Non-Syndrome Hearing Loss

Hearing Loss

Additional Deafness Syndromes

Non-Syndrome Hearing Loss

$600.00

Test Details

100 Genes

ACTG1, ADCY1, BDP1, BSND, CABP2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CEP78, CIB2, CLDN14, CLIC5, COCH, COL11A2, COL4A6, CRYL1, CRYM, DCDC2, DIABLO, DIAPH1, DIAPH3, DSPP, ELMOD3, EPS8, ESPN, ESRRB, EYA4, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2, GSDME, HARS2, HGF, HOMER2, ILDR1, KARS, KCNQ4, KITLG, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MIR96, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PCDH15, PJVK, PNPT1, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, RIPOR2, ROR1, S1PR2, SERPINB6, SIX1, SLC17A8, SLC26A4, SLC26A5, SLITRK6, SMPX, STRC, SYNE4, TBC1D24, TECTA, TJP2, TMC1, TMC2, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, USH1C, WFS1, WHRN

  • Hearing Loss
GeneNotes
CRYL1As mutations in the CRYL1 gene are not known to be associated with any clinical condition, sequence variants in this gene are not analyzed. However, to increase copy number detection sensitivity for large deletions including this gene and a neighboring on gene on the panel (GJB6, also known as connexin 30), this gene is evaluated for copy number variation.
TPRNExon 1 of this gene is currently not amenable to current sequencing methods, therefore, sequencing and deletion/duplication analysis will not be performed for this region.
  • Next Generation Sequencing
  • Deletion/Duplication Analyses
  • Sanger Sequencing

All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

Buccal Swab

4-6 weeks