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.
Test Detail
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).
- 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
lmOto-pnlBv6_L
8-12 weeks
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.
81430 (1), 81431 (1)
$3,950
For questions, please contact us at 617-768-8500 or by email.
