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Autosomal recessive non-syndromic hearing loss, NGS

Order Code
1724376
CPT
81430
Test Details
Synonyms

Hearing loss panel

TAT

21 days

Methodology

Next Generation Sequencing

Remarks

Genelist (80): ADCY1, BDP1, BSND, CABP2, CDC14A, CDH23, CEACAM16, CEP78, CIB2, CLDN14, CLIC5, COCH, COL11A2, COL4A6, CRYL1, DCDC2, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, GRXCR2, HARS2, HGF, ILDR1, KARS1, KCNE1, KCNQ1 , KITLG, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OTOA, OTOF, OTOG, OTOGL, PCDH15, PJVK, PNPT1, POU3F4, PRPS1, PTPRR, RDX, RIPOR2, S1PR2, SERPINB6, SLC26A4, SLC26A5, SLITRK6, STRC, SYNE4, TBC1D24, TECTA, TMC1, TMC2, TMEM132E, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, USH2A, WBP2, WFS1, WHRN

Performing Location

Accredited NRL Laboratory

Testing Frequency

Once a week

Test Overview

Identify autosomal recessive genetic mutations causing hearing loss; counseling and clinical management.

Specimen Type

Peripheral Blood

Volume

5-7 mL whole blood OR DNA ≥ 100 µL

Specimen Container

Lavender-top (EDTA) tube

Patient Preparation

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

Collection

This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.

Specimen Stability
Temperature Period
Refrigerated 7 days
Order Code
1724376
CPT
81430
Test Details
Synonyms

Hearing loss panel

TAT

21 days

Methodology

Next Generation Sequencing

Remarks

Genelist (80): ADCY1, BDP1, BSND, CABP2, CDC14A, CDH23, CEACAM16, CEP78, CIB2, CLDN14, CLIC5, COCH, COL11A2, COL4A6, CRYL1, DCDC2, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, GRXCR2, HARS2, HGF, ILDR1, KARS1, KCNE1, KCNQ1 , KITLG, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OTOA, OTOF, OTOG, OTOGL, PCDH15, PJVK, PNPT1, POU3F4, PRPS1, PTPRR, RDX, RIPOR2, S1PR2, SERPINB6, SLC26A4, SLC26A5, SLITRK6, STRC, SYNE4, TBC1D24, TECTA, TMC1, TMC2, TMEM132E, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, USH2A, WBP2, WFS1, WHRN

Performing Location

Accredited NRL Laboratory

Testing Frequency

Once a week

Test Overview

Identify autosomal recessive genetic mutations causing hearing loss; counseling and clinical management.

Specimen Type

Peripheral Blood

Volume

5-7 mL whole blood OR DNA ≥ 100 µL

Specimen Container

Lavender-top (EDTA) tube

Patient Preparation

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

Collection

This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.

Specimen Stability
Temperature Period
Refrigerated 7 days