Overview
Test order codeHelpLaboratory's order or catalog code for the test (used in the order requisition form).: 3029
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
- 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 optic atrophy plus syndrome
- Baraitser-Winter Syndrome 2 (BRWS2)
- Baraitser-Winter syndrome 1 (BRWS1)
- Barakat syndrome (HDR)
- Bartter syndrome type 4 (BARTS4A)
- Bartter syndrome, type 1, antenatal (BARTS1)
- Beta-D-mannosidosis (MANSB)
- Bifunctional peroxisomal enzyme deficiency (DBIF)
- Branchiooculofacial syndrome (BOFS)
- Branchiootic syndrome (BOS1)
- Branchiootic syndrome 3 (BOS3)
- Branchiootorenal syndrome 2 (BOR2)
- CHARGE association (CHARGE)
- Camptodactyly, tall stature, and hearing loss syndrome (CATSHLS)
- 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 and perceptive deafness (CDPD)
- Cowchock syndrome (COWCK)
- Craniofacial deafness hand syndrome (CDHS)
- Craniometaphyseal dysplasia, autosomal dominant (CMDD)
- Crouzon syndrome
- DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION (DFNA34)
- DEAFNESS, AUTOSOMAL DOMINANT 73 (DFNA73)
- DEAFNESS, AUTOSOMAL RECESSIVE 106 (DFNB106)
- DEAFNESS, AUTOSOMAL RECESSIVE 108 (DFNB108)
- DFNA 2 Nonsyndromic Hearing Loss (DFNA2A)
- DOORS syndrome (DOORS), lab preferred: Digitorenocerebral syndrome
- Deafness and myopia (DFNMYP)
- Deafness enamel hypoplasia nail defects (HMLR1)
- 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 22 (DFNA22)
- Deafness, autosomal dominant 23 (DFNA23)
- Deafness, autosomal dominant 25 (DFNA25)
- Deafness, autosomal dominant 28 (DFNA28)
- Deafness, autosomal dominant 2b (DFNA2B)
- 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 9 (DFNA9)
- Deafness, autosomal dominant nonsyndromic sensorineural 17 (DFNA17)
- Deafness, autosomal dominant, with peripheral neuropathy
- Deafness, autosomal recessive
- Deafness, autosomal recessive 101 (DFNB101)
- Deafness, autosomal recessive 102 (DFNB102)
- Deafness, autosomal recessive 103 (DFNB103)
- Deafness, autosomal recessive 104 (DFNB104)
- 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 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
- DiGeorge sequence (DGS)
- Diabetes mellitus AND insipidus with optic atrophy AND deafness (WFS1)
- Dilated cardiomyopathy 1J (CMD1J)
- Dominant hereditary optic atrophy (OPA1)
- Ectodermal dysplasia/short stature syndrome (ECTDS)
- Enlarged vestibular aqueduct (DFNB4)
- Epiphyseal dysplasia, multiple, with myopia and conductive deafness (EDMMD)
- Familial amyloid nephropathy with urticaria AND deafness (MWS)
- Hearing impairment
- 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)
- 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)
- Juvenile-onset dystonia (DJO)
- Kallmann syndrome 2 (KAL2)
- Kallmann syndrome 5 (KAL5)
- Keratitis-ichthyosis-deafness syndrome, autosomal dominant
- Keratoderma palmoplantar deafness
- Klein-Waardenberg's syndrome (WS3)
- Kniest dysplasia
- Knuckle pads, deafness AND leukonychia syndrome
- Leigh syndrome (LS)
- Levy-Hollister syndrome (LADD)
- Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)
- Mandibulofacial dysostosis with alopecia (MFDA)
- Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive (TCS3)
- Marshall syndrome (MRSHS)
- Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (TRMA)
- Melnick-Fraser syndrome (BOR1)
- Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) (MTDPS14)
- Mitochondrial complex III deficiency (MC3DN1)
- Mohr-Tranebjaerg syndrome (MTS)
- Muenke syndrome (MNKES)
- Multiple epiphyseal dysplasia
- Mutilating keratoderma (VOWNKL)
- Myoclonus with epilepsy with ragged red fibers (MERRF)
- Nephropathy with pretibial epidermolysis bullosa and deafness
- Nonsyndromic hearing loss
- Otofaciocervical syndrome 1 (OTFCS)
- Otospondylomegaepiphyseal dysplasia (OSMEDB)
- 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) (ZS), lab preferred: Zellweger syndrome
- 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
- Saethre-Chotzen syndrome (SCS)
- SeSAME syndrome (SESAMES)
- 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
- Stickler syndrome type 1 (STL1)
- Stickler syndrome, type 2 (STL2)
- Stickler syndrome, type 3 (OSMEDA)
- 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)
- Usher syndrome, type 1 (USH1)
- Usher syndrome, type 1C (USH1C)
- Usher syndrome, type 1D (USH1D)
- Usher syndrome, type 1F (USH1F)
- 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)
- Usher syndrome, type 3A (USH3A)
- WFS1-Related Disorders (DFNA6)
- Waardenburg syndrome type 1 (WS1)
- Waardenburg syndrome type 2A (WS2A)
- Waardenburg syndrome type 2D (WS2D)
- Waardenburg syndrome type 2E (WS2E)
- Waardenburg syndrome type 4A (WS4A)
- Waardenburg syndrome type 4B (WS4B)
- Waardenburg syndrome type 4C (WS4C)
- 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
- 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
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
Not provided
Not provided
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