NGS Hearing Loss Panel

Disorder Hearing Loss, Deafness
Gene Names

ACTG1

DFNA5

HARS2

MYH14

SNAI2

ADGRV1

DFNB31

HGF

MYH9

SOX10

ATP6V1B1

DFNB59

HSD17B4

MYO15A

TECTA

BSND

DIABLO

ILDR1

MYO6

TIMM8A

CACNA1D

DIAPH1

KARS

MYO7A

 TJP2

CATSPER2

EDNRB

KCNE1

 OTOA

TMC1

CCDC50

EDN3

KCNJ10

OTOF

TMIE

CDH23

ESPN

 KCNQ1

PAX3

TMPRSS3

CEACAM16

ESRRB

KCNQ4

PCDH15

TPRN

CIB2

EYA1

LARS2

POU3F4

TRIOBP

CLDN14

EYA4

LHFPL5

POU4F3

TSPEAR

CLPP

FOXI1

LOXHD1

PRPS1

USH1C

CLRN1

GIPC3      

LRTOMT

RDX

USH1G

COCH

GJB2         

MAN2B1

SERPINB6

USH2A

COL4A3

GJB3

MARVELD2

SIX1

WFS1

COL4A4

GJB6

MITF

SLC17A8

 

COL4A5

GPSM2

MSRB3

SLC26A4

 

COL11A2

GRHL2

MT-RNR1*

SLC26A5

 

CRYM

GRXCR1

MT-TS1*

SMPX

 

*Targeted analysis

Clinical info Hearing loss composes a very heterogeneous group of diagnoses and is one of the most common findings at birth, affecting about 1 in every 500 newborns with the prevalence increasing with age, (Morton & Nance 2006). Deafness is often categorized and described based on 3 key components: conductive versus sensorineural, syndromic or nonsyndromic, and prelingual or postlingual. While some hearing loss can be environmental, multifactorial, more than 50% of prelingual deafness is attributed to genetic causes.

With a large proportion of deafness due genetics and significant genetic heterogeneity, it is important to have an efficient and comprehensive testing option for patients. Identifying the underlying molecular etiology of the hearing loss has important implications for the patients and their families. A specific diagnosis can provide prognostic insights and guide treatment of the hearing loss as well as facilitate monitoring for additional associated health concerns. A clear diagnosis also prevents further, unnecessary testing and gives valuable recurrence risk information.

List of Genes and Associated Clinical Phenotypes

Indications

For patients with a specific suspected disorder, individual gene sequencing should be considered first.

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Detection

The current design of the Hearing Loss Panel v3 covers the coding region for 91 genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. THe remaining two genes are a targeted analysis. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene if applicable. Promoter and 3' untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts.

We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution testing whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.

Associated Tests

The following genes can also be ordered as individual sequencing tests:
GJB2
Aminoglycoside-induced Hearing Loss

Effective January 1, 2017, all NGS panels are performed on an exome backbone with the potential for reflex to whole exome sequencing at a reduced cost. Please contact the laboratory to discuss the requirements for exome sequencing.

Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml.
Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen.  Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time 8-10 weeks
Prenatal testing

If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

CPT Codes 81430
Cost $3500

Insurance billing is available for this test. The Insurance Billing Form is required along with copies of the authorization or letter of agreement from the insurance company.
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

 

ACTG1 CDH23 COL11A2 EDN3 GJB2 HGF KCNQ4 MSRB3 MYO7A RDX STRC TPRN
ADGRV1 CEACAM16 CRYM ESPN GJB3 HSD17B4 LARS2 MT-RNR1 OTOA SERPINB6 TECTA TRIOBP
ATP6V1B1 CIB2 DFNA5 ESRRB GJB6 ILDR1 LHFPL5 MT-TS1 OTOF SIX1 TIMM8A TSPEAR
BSND CLDN14 DFNB31 EYA1 GPSM2 KARS LOXHD1 MYH14 PCDH15 SLC17A8 TJP2 USH1C
CACNA1D CLPP DFNB59 EYA4 GRHL2 KCNE1 LRTOMT MYH9 POU3F4 SLC26A4 TMC1 USH1G
CATSPER2 CLRN1 DIABLO FOXI1 GRXCR1 KCNJ10 MARVELD2 MYO15A POU4F3 SLC26A5 TMIE USH2A
CCDC50 COCH DIAPH1 GIPC3 HARS2 KCNQ1 MIR96 MYO6 PRPS1 SMPX TMPRSS3 WFS1

Molecular Diagnostic Lab

The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.

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