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ABHD12, ACTB, ACTG1, ADCY1, ADGRV1 (GPR98), AIFM1, ALMS1, ANKH, ATP6V1B1, BDP1, BSND, CABP2, CACNA1D, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CHD7, CIB2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, CRYM, DCDC2, DFNA5, DFNB59, DIABLO, DIAPH1, DIAPH3, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GATA3, GIPC3, GJA1, GJB2(CX26), GJB3(CX31), GJB6(CX30), GPSM2, GRHL2, GRXCR1, HARS, HARS2, HGF, HOMER2, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LRTOMT, MARVELD2, MCM2, MIR96, MITF, MSRB3, MT-CO1, MT-RNR1, MT-TL1, MT-TS1, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NDP, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PMP22, PNPT1, POLR1D, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, RIPOR2, S1PR2, SALL1, SEMA3E, SERPINB6, SIX1, SIX5, SLC17A8, SLC26A4, SLC26A5, SLC33A1, SLITRK6, SMPX, SNAI2, SOX10, SOX2, STRC, SYNE4, TBC1D24, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, USH1C, USH1G, USH2A, WFS1, WHRN(DFNB31)
- Albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness (ABCD) syndrome
- Alport Syndrome
- Alstrom Syndrome
- Arts Syndrome
- Baraitser-Winter Syndrome
- Bartter Syndrome/ SNHL
- Branchiooculofacial Syndrome
- Branchiootic Syndrome
- Branchiootorenal syndrome
- Charcot Marie Tooth (CMT)
- CHARGE Syndrome
- Chudley-McCullough syndrome
- Clouston Syndrome
- Congenital cataracts, hearing loss, and neurodegeneration
- Congenital deafness with Labyrinthine Aplasia, Microtia ,and Microdontia (LAMM)
- Craniometaphyseal Dysplasia
- Craniosynostosis
- Deafness and Myopia
- Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome (DOORS)
- Deafness-Infertility Syndrome
- Dentinogenesis Imperfecta and Deafness
- Hereditary Sensory and Autonomic Neuropathy IE (HSAN1E)
- Hypoparathyroidism, sensorineural deafness, and renal disease (HDR)
- Jervell and Lange-Nielsen Syndrome
- Kallmann Syndrome
- Keratitis-Ichthyosis-Deafness syndrome (KID syndrome)
- Marshall syndrome
- Maternally Inherited Deafness or Aminoglycoside-Induced Deafness
- Maternally Inherited Diabetes and Deafness (MIDD)
- Mohr-Tranebjaerg syndrome
- Muckle-Wells Syndrome
- Non-ocular stickler (STL3) / otospondylomegaepiphyseal dysplasia (OSMED)/ DFNA13/ DFNB53
- Non-syndromic hearing loss, Autosomal Dominant
- Non-syndromic hearing loss, autosomal recessive
- Non-syndromic hearing loss, X-linked
- Norrie Disease
- Optic atrophy with or without deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy
- Pendred Syndrome
- Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss
- Perrault Syndrome
- Renal tubular acidosis with deafness
- Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance syndrome (SeSAME syndrome)
- Sensorineural Hearing Loss (SNHL)
- Sinoatrial Node Dysfunction and Deafness (SANDD)
- Stickler syndrome
- Syndromic Micropthalmia Type 3
- Townes-Brocks Syndrome
- Usher Syndrome
- Usher Syndrome Type 1/ DFNB12
- Usher Syndrome Type 1J/ DFNB48
- Usher Syndrome Type 3A/ Retinitis Pigmentosa
- Usher Type 1C / DFNA18
- Usher Type 2A
- Usher type 2C
- Usher Type 2D / DFNB31
- Vohwinkel syndrome
- Molecular confirmation of a clinical diagnosis
- To assist with decisions about treatment and management
- Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
- Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
- Genetic counseling, especially recurrence risk and prenatal diagnosis.
Ordering
J806
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs
Billing
81430x1, 81431x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
References
- Morton et al. (2006) N. Engl. J. Med. 354 (20):2151-64 (PMID: 16707752)
- Wroblewska-Seniuk et al. (2017) Pediatr. Res. : (PMID: 27861465)
- Hilgert et al. (2009) Mutat. Res. 681 (2-3):189-96 (PMID: 18804553)
- Sloan-Heggen et al. (2016) Hum. Genet. 135 (4):441-50 (PMID: 26969326)
- Shearer et al. (2010) Proceedings Of The National Academy Of Sciences Of The United States Of America 107 (49):21104-9 (PMID: 21078986)
- Sommen et al. (2016) Hum. Mutat. 37 (8):812-9 (PMID: 27068579)
- Venkatesh et al. (2015) Med J Armed Forces India 71 (4):363-8 (PMID: 26663965)
- Kochhar et al. (2007) Genet. Med. 9 (7):393-408 (PMID: 17666886)
- Martínez et al. (2009) Antioxid. Redox Signal. 11 (2):309-22 (PMID: 18837651)