Test Code: PNL129

Hearing Loss Panel (142 genes)

Rare diseases

This comprehensive panel analyses 142 genes associated with syndromic and non-syndromic hearing loss across all inheritance patterns, including autosomal dominant, autosomal recessive, X-linked, and mitochondrial. It covers key non-syndromic genes (GJB2, GJB6, SLC26A4, MYO15A, OTOF, TMC1, CDH23, STRC, USH2A) as well as genes for syndromic forms such as Usher syndrome, Pendred syndrome, Waardenburg syndrome, Branchio-oto-renal syndrome, and Alport syndrome (COL4A3/A4/A5). Mitochondrial variants (MT-RNR1, MT-TL1, MT-TS1, MT-CO1) are also assessed. 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

138 genes

CCDC50 CD164 CDC14A CDH23 CEACAM16 CHD7 CIB2 CLDN14 CLIC5 CLPP CLRN1 COCH COL2A1 COL11A1 COL11A2 COL4A3 COL4A4 COL4A5 COL4A6 CRYM DCDC2 DFNA5 DIABLO DIAPH1 DIAPH3 DNMT1 DSPP EDN3 EDNRB ELMOD3 EPS8 ESPN ESRRB EYA1 EYA4 FAM65B FGF3 FGFR1 FGFR2 FGFR3 FOXI1 GATA3 GIPC3 GJA1 GJB2 GJB3 GJB6 GPR98 GPSM2 GRHL2 GRXCR1 HARS HARS2 HGF HOMER2 HSD17B4 ILDR1 KARS KCNE1 KCNJ10 KCNQ1 KCNQ4 KITLG LARS2 LHFPL5 LRTOMT MARVELD2 MCM2 MIR96 MITF MSRB3 MT-CO1 MT-RNR1 MT-TL1 MT-TS1 MYH14 MYH9 MYO15A MYO3A MYO6 MYO7A NDP NLRP3 OPA1 OSBPL2 OTOA OTOF OTOG OTOGL P2RX2 PAX3 PCDH15 PDZD7 DFNB59 PMP22 PNPT1 POU3F4 POU4F3 POLR1D PRPS1 PTPRQ RDX S1PR2 SALL1 SEMA3E SERPINB6 SIX1 SIX5 SLC17A8 SLC26A4 SLC26A5 SLC33A1 SLITRK6 SMPX SNAI2 SOX10 SOX2 STRC SYNE4 TBC1D24 TBX1 TCOF1 TECTA TIMM8A TFAP2A TJP2 TMC1 TMIE TMPRSS3 TNC TPRN TRIOBP TSPEAR USH1C USH1G USH2A WFS1 WHRN

Methodology

Capture-based target enrichment and Next Generation Sequencing.

Test Code PNL129
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 138 genes analyzed

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