Home › Test Directory › Rare diseases › Deafness, non-syndromic sensorineural autosomal dominant/recessive/X-linked/mitochondrial, extended (110 Genes)
Test Code: PNL075

Deafness, non-syndromic sensorineural autosomal dominant/recessive/X-linked/mitochondrial, extended (110 Genes)

Rare diseases
This panel analyses over 110 genes associated with non-syndromic sensorineural hearing loss across autosomal dominant, autosomal recessive, X-linked, and mitochondrial inheritance patterns, including key genes such as GJB2, GJB6, SLC26A4, MYO15A, OTOF, TMC1, CDH23, and mtDNA variants. Genomic DNA is extracted from peripheral blood, enriched by capture-based target enrichment, and sequenced on an NGS platform with deletion/duplication analysis included. The panel is intended to establish a molecular diagnosis, determine the inheritance pattern for family counselling, guide prognosis and management, and enable accurate recurrence risk assessment and reproductive planning. Limitations include the inability to detect deep intronic variants, structural rearrangements, and low-level mosaicism.
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing

Genes Analyzed

110 genes
ACTG1 ADCY1 AIFM1 ATOH1 BSND CABP2 CCDC50 CD164 CDC14A CEACAM16 CIB2 CLIC5 CLPP COCH COL11A2 COL4A6 CRYM CDH23 CLDN14 DCDC2 DFNA5 DFNB59 DIABLO DIAPH1 DIAPH3 DMXL2 DSPP ELMOD3 EPS8 ESPN ESRRB EYA4 FAM189A2 FOXI1 GIPC3 GJB2 GJB3 GJB6 GPSM2 GRXCR1 GRXCR2 GRHL2 GRIN2A HGF HOMER2 ILDR1 KARS KCNJ10 KCNQ4 KITLG LHFPL5 LOXHD1 LRTOMT MARVELD2 MCM2 MET MIR96 MITF MSRB3 MYH14 MYH9 MYO1A MYO15A MYO3A MYO6 MYO7A NLRP3 OSBPL2 OTOA OTOF OTOG P2RX2 PCDH15 PNPT1 POU3F4 POU4F3 PRPS1 PSIP1 PTPRQ RAI1 RDX RIPOR2 S1PR2 SERPINB6 SIX1 SLC12A2 SLC17A8 SMPX SLC26A4 SLC26A5 SPATC1L STRC TBC1D24 SYNE4 TECTA TIMM8A TJP2 TMC1 TMIE TMPRSS3 TMTC2 TNC TPRN TRIOBP TSPEAR USH1C USP48 WFS1 WHRN mtDNA

Methodology

Capture-based target enrichment and Next Generation Sequencing.
Test Actions
Specifications
  • Test Code PNL075
  • Category Rare diseases
  • Sample 3 ml peripheral blood in EDTA (purple/pink top) tube
  • Courier Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
  • Genes 110 genes analyzed
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