Hearing Loss Advanced Sequencing and CNV Evaluation
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000560763.2
- Last updated: 2020-12-04
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Offered by Athena Diagnostics Inc
- Overview
- How To Order
- Indication
- Methodology
- Performance
Characteristics - Interpretation
- Laboratory
Contact
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Hearing Loss Advanced Sequencing and CNV Evaluation
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Pre-symptomatic, Predictive
249 conditions tested. Click Indication tab for more information.
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)
- ABCD syndrome (ABCDS)
- Abortive cerebellar ataxia (BEHRS)
- Achondroplasia (ACH)
- Acrocephalosyndactyly type I (ACS1)
- Albinism, ocular, with sensorineural deafness
- Alport syndrome 1, X-linked recessive (ATS1)
- Alport syndrome 3, autosomal dominant (ATS3) (COL4A3)
- Alport syndrome, autosomal recessive (ATS2) (COL4A3)
- Alstrom syndrome (ALMS)
- Aminoglycoside-induced deafness
- Arts syndrome (ARTS)
- Atrophia bulborum hereditaria (ND)
- Auditory neuropathy, autosomal dominant, 1 (AUNA1)
- Autosomal dominant nonsyndromic deafness 17 (DFNA17), lab preferred: Deafness, autosomal dominant nonsyndromic sensorineural 17
- Autosomal dominant nonsyndromic deafness 22 (DFNA22), lab preferred: Deafness, autosomal dominant 22
- Autosomal dominant nonsyndromic deafness 2A (DFNA2A), lab preferred: DFNA 2 Nonsyndromic Hearing Loss
- Autosomal dominant nonsyndromic deafness 6 (DFNA6), lab preferred: WFS1-Related Disorders
- Autosomal dominant optic atrophy classic form (OPA1), lab preferred: Dominant hereditary optic atrophy
- Autosomal recessive nonsyndromic deafness, lab preferred: Deafness, autosomal recessive
- Baraitser-Winter Syndrome 2 (BRWS2)
- Baraitser-Winter syndrome 1 (BRWS1)
- Bartter disease type 4a (BARTS4A), lab preferred: Bartter syndrome type 4
- Bartter syndrome, type 1, antenatal (BARTS1)
- Beta-D-mannosidosis (MANSB)
- Bifunctional peroxisomal enzyme deficiency (DBIF)
- Branchiooculofacial syndrome (BOFS)
- Branchiootic syndrome 1 (BOS1), lab preferred: Branchiootic syndrome
- Branchiootic syndrome 3 (BOS3)
- Branchiootorenal Syndrome 1 (BOR1), lab preferred: Melnick-Fraser syndrome
- Branchiootorenal syndrome 2 (BOR2)
- CHARGE association (CHARGE)
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome, lab preferred: Camptodactyly, tall stature, and hearing loss syndrome
- Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN)
- Cerebrooculofacioskeletal syndrome 2 (COFS2)
- Charcot-Marie-Tooth disease and deafness (CMT1E)
- Charcot-Marie-Tooth disease, X-linked recessive, type 5 (CMTX5)
- Chronic infantile neurological, cutaneous and articular syndrome (CINCA)
- Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD)
- Corneal dystrophy-perceptive deafness syndrome (CDPD), lab preferred: Corneal dystrophy and perceptive deafness
- Cowchock syndrome
- Craniofacial-deafness-hand syndrome (CDHS), lab preferred: Craniofacial deafness hand syndrome
- Craniometaphyseal dysplasia, autosomal dominant (CMDD)
- Crouzon syndrome
- DOORS syndrome (DOORS), lab preferred: Digitorenocerebral syndrome
- Deafness and myopia (DFNMYP)
- Deafness dystonia syndrome (MTS), lab preferred: Mohr-Tranebjaerg syndrome
- Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
- Deafness, X-linked 1 (DFNX1)
- Deafness, X-linked 2 (DFNX2)
