New version of Usher Syndrome test

Published 07/05/2013

Asper Biotech has launched a new version of Usher syndrome test. The APEX-based test has been updated to include 810 alterations associated with different types of Usher syndrome, as well as nonsyndromic hearing loss and deafness.

For more comprehensive diagnostics we are also offering Usher syndrome Next-Gen Panel that covers the analysis of eleven disease-related genes – ABHD12, CDH23, CLRN1, DFNB31, HARS, GPR98, MYO7A, PCDH15, USH2A, USH1C, and USH1G.

For more information please view https://www.asperbio.com/asper-ophthalmics/usher-syndrome.

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.