Test Code: PNL076

Deafness, non-syndromic sensorineural autosomal dominant/recessive/X-linked/mitocondrial, classic

Rare Diseases

This panel analyses over 90 genes associated with non-syndromic sensorineural hearing loss across autosomal dominant (DFNA), autosomal recessive (DFNB), X-linked (DFNX), and mitochondrial inheritance patterns. Key genes include GJB2, GJB6, SLC26A4, MYO15A, OTOF, TMC1, TMPRSS3, CDH23, USH1C, PCDH15, KCNQ4, COCH, TECTA, MYO7A, POU3F4, SMPX, 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, and guide prognosis and management. 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

Turnaround Time

21 - 28 days

Courier Requirements

Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Pricing

Genes Analyzed

91 genes

ACTG1 AIFM1 BSND CABP2 CCDC50 CEACAM16 CIB2 CLPP COCH COL11A2 COL4A6 CRYM CDH23 CLDN14 DCDC2 DFNA5 DIABLO DIAPH1 DIAPH3 DSPP ESPN ESRRB EYA4 FAM189A2 FOXI1 GIPC3 GJB2 GJB3 GJB6 GPSM2 GRXCR1 GRHL2 GRIN2A HGF HOMER2 ILDR1 KARS KCNJ10 KCNQ4 LHFPL5 LOXHD1 LRTOMT MARVELD2 MET MIR96 MITF MSRB3 MYH14 MYH9 MYO1A MYO15A MYO3A MYO6 MYO7A NLRP3 OTOA OTOF OTOG P2RX2 PCDH15 PNPT1 POU3F4 POU4F3 PRPS1 PSIP1 PTPRQ RAI1 RDX RIPOR2 SERPINB6 SIX1 SLC12A2 SLC17A8 SMPX SLC26A4 SLC26A5 SSBP1 STRC TBC1D24 TECTA TIMM8A TJP2 TMC1 TMIE TMPRSS3 TPRN TRIOBP TSPEAR USH1C WFS1 mtDNA

Methodology

Capture-based target enrichment and Next Generation Sequencing.

Test Code PNL076
Category Rare Diseases
Sample 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT 21 - 28 days
Courier Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Genes 91 genes analyzed

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