Order OtoGenome™ Test (87 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 87 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.
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.
ACTG1, ATP6V1B1, BSND, CACNA1D, CATSPER2, CCDC50, CDH23, CEACAM16, CIB2, CLDN14, CLPP, CLRN1, COCH, COL11A2, DIABLO, DFNA5, DFNB31, DFNB59, DIAPH1, EDN3, EDNRB, ESPN, ESRRB, EYA1, EYA4, GIPC3, GJB2, GJB6, GPR98, GPSM2, GRHL2, GRXCR1, HARS2, HSD17B4, HGF, ILDR1, KARS, KCNE1, KCNQ1, KCNQ4, LARS2, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MIR96, MITF, MSRB3, MTRNR1 (12S rRNA), MTTS1 (tRNAser(UCN)), MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, POU3F4, POU4F3, PRPS1, RDX, SERPINB6, SIX1, SLC26A4 (PDS), SMPX, SOX10, STRC, SYNE4, TBC1D24, TECTA, TIMM8A, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, USH1G, USH2A, WFS1
- Next Generation Sequencing (copy number analysis included when data meets quality standards)
- Sanger Confirmation
- STRC copy number analysis
- GJB6 D1351830 deletion analysis
7ml of whole blood (3–5ml for an infant) in a lavender top tube (K2EDTA or K3EDTA)
10 ug of DNA at a minimum concentration of 25 ng/ul (please provide DNA concentration)
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)
For questions, please contact us at 617-768-8500 or by email.