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

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)