogenesis 1; Stickler syndrome 2 AD, AR
COL11A2 120290 Stickler syndrome, type III; Otospondylomegaepiphyseal dysplasia; Deafness, autosomal dominant 13; Deafness, autosomal recessive 53; Fibrochondrogenesis 2 AD, AR
COL2A1 120140 Epiphyseal dysplasia, multiple, with myopia and deafness; Legg-Calve-Perthes disease; Platyspondylic skeletal dysplasia, Torrance type; Kniest dysplasia; congenital spondyloepiphyseal dysplasia; SMED Strudwick type; Achondrogenesis, type II or hypochondrogenesis; Spondyloperipheral dysplasia; Osteoarthritis with mild chondrodysplasia; Avascular necrosis of the femoral head; Czech dysplasia; Stickler syndrome type 1; Stanescu type spondyloepiphyseal dysplasia AD
COL4A3 120070 Alport syndrome 3, AD; benign familial hematuria benign familial; Alport syndrome, AR AD, AR
COL4A4 120131 benign familial hematuria benign familial; Alport syndrome, AR AD, AR
COL4A5 303630 Alport syndrome XLD
COL4A6 303631 deafness type 6 XLR
COL9A1 120210 Stickler syndrome, type IV; Epiphyseal dysplasia, multiple, 6 AD
COL9A2 120260 Stickler syndrome, type V AD, AR
COL9A3 120270 multiple epiphyseal dysplasia type 3 AD
CRYM 123740 Deafness, autosomal dominant 40 AD
DCAF17 612515 Woodhouse-Sakati syndrome AR
DCDC2 605755 nephronophthisis 19; neonatal sclerosing cholangitis AR
DIABLO 605219 Deafness, autosomal dominant 64 AD
DIAPH1 602121 Deafness, autosomal dominant 1; Seizures, cortical blindness, microcephaly syndrome AD, AR
DIAPH3 614567 Auditory neuropathy, autosomal dominant, 1 AD
DLX5 600028 Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive AD, AR
DMXL2 612186 Polyendocrine-polyneuropathy syndrome; ?Deafness, autosomal dominant 71 AD, AR
DNMT1 126375 cerebellar ataxia, deafness and narcolepsy; Neuropathy, hereditary sensory, type IE AD
DSPP 125485 Dentin dysplasia type II; Dentinogenesis imperfecta, Shields type II; Dentinogenesis imperfecta, Shields type III AD
EDN3 131242 congenital central hypoventilation syndrome; Waardenburg syndrome type 4B; Hirschsprung disease 4 AD, AR
EDNRB 131244 Waardenburg syndrome type 4A; Hirschsprung disease, susceptibility to, 2; ABCD syndrome AD, AR
ELMOD3 615427 AR
EPS8 600206 AR
EPS8L2 614988 AR
ESPN 606351 deafness type 36 AR
ESRP1 612959 AR
ESRRB 602167 deafness type 35 AR
EYA1 601653 Branchiootorenal Syndrome 1; Otofaciocervical Syndrome 1; Branchiootic syndrome 1 AD
EYA4 603550 Deafness, autosomal dominant 10; dilated cardiomyopathy-1J AD
FDXR 103270 auditory neuropathy and optic atrophy AR
FGF3 164950 Deafness, congenital with inner ear agenesis, microtia, and microdontia AR
FGFR1 136350 Craniofacial-skeletal-dermatologic dysplasia; Jackson-Weiss syndrome; hypogonadotropic hypogonadism-2 with or without anosmia; Osteoglophonic dysplasia; Hartsfield syndrome AD
FGFR2 176943 Apert syndrome; Saethre-Chotzen Syndrome; Craniofacial-skeletal-dermatologic dysplasia; Jackson-Weiss syndrome; Crouzon syndrome; Beare-Stevenson cutis gyrata syndrome; Lacrimoauriculodentodigital Syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Scaphocephaly, maxillary retrusion, and mental retardation; Gastric Cancer; Bent bone dysplasia syndrome AD
FGFR3 134934 Achondroplasia; Bladder Cancer; colorectal cancer; Hypochondroplasia; Lacrimoauriculodentodigital Syndrome; Nevus, Epidermal; Thanatophoric dysplasia, type I; Thanatophoric dysplasia, type II; Spermatocytic seminoma, somatic; Muenke syndrome; Cervical cancer, somatic; CATSHL syndrome; Crouzon syndrome with acanthosis nigricans AD, AR
FOXI1 601093 autosomal recessive deafness type 4 with enlarged vestibular aqueduct AR
GAB1 604439 AR
GATA3 131320 Hypoparathyroidism, sensorineural deafness, and renal dysplasia AD
GIPC3 608792 deafness type 15 AR
GJA1 121014 Oculodentodigital dysplasia AD, AR
GJB2 121011 Vohwinkel syndrome; keratitis-ichthyosis-deafness syndrome; palmoplantar keratoderma with deafness; Bart-Pumphrey syndrome; nonsyndromic hearing loss; autosomal dominant deafness type 3A; Hystrix-like ichthyosis with deafness AD, AR, DiD