- Deafness, X-linked 4 (DFNX4)
- Deafness, X-linked 5 (DFNX5)
- Deafness, X-linked 6 (DFNX6)
- Deafness, autosomal dominant 1 (DFNA1)
- Deafness, autosomal dominant 10 (DFNA10)
- Deafness, autosomal dominant 11 (DFNA11)
- Deafness, autosomal dominant 12 (DFNA12)
- Deafness, autosomal dominant 13 (DFNA13)
- Deafness, autosomal dominant 15 (DFNA15)
- Deafness, autosomal dominant 20 (DFNA20)
- Deafness, autosomal dominant 23 (DFNA23)
- Deafness, autosomal dominant 25 (DFNA25)
- Deafness, autosomal dominant 28 (DFNA28)
- Deafness, autosomal dominant 2b (DFNA2B)
- Deafness, autosomal dominant 34, with or without inflammation, lab preferred: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION
- Deafness, autosomal dominant 36 (DFNA36)
- Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
- Deafness, autosomal dominant 3a (DFNA3A)
- Deafness, autosomal dominant 3b (DFNA3B)
- Deafness, autosomal dominant 4 (DFNA4A)
- Deafness, autosomal dominant 40 (DFNA40)
- Deafness, autosomal dominant 41 (DFNA41)
- Deafness, autosomal dominant 44 (DFNA44)
- Deafness, autosomal dominant 4b (DFNA4B)
- Deafness, autosomal dominant 5 (DFNA5)
- Deafness, autosomal dominant 50 (DFNA50)
- Deafness, autosomal dominant 56 (DFNA56)
- Deafness, autosomal dominant 64 (DFNA64)
- Deafness, autosomal dominant 65 (DFNA65)
- Deafness, autosomal dominant 66 (DFNA66)
- Deafness, autosomal dominant 67 (DFNA67)
- Deafness, autosomal dominant 68 (DFNA68)
- Deafness, autosomal dominant 70 (DFNA70)
- Deafness, autosomal dominant 73, lab preferred: DEAFNESS, AUTOSOMAL DOMINANT 73
- Deafness, autosomal dominant 9 (DFNA9)
- Deafness, autosomal dominant, with peripheral neuropathy
- Deafness, autosomal recessive 101 (DFNB101)
- Deafness, autosomal recessive 102 (DFNB102)
- Deafness, autosomal recessive 103 (DFNB103)
- Deafness, autosomal recessive 104 (DFNB104)
- Deafness, autosomal recessive 106, lab preferred: DEAFNESS, AUTOSOMAL RECESSIVE 106
- Deafness, autosomal recessive 108, lab preferred: DEAFNESS, AUTOSOMAL RECESSIVE 108
- Deafness, autosomal recessive 12 (DFNB12)
- Deafness, autosomal recessive 15 (DFNB15)
- Deafness, autosomal recessive 16 (DFNB16)
- Deafness, autosomal recessive 18 (DFNB18A)
- Deafness, autosomal recessive 18b (DFNB18B)
- Deafness, autosomal recessive 1A (DFNB1A)
- Deafness, autosomal recessive 1b (DFNB1B)
- Deafness, autosomal recessive 2 (DFNB2)
- Deafness, autosomal recessive 21 (DFNB21)
- Deafness, autosomal recessive 22 (DFNB22)
- Deafness, autosomal recessive 23 (DFNB23)
- Deafness, autosomal recessive 24 (DFNB24)
- Deafness, autosomal recessive 25 (DFNB25)
- Deafness, autosomal recessive 28 (DFNB28)
- Deafness, autosomal recessive 29 (DFNB29)
- Deafness, autosomal recessive 3 (DFNB3)
- Deafness, autosomal recessive 30 (DFNB30)
- Deafness, autosomal recessive 31 (DFNB31)
- Deafness, autosomal recessive 32 (DFNB32)
- Deafness, autosomal recessive 35 (DFNB35)
- Deafness, autosomal recessive 36, with or without vestibular involvement (DFNB36)
- Deafness, autosomal recessive 37 (DFNB37)
- Deafness, autosomal recessive 39 (DFNB39)
- Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (DFNB4), lab preferred: Enlarged vestibular aqueduct
- Deafness, autosomal recessive 42 (DFNB42)
- Deafness, autosomal recessive 44 (DFNB44)
- Deafness, autosomal recessive 48 (DFNB48)
- Deafness, autosomal recessive 49 (DFNB49)
- Deafness, autosomal recessive 53 (DFNB53)
- Deafness, autosomal recessive 59 (DFNB59)
