List of diseases covered by Sensorineural Hearing loss NGS panel

Published 30/07/2018

List of diseases covered by
Sensorineural Hearing loss NGS panel

Gene Condition
ACTG1 Deafness, autosomal dominant 20/26; Baraitser-Winter syndrome 2
ADGRV1 Usher syndrome, type 2C, GPR98/PDZD7 digenic;
Febrile seizures, familial, 4
ATP2B2 Deafness, autosomal recessive 12, modifier of
ATP6V1B1 Renal tubular acidosis with deafness
BSND Sensorineural deafness with mild renal dysfunction
CCDC50 Deafness, autosomal dominant 44
CDH23 Usher syndrome, type 1D;
Deafness, autosomal recessive 12
CEACAM16 Deafness, autosomal dominant 4B
CIB2 Usher syndrome, type IJ;
Deafness, autosomal recessive 48
CLDN14 Deafness, autosomal recessive 29
CLRN1 Usher syndrome, type 3A;
Retinitis pigmentosa 61
COCH Deafness, autosomal dominant 9
COL11A2 Deafness, autosomal dominant 13;
Deafness, autosomal recessive 53; Fibrochondrogenesis 2;
Otospondylomegaepiphyseal dysplasia, autosomal dominant;
Otospondylomegaepiphyseal dysplasia, autosomal recessive
CRYM Deafness, autosomal dominant 40
DFNA5 Deafness, autosomal dominant 5
DFNB59 Deafness, autosomal recessive 59
DIABLO Deafness, autosomal dominant 64
DIAPH1 Deafness, autosomal dominant 1;
Seizures, cortical blindness, microcephaly syndrome
DIAPH3 Auditory neuropathy, autosomal dominant, 1
ESPN Deafness, autosomal recessive 36
ESRRB Deafness, autosomal recessive 35
EYA4 Deafness, autosomal dominant 10
FOXI1 Enlarged vestibular aqueduct
GIPC3 Deafness, autosomal recessive 15
GJB2 Bart-Pumphrey syndrome; Deafness, autosomal dominant 3A;
Deafness, autosomal recessive 1A;
Hystrix-like ichthyosis with deafness;
Keratitis-ichthyosis-deafness syndrome;
Keratoderma, palmoplantar, with deafness; Vohwinkel syndrome
GJB3 Deafness, autosomal dominant 2B; Deafness, digenic, GJB2/GJB3;
Erythrokeratodermia variabilis et progressiva 1
GJB6 Deafness, autosomal dominant 3B;
Deafness, autosomal recessive 1B; Deafness, digenic GJB2/GJB6;
Ectodermal dysplasia 2, Clouston type
GPSM2 Chudley-McCullough syndrome
GRHL2 Deafness, autosomal dominant 28;
Corneal dystrophy, posterior polymorphous, 4;
Ectodermal dysplasia/short stature syndrome
GRXCR1 Deafness, autosomal recessive 25
HARS1 Usher syndrome type 3B
HGF Deafness, autosomal recessive 39
ILDR1 Deafness, autosomal recessive 42
KCNJ10 Enlarged vestibular aqueduct, digenic; SESAME syndrome
KCNQ4 Deafness, autosomal dominant 2A
LHFPL5 Deafness, autosomal recessive 67
LOXHD1 Deafness, autosomal recessive 77
LRTOMT Deafness, autosomal recessive 63
MAN2B1 Mannosidosis, alpha-, types I and II
MARVELD2 Deafness, autosomal recessive 49
MIR96 Deafness, autosomal dominant 50
MSRB3 Deafness, autosomal recessive 74
MYH14 Deafness, autosomal dominant 4A;
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
MYH9 Deafness, autosomal dominant 17;
Macrothrombocytopenia and granulocyte inclusions
with or without nephritis or sensorineural hearing loss
MYO15A Deafness, autosomal recessive 3
MYO3A Deafness, autosomal recessive 30
MYO6 Deafness, autosomal dominant 22;
Deafness, autosomal recessive 37
MYO7A Usher syndrome, type 1B;
Deafness, autosomal recessive 2; Deafness, autosomal dominant 11
OTOA Deafness, autosomal recessive 22
OTOF Deafness, autosomal recessive 9
PCDH15 Usher syndrome, type 1F;
Usher syndrome, type 1D/F digenic;
Deafness, autosomal recessive 23
PDZD7 Usher syndrome, type IIC, GPR98/PDZD7 digenic
POU3F4 Deafness, X-linked 2
POU4F3 Deafness, autosomal dominant 15
PRPS1 Deafness, X-linked 1;
Charcot-Marie-Tooth disease, X-linked recessive, 5; Arts syndrome; Gout,
PRPS-related
PTPRQ Deafness, autosomal dominant 73;
Deafness, autosomal recessive 84A
RDX Deafness, autosomal recessive 24
SERPINB6 Deafness, autosomal recessive 91
SIX1 Deafness, autosomal dominant 23;
Branchiootic syndrome 3
SLC17A8 Deafness, autosomal dominant 25
SLC26A4 Deafness, autosomal recessive 4,
with enlarged vestibular aqueduct; Pendred syndrome
SLC26A5 Deafness, autosomal recessive 61
SMPX Deafness, X-linked 4
STRC Deafness, autosomal recessive 16
TECTA Deafness, autosomal dominant 8/12;
Deafness, autosomal recessive 21
TJP2 Cholestasis, progressive familial intrahepatic 4;
Hypercholanemia, familial
TMC1 Deafness, autosomal dominant 36;
Deafness, autosomal recessive 7
TMIE Deafness, autosomal recessive 6
TMPRSS3 Deafness, autosomal recessive 8/10
TPRN Deafness, autosomal recessive 79
TRIOBP Deafness, autosomal recessive 28
TRMU Deafness, mitochondrial, modifier of;
Liver failure, transient infantile
USH2A Usher syndrome, type 2A; Retinitis pigmentosa 39
USH1C Usher syndrome, type 1C;
Deafness, autosomal recessive 18A
USH1G Usher syndrome, type 1G
WFS1 Deafness, autosomal dominant 6/14/38; Cataract 41;
Wolfram syndrome 1; Wolfram-like syndrome, autosomal dominant;
Diabetes mellitus, noninsulin-dependent, association with
WHRN Usher syndrome, type 2D