GJB3 603324 erythrokeratoderma variabilis progressive type 1; nonsyndromic hearing loss; Deafness, autosomal dominant 2B AD, AR, DiD
GJB6 604418 Clouston Syndrome; nonsyndromic hearing loss; autosomal dominant deafness type 3B; deafness type 1B AD, AR, DiD
GPRASP2 300969 XLR
GPSM2 609245 Chudley-McCullough syndrome AR
GRHL2 608576 Deafness, autosomal dominant 28; Ectodermal dysplasia/short stature syndrome AD, AR
GRXCR1 613283 Deafness, autosomal recessive 25 AR
GRXCR2 615762 AR
GSDME 608798 Deafness, autosomal dominant 5 AD
HARS1 142810 axonal Charcot-Marie-tooth disease type 2W AD, AR
HARS2 600783 AR
HGF 142409 deafness type 39 AR
HOMER2 604799 AD
HOXB1 142968 Facial paresis, hereditary congenital, 3 AR
HSD17B4 601860 Perrault syndrome type 1; D-bifunctional protein deficiency AR
ILDR1 609739 deafness type 42 AR
KARS1 601421 CHARCOT-MARIE-TOOTH, RECESSIVE INTERMEDIATE TYPE B; Deafness, autosomal recessive 89 AR
KCNE1 176261 Jervell and Lange-Nielsen syndrome 2; long QT syndrome 5 AD, AR
KCNJ10 602208 autosomal recessive deafness type 4 with enlarged vestibular aqueduct; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance AR
KCNQ1 607542 long QT syndrome-1; Jervell and Lange-Nielsen syndrome; Atrial fibrillation, familial, 3; Short QT syndrome-2 AD, AR
KCNQ4 603537 Deafness, autosomal dominant 2A AD
KIT 164920 Mast cell disease; Piebaldism; Spermatocytic seminoma, somatic; acute myeloid leukemia; gastrointestinal stromal tumor AD
KITLG 184745 AD
LARS2 604544 Perrault syndrome 4; Hydrops, lactic acidosis, and sideroblastic anemia AR
LHFPL5 609427 deafness type 67 AR
LOXHD1 613072 deafness type type 77 AR
LRP2 600073 Donnai-Barrow syndrome AR
LRTOMT 612414 deafness type 63 AR
MAN2B1 609458 alpha-mannosidosis AR
MANBA 609489 Mannosidosis, Beta A, Lysosomal AR
MARVELD2 610572 deafness type 49 AR
MCM2 116945 AD
MET 164860 Hepatocellular Carcinoma; Renal cell carcinoma, papillary; deafness type 97 AD, AR
MGP 154870 Keutel syndrome AR
MITF 156845 Albinism, Ocular, With Sensorineural Deafness; Tietz Syndrome; Waardenburg syndrome type 2A; Melanoma, Cutaneous Malignant, Susceptibility To, 8 AD, AR
MPZL2 604873 AR
MSRB3 613719 Deafness, autosomal recessive 74 AR
MYH14 608568 deafness type 4A; Peripheral neuropathy, myopathy, hoarseness, and hearing loss AD
MYH9 160775 Fechtner syndrome; Macrothrombocytopenia and progressive sensorineural deafness; May-Hegglin anomaly; Sebastian syndrome; deafness type 17 AD
MYO15A 602666 deafness type 3 AR
MYO3A 606808 deafness type 30 AR
MYO6 600970 deafness type 37 AD, AR
MYO7A 276903 Usher syndrome type 1B; deafness type 2; autosomal dominant deafness type 11 AD, AR
NARS2 612803 Combined oxidative phosphorylation deficiency 24 AR
NDP 300658 Exudative Vitreoretinopathy 2, X-Linked; Norrie disease XLD, XLR
NLRP3 606416 Familial Cold Autoinflammatory Syndrome 1; Muckle-Wells syndrome; CINCA syndrome AD
OPA1 605290 Optic atrophy plus syndrome; optic atrophy type 1; Behr syndrome; Glaucoma, normal tension, susceptibility to; Mitochondrial DNA depletion syndrome 14 AD, AR
OSBPL2 606731 AD
OTOA 607038 deafness type 22 AR
OTOF 603681 deafness type 9 AR
OTOG 604487 AR
OTOGL 614925 deafness type 84B AR
P2RX2 600844 autosomal dominant deafness type 41 AD
PAX3 606597 Waardenburg syndrome, type 3; Waardenburg syndrome type 1 AD, AR
PCDH15 605514 Usher syndrome type 1D; Usher syndrome type 1F; deafness type 23 AR, DiR
PDZD7 612971 Usher syndrome type 2A; Usher syndrome type 2C; Deafness, autosomal recessive 57 AR, DiD
PEX1 602136 Peroxisome biogenesis disorder type 1A (Zellweger); Heimler syndrome type 1; peroxisome biogenesis disorder type 1B AR
PEX26 608666 peroxisome biogenesis disorder type 7A (Zellweger); peroxisome biogenesis disorder 7B AR
PEX6 601498 peroxisome biogenesis disorder type 4A (Zellweger); peroxisome biogenesis disorder type 4B; Heimler syndrome type 2 AD, AR
PJVK 610219 Deafness, autosomal recessive 59 AR