- Deafness, autosomal recessive 6 (DFNB6)
- Deafness, autosomal recessive 61 (DFNB61)
- Deafness, autosomal recessive 63 (DFNB63)
- Deafness, autosomal recessive 66 (DFNB66)
- Deafness, autosomal recessive 67 (DFNB67)
- Deafness, autosomal recessive 68 (DFNB68)
- Deafness, autosomal recessive 7 (DFNB7)
- Deafness, autosomal recessive 70 (DFNB70)
- Deafness, autosomal recessive 74 (DFNB74)
- Deafness, autosomal recessive 76 (DFNB76)
- Deafness, autosomal recessive 77 (DFNB77)
- Deafness, autosomal recessive 79 (DFNB79)
- Deafness, autosomal recessive 8 (DFNB8)
- Deafness, autosomal recessive 84 (DFNB84A)
- Deafness, autosomal recessive 84b (DFNB84B)
- Deafness, autosomal recessive 86 (DFNB86)
- Deafness, autosomal recessive 88 (DFNB88)
- Deafness, autosomal recessive 89 (DFNB89)
- Deafness, autosomal recessive 9 (DFNB9)
- Deafness, autosomal recessive 91 (DFNB91)
- Deafness, autosomal recessive 93 (DFNB93)
- Deafness, autosomal recessive 97 (DFNB97)
- Deafness, autosomal recessive 98 (DFNB98)
- Deafness, congenital, with onychodystrophy, autosomal dominant (DDOD)
- Deafness, nonsyndromic sensorineural, mitochondrial
- Developmental malformations-deafness-dystonia syndrome (DJO), lab preferred: Juvenile-onset dystonia
- DiGeorge Syndrome (DGS), lab preferred: DiGeorge sequence
- Dilated cardiomyopathy 1J (CMD1J)
- EAST syndrome (SESAMES), lab preferred: SeSAME syndrome
- Ectodermal dysplasia/short stature syndrome (ECTDS)
- Epiphyseal dysplasia, multiple, with myopia and conductive deafness (EDMMD)
- Familial amyloid nephropathy with urticaria AND deafness (MWS)
- Hearing impairment
- Heimler syndrome 1 (HMLR1), lab preferred: Deafness enamel hypoplasia nail defects
- Heimler syndrome 2 (HMLR2)
- Hereditary congenital facial paresis 3 (HCFP3)
- Hereditary hearing loss and deafness
- Hereditary liability to pressure palsies (HNPP)
- Hereditary sensory neuropathy type IE (HSN1E)
- Hirschsprung disease 2 (HSCR2)
- Hypogonadotropic hypogonadism 2 with or without anosmia (HH2), lab preferred: Kallmann syndrome 2 (KAL2)
- Hypogonadotropic hypogonadism 5 with or without anosmia, lab preferred: Kallmann syndrome 5
- Hypoparathyroidism-deafness-renal disease syndrome (HDR), lab preferred: Barakat syndrome
- Hystrix-like ichthyosis with deafness
- Jervell and Lange-Nielsen syndrome 1 (JLNS1)
- Jervell and Lange-Nielsen syndrome 2 (JLNS2)
- Juvenile myopathy, encephalopathy, lactic acidosis AND stroke (MELAS)
- Keratitis-ichthyosis-deafness syndrome, autosomal dominant (KIDAD) (GJB2)
- Kniest dysplasia
- Knuckle pads, deafness AND leukonychia syndrome (BAPS) (GJB2)
- Leigh syndrome (LS)
- Levy-Hollister syndrome (LADD)
- MERRF syndrome (MERRF), lab preferred: Myoclonus with epilepsy with ragged red fibers
- Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)
- Mandibulofacial dysostosis with alopecia (MFDA)
- Marshall syndrome (MRSHS)
- Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (TRMA)
- Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) (MTDPS14)
- Mitochondrial complex III deficiency, nuclear type 1 (MC3DN1), lab preferred: Mitochondrial complex III deficiency
- Muenke syndrome (MNKES)
- Multiple epiphyseal dysplasia (disease), lab preferred: Multiple epiphyseal dysplasia
- Mutilating keratoderma (VOWNKL)
- Nephropathy with pretibial epidermolysis bullosa and deafness
- Nonsyndromic hearing loss
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy, lab preferred: Autosomal dominant optic atrophy plus syndrome