Asper Otogenetics

Published 03/07/2015

Sensorineural hearing loss testing panels are now included into Asper Otogenetics portfolio, which also contains tests for diagnostics of numerous syndromes related to sensorineural and conductive hearing loss. Our multi-gene panels provide clinicians valuable tool for accurate differential diagnosis of syndromes with a similar phenotypic spectrum.

Updated version of Sensorineural Hearing Loss test

Published 07/06/2011

Asper Biotech has updated Sensorineural Hearing Loss (SNHL) genetic test. The new version includes five additional genes – KCNQ4, TCM1, MYO15A, MYO7A, as well as 232kb deletion from GJB6 gene [del(GJB6-D13S1854)]. Now the SNHL microarray covers the analysis of 11 genes – GJB2, GJB6, GJB3, SLC26A5, SLC26A4, MTNR1, MTTS1, KCNQ4, TCM1, MYO15A, MYO7A – and detects 246 mutations instead of 198 of the earlier version.

Sensorineural Hearing loss NGS panel

Published 22/04/2010

Sensorineural Hearing Loss
NGS panel

Genes
(full
coding
region):		 ACTG1, ADGRV1, ATP2B2, ATP6V1B1, BSND, CCDC50, CDH23, CEACAM16, CIB2, CLDN14, CLRN1, COCH, COL11A2, CRYM, DFNA5, DFNB59, DIABLO, DIAPH1, DIAPH3, ESPN, ESRRB, EYA4, FOXI1, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, HARS1, HGF, ILDR1, KCNJ10, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MAN2B1, MARVELD2, MIR96, MSRB3, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, OTOA, OTOF, PCDH15, PDZD7, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, SERPINB6, SIX1, SLC17A8, SLC26A4, SLC26A5, SMPX, STRC, TECTA, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP (excluding exon 7), TRMU, USH2A, USH1C, USH1G, WFS1, WHRN

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Targeted regions sequencing

Genes (targeted regions): GJB2, GJB3, GJB6, KCNQ4, MYO7A, MYO15A, MT-RNR1, MT-TS1, SLC26A4, SLC26A5, TMC1
Lab method: Next generation sequencing
TAT: 2-4 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Sequencing of the GJB2 gene

Genes: GJB2
Lab method: Sanger sequencing
TAT: 2-4 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

300 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Determination of molecular genetic basis both of nonsyndromic and/or syndromic SNHL
  3. Distinguish different forms of nonsyndromic hearing loss and deafness
  4. Define etiology of hearing loss after aminoglycoside therapy
  5. Detection the carrier status of individuals with family history of maternally-inherited hearing loss with or without aminoglycoside therapy
  6. Detection the carrier status of relatives with a known mutation
  7. Genetic counseling
  8. Prenatal diagnosis

Hereditary sensorineural hearing loss (SNHL) includes syndromic and non-syndromic forms. The syndromic forms of SNHL include Usher syndrome, Pendred syndrome, Waardenburg syndrome, Jervell and Lange-Nielsen syndromes, etc. Most cases of SNHL are nonsyndromic. SNHL can follow a pattern of autosomal dominant, autosomal recessive, x-linked recessive, or mitochondrial inheritance.