PMP22 601097 type 1A Charcot-Marie-Tooth disease; Dejerine-Sottas syndrom; Neuropathy, recurrent, with pressure palsies ?AD, AD, AR
PNPT1 610316 Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70 AR
POLR1C 610060 Treacher collins syndrome 3; hypomyelinating leukodystrophy-11 AR
POLR1D 613715 Treacher collins syndrome 2 AD, AR
POU3F4 300039 Deafness, X-linked 2 XLR
POU4F3 602460 Deafness, autosomal dominant 15 AD
PRPS1 311850 Phosphoribosylpyrophosphate synthetase superactivity; Arts syndrome; deafness type 1; type X5 Charcot-Marie-Tooth XL, XLR
RDX 179410 Deafness, autosomal recessive 24 AR
RMND1 614917 Combined oxidative phosphorylation deficiency 11 AR
ROR1 602336 AR
RPS6KA3 300075 MENTAL RETARDATION, X-LINKED 19; Coffin-Lowry syndrome XLD
S1PR2 605111 Deafness, autosomal recessive type 68 AR
SALL1 602218 Townes-Brocks syndrome AD
SALL4 607343 Okihiro syndrome AD
SEMA3E 608166 CHARGE syndrome AD
SERPINB6 173321 Deafness, autosomal recessive 91 AR
SIX1 601205 Deafness, autosomal dominant 23; Brachiootic syndrome 3 AD
SIX5 600963 Branchiootorenal syndrome 2
SLC12A1 600839 Bartter syndrome type 1 AR
SLC17A8 607557 Deafness, autosomal dominant 25 AD
SLC19A2 603941 Thiamine-responsive megaloblastic anemia syndrome AR
SLC26A4 605646 Pendred syndrome; autosomal recessive deafness type 4 with enlarged vestibular aqueduct AR
SLC26A5 604943 Deafness, autosomal recessive 61 AR
SLC29A3 612373 Histiocytosis-lymphadenopathy plus syndrome AR
SLC33A1 603690 spastic paraplegia 42; Congenital cataracts, hearing loss, and neurodegeneration AD, AR
SLC44A4 606107 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 Myhre syndrome; Juvenile polyposis syndrome, infantile form; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Pancreatic Cancer AD
SMPX 300226 Deafness, X-linked 4 XLD
SNAI2 602150 Piebaldism; Waardenburg syndrome type 2d AD, AR
SOX10 602229 PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome, type 4C AD
SOX2 184429 Microphthalmia, Syndromic 3 AD
SPATA5 613940 Epilepsy, hearing loss, and mental retardation syndrome AR
STRC 606440 deafness type 16 AR
SUCLA2 603921 mitochondrial DNA depletion syndrome 5 AR
SUCLG1 611224 mitochondrial DNA depletion syndrome 9 AR
SYNE4 615535 deafness, autosomal recessive 76 AR
TBC1D24 613577 DOOR syndrome; Myoclonic epilepsy, infantile, familial; Rolandic epilepsy with proxysmal exercise-induced dystonia and writer's cramp; deafness type 86; Epileptic encephalopathy, early infantile, 16; deafness type 65 AD, AR
TBX1 602054 Tetralogy of Fallot; DiGeorge syndrome; Velocardiofacial syndrome; Conotruncal Heart Malformations AD
TCOF1 606847 Treacher Collins syndrome type 1 AD
TECTA 602574 Deafness, autosomal dominant 8/12; deafness type 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 type 7 AD, AR
TMIE 607237 Deafness, autosomal recessive 6 AR
TMPRSS3 605511 deafness type 8 AR
TNC 187380 Deafness, autosomal dominant 56 AD
TPRN 613354 deafness type 79 AR
TRIOBP 609761 deafness type 28 AR
TRMU 610230 Deafness, Aminoglycoside-Induced; Liver Failure, Infantile, Transient AR, M
TSPEAR 612920 Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis AR
TWNK 606075 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Progressive external ophthalmoplegia, autosomal dominant, 3 AD, AR
TYR 606933 Albinism, Ocular, With Sensorineural Deafness; oculocutaneous albinism type 1A; Skin/hair/eye pigmentation 3; Albinism, oculocutaneous, type IB AD, AR
USH1C 605242 Usher syndrome type IC; deafness type 18A AR
USH1G 607696 Usher syndrome type 1G AR
USH2A 608400 Usher syndrome type 2A; retinitis pigmentosa type 39 AR
VCAN 118661 Wagner syndrome 1 AD
WBP2 606962 AR
WFS1 606201 congenital nuclear cataract type 41; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Wolfram syndrome; Deafness, autosomal dominant 6/14/38; Wolfram-like syndrome AD, AR
WHRN 607928 deafness type 31; Usher syndrome type 2D AR


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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