- Otofaciocervical syndrome 1 (OTFCS)
- Otospondylomegaepiphyseal dysplasia, autosomal dominant (OSMEDA), lab preferred: Stickler syndrome, type 3
- Otospondylomegaepiphyseal dysplasia, autosomal recessive (OSMEDB), lab preferred: Otospondylomegaepiphyseal dysplasia
- Palmoplantar keratoderma-deafness syndrome, lab preferred: Keratoderma palmoplantar deafness
- Partial albinism (PBT)
- Pendred syndrome (PDS), lab preferred: Pendred's syndrome
- Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease (PCWH)
- Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH)
- Peroxisome biogenesis disorder 1A (Zellweger) (PBD1A), lab preferred: Zellweger syndrome (ZS)
- Peroxisome biogenesis disorder 1B (PBD1B)
- Peroxisome biogenesis disorder 4B (PBD4B)
- Perrault syndrome 1 (PRLTS1)
- Perrault syndrome 2 (PRLTS2)
- Perrault syndrome 3 (PRLTS3)
- Perrault syndrome 4 (PRLTS4)
- Pfeiffer syndrome (ACS5)
- Phosphoribosylpyrophosphate synthetase superactivity
- Pili torti-deafness syndrome (BJS)
- RAPH BLOOD GROUP SYSTEM
- Renal tubular acidosis with progressive nerve deafness (DRTA2)
- Saethre-Chotzen syndrome (SCS)
- Sensorineural hearing loss
- Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN)
- Shprintzen syndrome (VCFS)
- Sinoatrial node dysfunction and deafness (SANDD)
- Split-hand/foot malformation 1 with sensorineural hearing loss (SHFM1D)
- Spondyloperipheral dysplasia-short ulna syndrome, lab preferred: Spondyloperipheral dysplasia
- Stickler syndrome type 1 (STL1)
- Stickler syndrome type 2 (STL2), lab preferred: Stickler syndrome, type 2
- Stickler syndrome, type 4 (STL4)
- Stickler syndrome, type 5 (STL5)
- Temtamy preaxial brachydactyly syndrome (TPBS)
- Tietz syndrome (TADS)
- Townes-Brocks syndrome 1 (TBS1)
- Treacher Collins syndrome 1 (TCS1)
- Treacher Collins syndrome 2 (TCS2)
- Treacher Collins syndrome 3 (TCS3), lab preferred: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
- Usher Syndrome, Type III (USH3), lab preferred: Usher syndrome, type 3A (USH3A)
- Usher syndrome type 1 (USH1), lab preferred: Usher syndrome, type 1
- Usher syndrome type 1D (USH1D), lab preferred: Usher syndrome, type 1D
- Usher syndrome type 1F (USH1F), lab preferred: Usher syndrome, type 1F
- Usher syndrome, type 1C (USH1C)
- Usher syndrome, type 1G (USH1G)
- Usher syndrome, type 1J (USH1J)
- Usher syndrome, type 2A (USH2A)
- Usher syndrome, type 2C (USH2C)
- Usher syndrome, type 2D (USH2D)
- Waardenburg syndrome type 1 (WS1)
- Waardenburg syndrome type 2A (WS2A)
- Waardenburg syndrome type 2D (WS2D)
- Waardenburg syndrome type 2E (WS2E)
- Waardenburg syndrome type 3 (WS3), lab preferred: Klein-Waardenberg's syndrome
- Waardenburg syndrome type 4A (WS4A)
- Waardenburg syndrome type 4B (WS4B)
- Waardenburg syndrome type 4C (WS4C)
- Wolfram syndrome 1 (WFS1), lab preferred: Diabetes mellitus AND insipidus with optic atrophy AND deafness
- Wolfram syndrome 2 (WFS2)
- Wolfram-like syndrome, autosomal dominant (WFSL)
- Xeroderma pigmentosum, complementation group b (XPB)
- Xeroderma pigmentosum, group D (XPD)
- Zimmermann-Laband syndrome 2 (ZLS2)
- nonsyndromic sensorineural hearing loss
Not provided
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- DDeletion/duplication analysis
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
Summary of what is tested
171 genes and variants, 13 chromosomal regions. Click Methodology tab for more information.
