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Home > Laboratory for Molecular Medicine > Ordering > Hearing Loss > OtoGenome Panel (110 Genes)

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Order OtoGenome™ Test (110 Genes) for Hearing Loss and Related Syndromes

Hearing loss has an incidence of 1 in 250 births and over half of these children have a genetic etiology. The comprehensive approach of the OtoGenome™ Test now makes it possible to sequence 109 genes known to cause nonsyndromic hearing loss and syndromes that can present as nonsyndromic such as Usher, Pendred, Jervell and Lange-Nielsen (JLNS), and Branchio-Oto-Renal syndrome (BOR). Read more about this test.

Requisition Form

All samples must be accompanied with a completed requisition form. Please make sure any identifiers used on the specimens are provided on the paperwork. Consent page should be signed by a health care provider. Any incomplete or missing paperwork may delay the start of testing.

Document:

Hearing Loss and Related Syndrome Requisition Form

Test Detail

Genes:

This OtoGenome Panel includes 110 genes:  ACTG1,  ADCY1  (excludes exon 1 in NM_021116.2),  ADGRV1,  ALMS1  (excludes exon 1 in NM_015120.4),  ATP6V1B1,  BCS1L,  BSND,  CABP2,  CACNA1D,  CATSPER2  (deletion analysis only), CCDC50, CD164  (excludes exon 7 in NM_001142403.1),  CDC14A, CDH23, CEACAM16, CEP78  (excludes exon 12 in NM_001098802.1),  CHD7, CIB2, CLDN14, CLIC5, CLPP, CLRN1  (excludes exon 1B in NM_174880.1)*,  COCH, COL11A2, COL4A3  (excludes exons 36 and 51 in NM_000091.4),  COL4A4  (excludes exon 31 in NM_000092.4),  COL4A5, DFNA5, DFNB59, DIABLO, DIAPH1  (excludes exon 16 and intron 23 in NM_005219.4),  EDN3, EDNRB, EPS8  (excludes exons 3, 10, 16 and 18in NM_004447.5),  ESPN  (excludes exons 1, 3, 4, 7 and 8 in NM_031475.2),  ESRRB, EYA1, EYA4, GIPC3, GJB2, GJB6, GPSM2, GRHL2, GRXCR1, HARS, HARS2, HGF  (excludes exon 12 in NM_000601.4),  HSD17B4, ILDR1, KARS, KCNE1, KCNQ1, KCNQ4  (excludes exon 1 in NM_004700.3),  KITLG, LARS2, LHFPL5, LOXHD1, LRTOMT  (excludes exons 3B and 6B in NM_001145307.1* and exon 6A in NM_145309.2)*,  MARVELD2, MIR96, MITF, MSRB3, MTRNR1  (excludes m.648-m.950),  MTTS1,  MYH14  (excludes exon 28 in NM_001145809.1),  MYH9, MYO15A  (excludes exon 2 in NM_016239.3),  MYO3A, MYO6, MYO7A, NLRP3, OSBPL2, OTOA  (excludes exons 2 and 21-27 in NM_144672.3),  OTOF, OTOG  (excludes exon 32 in NM_001277269.1),  OTOGL, P2RX2  (excludes exon 1 in NM_174873.1),  PAX3, PCDH15, PDZD7, POU3F4, POU4F3, PRPS1, RDX, RIPOR2, S1PR2, SERPINB6, SIX1, SLC26A4, SLC52A2, SLC52A3, SLITRK6, SMPX, SNAI2, SOX10, STRC  (NM_153700.2),  SYNE4, TBC1D24, TECTA, TIMM8A, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C, USH1G, USH2A  (includes deep intronic c.7595-2144A>G variant),  WFS1, WHRN.

*Exon from an alternate transcript. For additional information on reference sequences and exon coverage, please visit our website (www.partners.org/personalizedmedicine/lmm).

Lab Method:
  • Next Generation Sequencing (copy number analysis included when data meets quality standards)
  • Next Generation Amplicon Based Sequencing of GJB2 and STRC
  • Sanger confirmation of variants identified and fill in for low coverage
  • STRC, CATSPER2, and GJB6 (DFNB1) deletion analysis via droplet digital PCR

Ordering

Test Code:

lmOto-pnlBv6_L

Turn-around Time:

8-12 weeks

Specimen Required:

7ml of whole blood (3–5ml for an infant) in a lavender top tube (K2EDTA or K3EDTA) 

OR 

10 ug of DNA at a minimum concentration of 25 ng/ul (please provide DNA concentration)

Billing Information

The Laboratory for Molecular Medicine offers several billing options for our clients and their patients; however, we do not bill insurance companies and are unable to begin testing without accurate billing information.

CPT Code:

81430 (1), 81431 (1)

Price:

$3,950


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For questions, please contact us at 617-768-8500 or by email.

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