Hearing Loss Panel

Concurrent analysis of multiple nuclear genes and select variants in mitochondrial genes associated with various forms of hearing loss. 

NY Approved

Test Overview

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Genetic counseling, especially recurrence risk

Test Details

Genes

ABHD12, ACTB, ACTG1, ADCY1, ADGRV1 (GPR98), AIFM1, ALMS1, ANKH, ATP6V1B1, BDP1, BSND, CABP2, CACNA1D, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CHD7, CIB2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, CRYM, DCDC2, DFNA5, DFNB59, DIABLO, DIAPH1, DIAPH3, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GATA3, GIPC3, GJA1, GJB2(CX26), GJB3(CX31), GJB6(CX30), 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, PMP22, PNPT1, POLR1D, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, RIPOR2, S1PR2, SALL1, SEMA3E, SERPINB6, SIX1, SIX5, SLC17A8, SLC26A4, SLC26A5, SLC33A1, SLITRK6, SMPX, SNAI2, SOX10, SOX2, STRC, SYNE4, TBC1D24, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, USH1C, USH1G, USH2A, WFS1, WHRN(DFNB31)

Conditions

  • Alport Syndrome
  • Alstrom Syndrome
  • Arts Syndrome
  • Baraitser-Winter Syndrome
  • Bartter Syndrome/ SNHL
  • Branchiooculofacial Syndrome
  • Branchiootic Syndrome
  • Branchiootorenal Syndrome
  • Charcot Marie Tooth (CMT)
  • CHARGE Syndrome
  • Chudley-McCullough syndrome
  • Clouston Syndrome
  • Craniometaphyseal Dysplasia
  • Craniosynostosis
  • Deafness and Myopia
  • Deafness-Infertility Syndrome
  • Dentinogenesis Imperfecta and Deafness
  • Hereditary Sensory and Autonomic Neuropathy IE (HSAN1E)
  • Jervell and Lange-Nielsen Syndrome
  • Kallmann Syndrome
  • Keratitis-Ichthyosis-Deafness syndrome (KID syndrome)
  • Marshall syndrome
  • Maternally Inherited Deafness or Aminoglycoside-Induced Deafness
  • Maternally Inherited Diabetes and Deafness (MIDD)
  • Mohr-Tranebjaerg syndrome
  • Muckle-Wells Syndrome
  • Non-ocular stickler (STL3) / otospondylomegaepiphyseal dysplasia (OSMED)/ DFNA13/ DFNB53
  • Norrie Disease
  • Pendred Syndrome
  • Perrault Syndrome
  • Renal tubular acidosis with deafness
  • Sensorineural Hearing Loss (SNHL)
  • Sinoatrial Node Dysfunction and Deafness (SANDD)
  • Stickler syndrome
  • Syndromic Micropthalmia Type 3
  • Townes-Brocks Syndrome
  • Usher Syndrome
  • Usher Syndrome Type 1/ DFNB12
  • Usher Syndrome Type 1J/ DFNB48
  • Usher Syndrome Type 3A/ Retinitis Pigmentosa
  • Usher Type 1C / DFNA18
  • Usher Type 2A
  • Usher type 2C
  • Usher Type 2D / DFNB31
  • Vohwinkel syndrome

Lab Method

  • Deletion/Duplication Analysis
  • Long Range PCR
  • Next-Gen Sequencing
  • Sanger/ABI sequencing

Ordering Information

Test Code: J806
CPT Codes*: 81430x1, 81431x1
ABN Required: No
Turnaround Time**: 4 weeks
Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Buccal Swabs

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs