Forms and Documents
Test Details
Expand Genes
ABHD12, ACTB, ACTG1, ADCY1, 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, FAM65B, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GATA3, GIPC3, GJA1, GJB2, GJB3, GJB6, GPR98, GPSM2, GRHL2, GRXCR1, HARS, HARS2, HGF, HOMER2, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LRTOMT, MARVELD2, MCM2, MIR96, MITF, MSRB3, 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, 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
- Alport Syndrome
- AR Deafness
- Auditory Neuropathy, Autosomal Dominant, 1
- Auditory neuropathy, autosomal recessive, 1/ DFNB9
- Baraitser-Winter syndrome 2/ DFNA20/ DFNA26
- Bart-Pumphrey Syndrome/ DFN3A/ DFNB1A/ Hystrix-like Ichthyosis with deafness
- Bartter Syndrome/ SNHL
- Branchiootic syndrome 3/ DFNA23
- Branchiootorenal (BOR) Syndrome
- Branchiootorenal syndrome 2
- Candidate Gene for Hearing Loss
- Charcot-Marie-Tooth disease type 1A/ Charcot-Marie-Tooth disease type 1E/ Dejerine-Sottas disease/ Inflammatory Demyelinating Neuropathy/ Recurrent Neuropathy with Pressure Palsies/ Roussy-Levy Syndrome
- Charcot-Marie-Tooth disease, axonal, type 2W/ Usher syndrome type 3B
- Charcot-Marie-Tooth disease, recessive intermediate, B/ DFNB89
- Chudley-McCullough syndrome
- Deafness and Myopia
- Deafness, Congenital Heart Defects, and Posterior Embryotoxon
- DFNA1
- DFNA15
- DFNA22/ DFNB37
- DFNA25
- DFNA2A
- DFNA36/ DFNB7
- DFNA3B/ DFNB1B/ Digenic Deafness
- DFNA40
- DFNA41
- DFNA44
- DFNA4B
- DFNA5
- DFNA50
- DFNA51
- DFNA64
- DFNA66
- DFNA67
- DFNA68
- DFNA69
- DFNA70
- DFNA9
- DFNB102
- DFNB103
- DFNB104
- DFNB105
- DFNB16
- DFNB18B
- DFNB24
- DFNB28
- DFNB29
- DFNB30
- DFNB35
- DFNB36
- DFNB39
- DFNB42
- DFNB49
- DFNB59
- DFNB6
- DFNB61
- DFNB63
- DFNB66
- DFNB68
- DFNB70
- DFNB79
- DFNB8/ DFNB10
- DFNB84A
- DFNB84B
- DFNB88
- DFNB93
- DFNB98
- DFNX1 / Charcot-Marie-Tooth disease-5/ Arts syndrome
- DFNX2
- DFNX4
- DFNX6
- Erythrokeratodermia variabilis et progressiva / DFNA2B/ DFNB1A/ Digenic Deafness
- Focal segmental glomerulosclerosis 6 (FSGS6)
- Hearing Loss / SNHL
- Hypoparathyroidism, sensorineural deafness, and renal disease (HDR)
- Jervell and Lange-Nielsen syndrome / Long QT syndrome 1/ Long QT syndrome 2
- Jervell and Lange-Nielsen syndrome 2 (LNS) / Long QT syndrome 5
- Mohr-Tranebjaerg syndrome
- MYH9 related disease/Macrothrombocytopenia and progressive sensorineural deafness / DFNA17
- Non-ocular stickler (STL3) / otospondylomegaepiphyseal dysplasia (OSMED)/ DFNA13/ DFNB53
- Oculodentaldigital Dysplasia/ AR SNHL
- Palmoplantar keratoderma with deafness/ Nonsyndromic Sensorineural Mitochondrial Deafness/ Aminoglycoside-Induced Deafness
- Pendred syndrome / DFNB4
- Peripheral neuropathy, hoarseness, and hearing loss, DFNA4
- Perrault Syndrome
- Perrault Syndrome / D-bifunctional Protein Deficiency
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)
- Progressive Familal Intrahepatic Cholestatis 4/ Familial Hypercholanemia/ DFNA51
- Renal tubular acidosis with deafness
- Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES/ Enlarged Vestibular Aqueduct (digenic)/ Pendred’s syndrome
- Sinoatrial node dysfunction and deafness (SANDD)/ Bradycardia and congenital deafness/ SNHL
- SNHL (AR)
- SNHL and male infertility
- Syndromic Micropthalmia Type 3
- Usher 1B, rarely 3 / DFNA11/ DFNB2
- Usher Syndrome
- Usher Syndrome Type 1/ DFNB12
- Usher Syndrome Type 1J/ DFNB48
- Usher Syndrome Type 3A/ Retinitis Pigmentosa
- Usher Type 1C / DFNA18
- Usher Type 1G
- Usher Type 2A
- Usher type 2C
- Usher Type 2D / DFNB31
- Waardenburg syndrome type 2D
- Waardenburg Syndrome types 1 and 3
- Waardenburg Syndrome, type 2A/ Tietz Albinism-Deafness Syndrome/ Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness (COMMAD)
- Waardenburg type 4B
- Waardenburg type 4C and type 2E; also peripheral demyelinating neuropathy, central dysmyelination/ Waardenburg syndrome/ Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (PCWH)
- Wolfran Syndrome and WFS like disorder/ DFNA6/ DFNA14/ DFNA38
- 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
Ordering
J806
6-8 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
Billing
81430x1, 81431x1
Yes
Yes
For price inquiries please email zebras@genedx.com
**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
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)