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Hearing Loss NGS Panel

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Hearing Loss NGS Panel

Key Information

Lab:

Molecular

TAT:

8 weeks

Price:

$3,500

CPT Code(s):

81430

Test Code:

DHLP

Order Form

Hearing Loss NGS Panel

The Hearing Loss NGS Panel is a 147-nuclear gene and 10-mitochondrial gene panel intended for patients with a diagnosis or clinical suspicion of hearing loss.

ABHD12, ACTG1, ADGRV1, AFG2B, AIFM1, ALMS1, ARSG, ATP2B2, ATP6V1B1, ATP6V1B2, BCS1L, BSND, CABP2, CACNA1D, CATSPER2, CCDC50, CDC14A, CDH23, CEACAM16, CEP250, CEP78, CHD7, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL9A3, CRYM, DCDC2, DIABLO, DIAPH1, DIAPH3, DMXL2, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FGF3, FOXI1, GATA3, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2, GSDME, HARS2, HGF, HOMER2, HSD17B4, ILDR1, KARS1, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LMX1A, LOXHD1, LRTOMT, MAN2B1, MARVELD2, MCM2, MIR96, MITF, MPZL2, MSRB3, MT-ATP6, MT-ND1, MT-RNR1, MT-TE, MT-TH, MT-TK, MT-TL1, MT-TS1, MT-TS2, MT-TV, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PEX1, PEX6, PJVK, PNPT1, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, RIPOR2, S1PR2, SERPINB6, SIX1, SLC12A2, SLC17A8, SLC26A4, SLC26A5, SLC52A2, SLC52A3, SLITRK6, SMPX, SNAI2, SOX10, STRC, SYNE4, TBC1D24, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, TUBB4B, TWNK, USH1C, USH1G, USH2A, WHRN, WFS1

Alpha-mannosidosis, Alport syndrome, Alstrom syndrome, Aminoglycoside-induced hearing loss, Anterior segment anomalies, Auditory neuropathy spectrum disorder, Autosomal dominant cerebellar ataxia\, deafness\, and narcolepsy, Baraitser-Winter syndrome, Bart-Pumphrey syndrome, Bartter syndrome, Bjornstad syndrome, Branchiootorenal syndrome, Brown-Vialetto-Van Laere syndrome, CHARGE syndrome, Chudley-McCullough syndrome, COMMAND syndrome, Cone-rod dystrophy and hearing loss, Congenital deafness with inner ear agenesis\, microtia\, and microdontia, Congenital Deafness with Onychodystrophy\, AD, Craniofacial-Deafness-Hand syndrome, D-bifunctional protein deficiency, Deafness and myopia, Autosomal dominant deafness, Autosomal recessive deafness, Deafness-infertility syndrome, Digenic Deafness\, GJB2/GJB6, Ectodermal Dysplasia/Short Stature syndrome, Enlarged vestibular aqueduct, Epstein syndrome, Fechtner syndrome, Fibrochondrogenesis, Heimler syndrome, Hystrix-like ichthyosis with deafness, Keratitis-ichthyosis-deafness syndrome, Leber congenital amaurosis, Macrothrombocytopenia and progressive sensorineural deafness, Mitochondrial nonsyndromic sensorineural deafness, Mohr-Tranebjaerg syndrome, Nonsyndromic deafness and male infertility, Otofaciocervical syndrome, Otospondylomegaepiphyseal dysplasia, Palmoplantar keratoderma with deafness, PCWH syndrome, Pendred syndrome, Peripheral neuropathy\, myopathy\, hoarseness\, and hearing loss, Perrault syndrome, Phosphoribosylpyrophosphate synthetase superactivity, Piebaldism, Polyneuropathy\, Hearing Loss\, Ataxia\, Retinitis Pigmentosa\, and Cataract (PHARC), Recessive nonsyndromic deafness, Renal tubular acidosis, Sensorineural node dysfunction and deafness, SESAME syndrome, Sinoatrial node dysfunction and deafness, Stickler syndrome, Tietz albinism-deafness syndrome, Usher syndrome, Vohwinkel syndrome, Waardenburg syndrome, Weissenbacher-Zweymuller syndrome, Wolfram syndrome, X-linked deafness, X-linked recessive Charcot-Marie-Tooth disease 5

Clinical Information

Hearing loss comprises 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.

Technical Information

This panel is performed by Next Generation Sequencing and covers the coding regions of the listed nuclear genes and the flanking intronic sequences. Promoter, 3′ untranslated sequences, and deep intronic sequences are also covered, but only known disease-causing variants in these regions will be reported. Targeted analysis is performed for specific variants in ten mitochondrial genes that have been associated with hearing loss; however, this does not constitute a full analysis of the mitochondrial genome (please contact the diagnostic lab for more information). Variants identified on the panel are confirmed with Sanger sequencing if they do not meet certain quality thresholds.

Large deletions and duplications (CNVs) affecting the genes of the panel can be detected; however, due to defined settings in the analysis software, CNVs smaller than 2-kb may not be identified (for example, some small exonic level copy number changes may not be identified). Please note that certain types of genetic alterations including trinucleotide repeat expansions, methylation abnormalities, and balanced rearrangements (e.g., inversions, reciprocal translocations) may not be detected by the current analysis. Due to presence of a pseudogene, analysis of the STRC gene is limited to the detection of large deletions only. If there is a concern for a sequence variant in STRC, the diagnostic lab offers STRC gene-specific sequencing.

Specimen Requirements

  • The preferred sample type is 3-4 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Blood and saliva kits are available by request.
  • Send approximately 5µg of extracted DNA at a requested concentration of 90-130 ng/µl.
  • If saliva is submitted, and the extracted DNA is below quality control, then you will be contacted to submit a blood sample or the panel can be completed on an exome backbone.
  • Saliva samples must be submitted in an approved saliva kit.

Transport Instructions

  • The blood specimen should be kept at room temperature and delivered via overnight shipping. 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.
  • Extracted DNA should be sent at room temperature via overnight delivery.
  • Saliva is stable at room temperature and can be delivered via overnight or ground shipping.

Associated Tests

Connect With Our Experts

Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.

Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC

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