Genes
- Gene: ABHD12 (20p11.21)
- Gene: ACTB (7p22.1)
- Gene: ACTG1 (17q25.3)
- Gene: ADCY1 (7p12.3)
- Gene: ADGRV1 (5q14.3)
- Gene: AIFM1 (Xq26.1)
- Gene: ALMS1 (2p13.1)
- Gene: ANKH (5p15.2)
- Gene: ATP2B2 (3p25.3)
- Gene: ATP6V1B1 (2p13.3)
- Gene: ATP6V1B2 (8p21.3)
- Gene: BCS1L (2q35)
- Gene: BDP1 (5q13.2)
- Gene: BSND (1p32.3)
- Gene: CABP2 (11q13.2)
- Gene: CACNA1D (3p21.1)
- Gene: CCDC50 (3q28)
- Gene: CD151 (11p15.5)
- Gene: CD164 (6q21)
- Gene: CDC14A (1p21.2)
- Gene: CDH23 (10q22.1)
- Gene: CEACAM16 (19q13.31-13.32)
- Gene: CEMIP (15q25.1)
- Gene: CHD7 (8q12.2)
- Gene: CHSY1 (15q26.3)
- Gene: CIB2 (15q25.1)
- Gene: CISD2 (4q24)
- Gene: CLDN14 (21q22.13)
- Gene: CLIC5 (6p21.1)
- Gene: CLPP (19p13.3)
- Gene: CLRN1 (3q25.1)
- Gene: COCH (14q12)
- Gene: COL11A1 (1p21.1)
- Gene: COL11A2 (6p21.32)
- Gene: COL2A1 (12q13.11)
- Gene: COL4A3 (2q36.3)
- Gene: COL4A4 (2q36.3)
- Gene: COL4A5 (Xq22.3)
- Gene: COL4A6 (Xq22.3)
- Gene: COL9A1 (6q13)
- Gene: COL9A2 (1p34.2)
- Gene: COL9A3 (20q13.33)
- Gene: CRYM (16p12.2)
- Gene: DCDC2 (6p22.3)
- Gene: DIABLO (12q24.31)
- Gene: DIAPH1 (5q31.3)
- Gene: DIAPH3 (13q21.2)
- Gene: DLX5 (7q21.3)
- Gene: DNMT1 (19p13.2)
- Gene: DSPP (4q22.1)
- Gene: EDN3 (20q13.32)
- Gene: EDNRA (4q31.22-31.23)
- Gene: EDNRB (13q22.3)
- Gene: ELMOD3 (2p11.2)
- Gene: EPS8 (12p12.3)
- Gene: EPS8L2 (11p15.5)
- Gene: ERCC2 (19q13.32)
- Gene: ERCC3 (2q14.3)
- Gene: ESPN (1p36.31)
- Gene: ESRRB (14q24.3)
- Gene: EYA1 (8q13.3)
- Gene: EYA4 (6q23.2)
- Gene: FGF3 (11q13.3)
- Gene: FGFR1 (8p11.23)
- Gene: FGFR2 (10q26.13)
- Gene: FGFR3 (4p16.3)
- Gene: FOXI1 (5q35.1)
- Gene: GATA3 (10p14)
- Gene: GIPC3 (19p13.3)
- Gene: GJB2 (13q12.11)
- Gene: GJB3 (1p34.3)
- Gene: GJB6 (13q12.11)
- Gene: GRHL2 (8q22.3)
- Gene: GRXCR1 (4p13)
- Gene: GRXCR2 (5q32)
- Gene: GSDME (7p15.3)
- Gene: HARS2 (5q31.3)
- Gene: HGF (7q21.11)
- Gene: HOMER2 (15q25.2)
- Gene: HOXB1 (17q21.32)
- Gene: HSD17B4 (5q23.1)
- Gene: ILDR1 (3q13.33)
- Gene: KARS1 (16q23.1)
- Gene: KCNE1 (21q22.12)
- Gene: KCNJ10 (1q23.2)
- Gene: KCNQ1 (11p15.5-15.4)
- Gene: KCNQ4 (1p34.2)
- Gene: LARS2 (3p21.31)
- Gene: LHFPL5 (6p21.31)
- Gene: LOXHD1 (18q21.1)
