Facebook Pixel Code
Section banner image
Paediatric Laboratory Medicine

Hereditary Hearing Loss: Common and Non-Syndromic Hearing Loss Panel

Background

See related pages for information sheets on Hereditary Hearing Loss: Common and Non-Syndromic Hearing Loss

Clinical Significance

See related pages for information sheets on Hereditary Hearing Loss Diseases

Test Name

Hereditary Hearing Loss: Common and Non-Syndromic Hearing Loss Panel

Alternate Name/ Synonym

HHL: Common and Non-Syndromic Hearing Loss Panel

Gene Name

  • ACTG1
  • CDH23
  • CHD7
  • CLDN14
  • COCH
  • DFNA5
  • DFNB59
  • DIAPH1
  • ESPN
  • ESRRB
  • EYA1
  • EYA4
  • GJB2
  • GJB3
  • GJB6
  • GIPC3
  • GPSM2
  • GRHL2
  • GRXCR1
  • HGF
  • ILDR1
  • KCNQ4
  • LHFPL5
  • LOXHD1
  • LRTOMT
  • MARVELD2
  • MYH14
  • MYH9
  • MYO15A
  • MYO3A
  • MYO6
  • OTOA
  • OTOF
  • PCDH15
  • POU3F4
  • POU4F3
  • PRPS1
  • RDX
  • SERPINB6
  • SIX1
  • SIX5
  • SLC17A8
  • SLC26A4
  • SLC26A5
  • SMPX
  • STRC
  • TECTA
  • TMC1
  • TMIE
  • TMPRSS3
  • TPRN
  • TRIOBP
  • WFS1

Alternate Gene Name

ACTG, DFNA20, DFNA26, DFNB12, USH1D, CDHR23, CRG, KIAA1416, FLJ20357, FLJ20361, DFNB29, DFNA31, DFNA9, COCH-5B2, ICERE-1, pejvakin, DFNA1, hDIA1, LFHL1, DFNB36, ESRL2, DFNB35, ERR2, ERRbeta, NR3B2, ERRb, BOR, DFNA10, CMD1J, DFNB1, DFNA3, CX26, NSRD1, DFNA2, EKV, CX31, DFNA3, ED2, EDH, HED, CX30, DFNB82, LGN, Pins, DFNA28, TFCP2L3, FLJ13782, BOM, DFNB25, DFNB39, SF, F-TCF, HGFB, HPTA, DFNA2, Kv7.4, DFNB67, MGC33835, dJ510O8.8, Tmhs, DFNB77, FLJ32670, LH2D1, LRRC51, DFNB63, COMT2, MRVLDC2, DFNB49, FLJ30532, TRIC, DFNA4, FLJ13881, KIAA2034, MHC16, MYH17, DFNA17, NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS, DFNB3, MYO15, DFNB30, DFNA22, DFNB37, KIAA0389, DFNB22, CT108, DFNB9, FER1L2, DFNB6, DFN3, BRN4, OTF9, DFNX2, DFNA15, BRN3C, DFN2, CMTX5, DFNX1, DFNB24, PI6, DFNB91, PTI, CAP, DFNA23, DMAHP, DFNA25, VGLUT3, DFNB4, PDS, PRES, DFNB61, DFN6, DFNX4, DFNB16, DFNA12, DFNA8, DFNB21, DFNA36, DFNB7, DFNB11, DFNB6, DFNB10, DFNB8, C9orf75, DFNB79, FLJ90254, DFNB28, HRIHFB2122, KIAA1662, Tara, DFNA6, DFNA14, DFNA38, DIDMOAD, WFS, DFNB23, USH1F, CDHR15, DFNB42, MGC50831, C19orf64, DFNB15, DFNB72, DFNB95

Test Code

HHL-Panel 1

Division

Molecular Genetics

Method

Testing will begin with GJB2 and GJB6 analysis, if negative sequencing (all genes) by Next Generation Sequencing will be initiated. Deletion & duplication analysis is also available for the genes on this panel. Please see Hereditary Hearing Loss: Deletion & Duplication analysis.

External Proficiency Testing

CAP

Turn Around Time

3-4 weeks (Prenatal), 4-6 weeks (Pregnant or Urgent), 8-10 weeks (Routine)

Disease/Condition

Common and non-syndromic hearing loss

Specimen Type

Blood; please contact the Genome Diagnostics Laboratory if you want to send gDNA. If sending a prenatal sample, please contact the laboratory prior to sending sample to discuss sample requirements.

For details about specimen requirements, please refer to: Specimen Types & Requirements (PDF).

Minimum Specimen Requirements

5-10 mL EDTA or ACD
0.5 mL EDTA (neonate); minimum 10 ug of DNA in 100 uL low TE (pH8.0)

Storage/Transportation

If sample shipment  >48 hours, ship on ice.

Special Requirements

Special Instructions for Genome Diagnostics Samples

Please ship us the blood sample within 48 hours of collection.

Interpretation

Provided with report

Information Sheets

When the Common and Non-syndromic Hearing Loss NGS Panel is requested, testing will begin with GJB2 and GJB6 testing. If negative, reflex testing to NGS testing will be initiated (See: "American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss”)