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Test Catalog

Test ID: HHLP    
AudioloGene Hereditary Hearing Loss Panel, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Establishing a diagnosis of a syndromic or nonsyndromic hereditary hearing loss disorder

 

Identifying variants within genes known to be associated with hereditary hearing loss, allowing for predictive testing of at-risk family members

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Hereditary hearing loss is a genetically heterogeneous condition that can be either syndromic or nonsyndromic in origin.

 

This panel evaluates 160 genes related to both syndromic and nonsyndromic hereditary hearing loss.

 

The following genes are investigated in this panel test: ABHD12, ACTG1, ADCY1, ADGRV1, AIFM1, ALMS1, ATP6V1B1, BCS1L, BDP1, BSND, BTD, CABP2, CACNA1D, CATSPER2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CEP78, CHD7, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, CRYM, DCDC2, DFNA5 (GSDME), DIABLO, DIAPH1, DIAPH3, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR2, FLNA, FOXC1, FOXI1, GATA3, GIPC3, GJB2, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2, HARS2, HGF, HOMER2, HOXA2, HSD17B4, ILDR1, JAG1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MCM2, MET, MIR96, MITF, MSRB3, MT-RNR1, MT-TS1, MYH14, MYH9, MYO3A, MYO6, MYO7A, MYO15A, NARS2, NF2, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PEX1, PEX6, PHYH, PJVK, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, PTPN11, PTPRQ, RDX, RIPOR2, S1PR2, SERPINB6, SIX1, SLC17A8, SLC22A4, SLC26A4, SLC26A5, SLC52A2, SLC52A3, SLITRK6, SMPX, SNAI2, SOX10, STRC, SYNE4, TBC1D24, TCOF1, TECTA, TIMM8A, TJP2, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TWNK, USH1C, USH1G, USH2A, WBP2, WFS1, and WHRN

 

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS)/Polymerase Chain Reaction (PCR)/digital droplet PCR (ddPCR), qPCR/Sanger Sequencing/Gene Dosage Analysis by Multiplex Ligation- Dependent Probe Amplification (MLPA)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Hereditary Hearing Loss Panel

