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Hearing Loss Panel

New York
Approved


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

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

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
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Genetic counseling, especially recurrence risk and prenatal diagnosis.

Lab Method

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

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.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.