Hearing Loss Panel (J806) HEARLOSS

Synonyms

Allscripts (AEHR) Order Name

Hearing Loss Panel (J806)

Sunrise Clinical Manager (SCM) Order Name

Hearing Loss Panel

Clinical Info

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.

Specimen Type

Container

Lavender Top Tube

Collection Instructions

Container/Tube: Lavender Top Tube
Specimen: 4 mL Whole Blood (2 mL min) or Buccal Swab
Transport Temperature: Room Temperature

Transport Instructions

Specimen Stability

Methodology

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

Days Performed

TAT: 4 Weeks

Performing Laboratory

GeneDx/Sema4

CPT

81430
81431

PDM

225318

Result Interpretation

Forms

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