- Gene: LRTOMT (11q13.4)
- Gene: MANBA (4q24)
- Gene: MARVELD2 (5q13.2)
- Gene: MCM2 (3q21.3)
- Gene: MET (7q31.2)
- Gene: MIR96 (7q32.2)
- Gene: MT-TS1
- Gene: MT-TS2
- Gene: MYH14 (19q13.33)
- Gene: MYH9 (22q12.3)
- Gene: MYO15A (17p11.2)
- Gene: MYO3A (10p12.1)
- Gene: MYO6 (6q14.1)
- Gene: MYO7A (11q13.5)
- Gene: NARS2 (11q14.1)
- Gene: NDP (Xp11.3)
- Gene: NLRP3 (1q44)
- Gene: NR2F1 (5q15)
- Gene: OPA1 (3q29)
- Gene: OSBPL2 (20q13.33)
- Gene: OTOA (16p12.2)
- Gene: OTOF (2p23.3)
- Gene: OTOG (11p15.1)
- Gene: OTOGL (12q21.31)
- Gene: P2RX2 (12q24.33)
- Gene: PAX3 (2q36.1)
- Gene: PCDH15 (10q21.1)
- Gene: PDZD7 (10q24.31)
- Gene: PEX1 (7q21.2)
- Gene: PEX6 (6p21.1)
- Gene: PJVK (2q31.2)
- Gene: PMP22 (17p12)
- Gene: PNPT1 (2p16.1)
- Gene: POLR1C (6p21.1)
- Gene: POLR1D (13q12.2)
- Gene: POU3F4 (Xq21.1)
- Gene: POU4F3 (5q32)
- Gene: PRPS1 (Xq22.3)
- Gene: PTPRQ (12q21.31)
- Gene: RDX (11q22.3)
- Gene: RIPOR2 (6p22.3)
- Gene: ROR1 (1p31.3)
- Gene: S1PR2 (19p13.2)
- Gene: SALL1 (16q12.1)
- Gene: SEMA3E (7q21.11)
- Gene: SERPINB6 (6p25.2)
- Gene: SIX1 (14q23.1)
- Gene: SIX5 (19q13.32)
- Gene: SLC12A1 (15q21.1)
- Gene: SLC17A8 (12q23.1)
- Gene: SLC19A2 (1q24.2)
- Gene: SLC22A4 (5q31.1)
- Gene: SLC26A4 (7q22.3)
- Gene: SLC26A5 (7q22.1)
- Gene: SLC4A11 (20p13)
- Gene: SLITRK6 (13q31.1)
- Gene: SMPX (Xp22.12)
- Gene: SNAI2 (8q11.21)
- Gene: SOX10 (22q13.1)
- Gene: STRC (15q15.3)
- Gene: SYNE4 (19q13.12)
- Gene: TBC1D24 (16p13.3)
- Gene: TBX1 (22q11.21)
- Gene: TCOF1 (5q32-33.1)
- Gene: TECTA (11q23.3)
- Gene: TFAP2A (6p24.3)
- Gene: TIMM8A (Xq22.1)
- Gene: TJP2 (9q21.11)
- Gene: TMC1 (9q21.13)
- Gene: TMEM132E (17q12)
- Gene: TMIE (3p21.31)
- Gene: TMPRSS3 (21q22.3)
- Gene: TNC (9q33.1)
- Gene: TPRN (9q34.3)
- Gene: TRIOBP (22q13.1)
- Gene: TSPEAR (21q22.3)
- Gene: USH1C (11p15.1)
- Gene: USH1G (17q25.1)
- Gene: USH2A (1q41)
- Gene: WFS1 (4p16.1)
- Gene: WHRN (9q32)
Chromosomal regions/Mitochondria
- DFNB1 Locus
- MITF
- MSRB3
- MT-CO1
- MT-CO2
- MT-ND1
- MT-RNR1 (rRNA)
- MT-TH (tRNA)
- MT-TI (tRNA)
- MT-TI / MT-TQ (tRNA)
- MT-TK (tRNA)
- MT-TL1 (tRNA)
- MT-TQ (tRNA)
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.