Aliases Lists additional common names for a test, as an aid in searching

ADCADN
ARTS
AUNA1
Auditory neuropathy, autosomal dominant, 1
BOS2
BOS3
BVVLS
C10orf2
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
Charcot-Marie-Tooth disease X-linked recessive 5
CMTX5
CRDHL
Deafness, autosomal dominant 1
Deafness, autosomal dominant 2A
Deafness, autosomal dominant 2B
Deafness, autosomal dominant 3A
Deafness, autosomal dominant 3B
Deafness, autosomal dominant 4A
Deafness, autosomal dominant 4B
Deafness, autosomal dominant 5
Deafness, autosomal dominant 6/14/38
Deafness, autosomal dominant 8/12
Deafness, autosomal dominant 9
Deafness, autosomal dominant 10
Deafness, autosomal dominant 11
Deafness, autosomal dominant 13
Deafness, autosomal dominant 15
Deafness, autosomal dominant 17
Deafness, autosomal dominant 20/26
Deafness, autosomal dominant 22
Deafness, autosomal dominant 23
Deafness, autosomal dominant 25
Deafness, autosomal dominant 28
Deafness, autosomal dominant 36
Deafness, autosomal dominant 39
Deafness, autosomal dominant 41
Deafness, autosomal dominant 40
Deafness, autosomal dominant 44
Deafness, autosomal dominant 50
Deafness, autosomal dominant 51
Deafness, autosomal dominant 56
Deafness, autosomal dominant 64
Deafness, autosomal dominant 66
Deafness, autosomal dominant 67
Deafness, autosomal dominant 68
Deafness, autosomal dominant 69
Deafness, autosomal dominant 70
Deafness, autosomal dominant 73
Deafness, autosomal recessive 1A
Deafness, autosomal recessive 1B
Deafness, autosomal recessive 2
Deafness, autosomal recessive 3
Deafness, autosomal recessive 4
Deafness, autosomal recessive 4 with enlarged vestibular aqueduct
Deafness, autosomal recessive 6
Deafness, autosomal recessive 7
Deafness, autosomal recessive 8/10
Deafness, autosomal recessive 9
Deafness, autosomal recessive 15
Deafness, autosomal recessive 16
Deafness, autosomal recessive 18
Deafness, autosomal recessive 18A
Deafness, autosomal recessive 21
Deafness, autosomal recessive 22
Deafness, autosomal recessive 23
Deafness, autosomal recessive 24
Deafness, autosomal recessive 25
Deafness, autosomal recessive 28
Deafness, autosomal recessive 29
Deafness, autosomal recessive 30
Deafness, autosomal recessive 31
Deafness, autosomal recessive 35
Deafness, autosomal recessive 36
Deafness, autosomal recessive 37
Deafness, autosomal recessive 39
Deafness, autosomal recessive 42
Deafness, autosomal recessive 44
Deafness, autosomal recessive 48
Deafness, autosomal recessive 49
Deafness, autosomal recessive 53
Deafness, autosomal recessive 59
Deafness, autosomal recessive 60
Deafness, autosomal recessive 61
Deafness, autosomal recessive 63
Deafness, autosomal recessive 66
Deafness, autosomal recessive 66/67
Deafness, autosomal recessive 68
Deafness, autosomal recessive 70
Deafness, autosomal recessive 74
Deafness, autosomal recessive 76
Deafness, autosomal recessive 77
Deafness, autosomal recessive 79
Deafness, autosomal recessive 82
Deafness, autosomal recessive 84
Deafness, autosomal recessive 84A
Deafness, autosomal recessive 86
Deafness, autosomal recessive 88
Deafness, autosomal recessive 89
Deafness, autosomal recessive 91
Deafness, autosomal recessive 93
Deafness, autosomal recessive 94
Deafness, autosomal recessive 97
Deafness, autosomal recessive 98
Deafness, autosomal recessive 99
Deafness, autosomal recessive 101
Deafness, autosomal recessive 102
Deafness, autosomal recessive 103
Deafness, autosomal recessive 104
Deafness, autosomal recessive 105
Deafness, autosomal recessive 106
Deafness, autosomal recessive 107
Deafness, X-linked 1
Deafness, X-linked 2
Deafness, X-linked 4
Deafness, X-linked 5
Deafness, X-linked 6
DFNA1
DFNA2A
DFNA3A
DFNA3B
DFNA4A
DFNA4B
DFNA6/14/38
DFNA8/12
DFNA9
DFNA10
DFNA11
DFNA13
DFNA15
DFNA17
DFNA20/26
DFNA22
DFNA23
DFNA25
DFNA28
DFNA36
DFNA39
DFNA40
DFNA41
DFNA44
DFNA50
DFNA51
DFNA56
DFNA64
DFNA66
DFNA67
DFNA68
DFNA69
DFNA70
DFNA73
DFNB1A
DFNB1B
DFNB2
DFNB3
DFNB4
DFNB6
DFNB7
DFNB8
DFNB9
DFNB12
DFNB15/72/95
DFNB16
DFNB18
DFNB18A
DFNB21
DFNB22
DFNB23
DFNB24
DFNB25
DFNB28
DFNB29
DFNB30
DFNB31
DFNB35
DFNB36
DFNB37
DFNB39
DFNB42
DFNB44
DFNB48
DFNB49
DFNB53
DFNB60
DFNB61
DFNB63
DFNB66
DFNB66/67
DFNB68
DFNB70
DFNB74
DFNB76
DFNB77
DFNB79
DFNB82
DFNB84
DFNB84A
DFNB86
DFNB88
DFNB89
DFNB91
DFNB93
DFNB94
DFNB97
DFNB98
DFNB99
DFNB101
DFNB102
DFNB103
DFNB104
DFNB105
DFNB106
DFNB107
DFNX1
DFNX2
DFNX4
DFNX5
DFNX6
FAM65B
GPR98
HDR
Hypoparathyroidism, sensorineural deafness, and renal dysplasia
JLNS
Next Gen Sequencing Test
OPD
PHARC
POU4F3
RTA with deafness
SANDD
USH1B
USH1D
USH1D/F
USH1F
USH1J
USH2C
USH2D
USH3A