Sensorineural Hearing Loss NGS panel

Genes
(full
coding
region):
ACTG1, ATP2B2, ATP6V1B1, BSND, CCDC50, CDH23, CEACAM16, CIB2, CLDN14, CLRN1, COCH, COL11A2, CRYM, DFNA5, DFNB31, DFNB59, DIABLO, DIAPH1, DIAPH3, ESPN, ESRRB, EYA4, FOXI1, GIPC3, GJB2, GJB3, GJB6, GPR98, GPSM2, GRHL2, GRXCR1, HGF, ILDR1, KCNJ10, KCNQ4, LHFPL5, LOXHD1, LRTOMT, 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

Price / TAT: 1314 EUR / 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

Price / TAT: 450 EUR / 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

GJB2 gene sequencing

Genes: GJB2

Lab method: Sanger sequencing

Price / TAT: 257 EUR / 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.