Molecular Otolaryngology and Renal Research Laboratories

Personnel

Director: Richard Smith, MD, ABOto, Lab Director
Phone: 319-356-3612
Fax: 319-356-4108
Email: [email protected]
Contact note: [email protected]
Amy Weaver, Administrator
Phone: 319-335-6623
Fax: 319-335-9890
Email: [email protected]
Contact note: [email protected]
Jori Hendon, BA, Administrator
Phone: 319-335-6653
Fax: 319-335-9890
Email: [email protected]
Contact note: [email protected]

Conditions and tests

319 conditions/phenotypes with 6 tests
Enter text to narrow down the list

3MC syndrome 11 test
AHUS, SUSCEPTIBILITY TO, 71 test
Alpha mannosidosis type II1 test
Alport syndrome1 test
Alstrom syndrome1 test
Amikacin response1 test
Aminoglycoside antibacterials response1 test
Aminoglycoside-induced deafness2 tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency2 tests
Atrophia bulborum hereditaria1 test
Atypical hemolytic-uremic syndrome1 test
Atypical hemolytic-uremic syndrome with B factor anomaly1 test
Atypical hemolytic-uremic syndrome with C3 anomaly1 test
Atypical hemolytic-uremic syndrome with I factor anomaly1 test
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1 test
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly1 test
Auditory neuropathy-optic atrophy syndrome1 test
Autosomal dominant auditory neuropathy 11 test
Autosomal dominant cerebellar ataxia, deafness and narcolepsy1 test
Autosomal dominant deafness - onychodystrophy syndrome1 test
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome2 tests
Autosomal dominant nonsyndromic hearing loss2 tests
Autosomal dominant nonsyndromic hearing loss 11 test
Autosomal dominant nonsyndromic hearing loss 101 test
Autosomal dominant nonsyndromic hearing loss 111 test
Autosomal dominant nonsyndromic hearing loss 121 test
Autosomal dominant nonsyndromic hearing loss 131 test
Autosomal dominant nonsyndromic hearing loss 151 test
Autosomal dominant nonsyndromic hearing loss 161 test
Autosomal dominant nonsyndromic hearing loss 171 test
Autosomal dominant nonsyndromic hearing loss 201 test
Autosomal dominant nonsyndromic hearing loss 211 test
Autosomal dominant nonsyndromic hearing loss 221 test
Autosomal dominant nonsyndromic hearing loss 231 test
Autosomal dominant nonsyndromic hearing loss 251 test
Autosomal dominant nonsyndromic hearing loss 271 test
Autosomal dominant nonsyndromic hearing loss 281 test
Autosomal dominant nonsyndromic hearing loss 2A1 test
Autosomal dominant nonsyndromic hearing loss 2B1 test
Autosomal dominant nonsyndromic hearing loss 301 test
Autosomal dominant nonsyndromic hearing loss 311 test
Autosomal dominant nonsyndromic hearing loss 361 test
Autosomal dominant nonsyndromic hearing loss 3A1 test
Autosomal dominant nonsyndromic hearing loss 3B1 test
Autosomal dominant nonsyndromic hearing loss 401 test
Autosomal dominant nonsyndromic hearing loss 411 test
Autosomal dominant nonsyndromic hearing loss 441 test
Autosomal dominant nonsyndromic hearing loss 481 test
Autosomal dominant nonsyndromic hearing loss 491 test
Autosomal dominant nonsyndromic hearing loss 4A1 test
Autosomal dominant nonsyndromic hearing loss 4B1 test
Autosomal dominant nonsyndromic hearing loss 51 test
Autosomal dominant nonsyndromic hearing loss 501 test
Autosomal dominant nonsyndromic hearing loss 511 test
Autosomal dominant nonsyndromic hearing loss 561 test
Autosomal dominant nonsyndromic hearing loss 581 test
Autosomal dominant nonsyndromic hearing loss 591 test
Autosomal dominant nonsyndromic hearing loss 61 test
Autosomal dominant nonsyndromic hearing loss 641 test
Autosomal dominant nonsyndromic hearing loss 651 test
Autosomal dominant nonsyndromic hearing loss 661 test
Autosomal dominant nonsyndromic hearing loss 671 test
Autosomal dominant nonsyndromic hearing loss 681 test
Autosomal dominant nonsyndromic hearing loss 691 test
Autosomal dominant nonsyndromic hearing loss 71 test
Autosomal dominant nonsyndromic hearing loss 701 test
Autosomal dominant nonsyndromic hearing loss 91 test
Autosomal dominant optic atrophy plus syndrome1 test
Autosomal recessive nonsyndromic hearing loss 1011 test
Autosomal recessive nonsyndromic hearing loss 1021 test
Autosomal recessive nonsyndromic hearing loss 1031 test
Autosomal recessive nonsyndromic hearing loss 1041 test
Autosomal recessive nonsyndromic hearing loss 121 test
Autosomal recessive nonsyndromic hearing loss 151 test
Autosomal recessive nonsyndromic hearing loss 161 test
Autosomal recessive nonsyndromic hearing loss 18A1 test
Autosomal recessive nonsyndromic hearing loss 18B1 test
Autosomal recessive nonsyndromic hearing loss 1A2 tests
Autosomal recessive nonsyndromic hearing loss 1B1 test
Autosomal recessive nonsyndromic hearing loss 21 test
Autosomal recessive nonsyndromic hearing loss 211 test
Autosomal recessive nonsyndromic hearing loss 221 test
Autosomal recessive nonsyndromic hearing loss 231 test
Autosomal recessive nonsyndromic hearing loss 241 test
Autosomal recessive nonsyndromic hearing loss 251 test
Autosomal recessive nonsyndromic hearing loss 261 test
Autosomal recessive nonsyndromic hearing loss 281 test
Autosomal recessive nonsyndromic hearing loss 291 test
Autosomal recessive nonsyndromic hearing loss 31 test
Autosomal recessive nonsyndromic hearing loss 301 test
Autosomal recessive nonsyndromic hearing loss 311 test
Autosomal recessive nonsyndromic hearing loss 321 test
Autosomal recessive nonsyndromic hearing loss 351 test
Autosomal recessive nonsyndromic hearing loss 361 test
Autosomal recessive nonsyndromic hearing loss 371 test
Autosomal recessive nonsyndromic hearing loss 391 test
Autosomal recessive nonsyndromic hearing loss 41 test
Autosomal recessive nonsyndromic hearing loss 421 test
Autosomal recessive nonsyndromic hearing loss 441 test
Autosomal recessive nonsyndromic hearing loss 451 test
Autosomal recessive nonsyndromic hearing loss 481 test
Autosomal recessive nonsyndromic hearing loss 491 test
Autosomal recessive nonsyndromic hearing loss 51 test
Autosomal recessive nonsyndromic hearing loss 531 test
Autosomal recessive nonsyndromic hearing loss 591 test
Autosomal recessive nonsyndromic hearing loss 61 test
Autosomal recessive nonsyndromic hearing loss 611 test
Autosomal recessive nonsyndromic hearing loss 631 test
Autosomal recessive nonsyndromic hearing loss 661 test
Autosomal recessive nonsyndromic hearing loss 671 test
Autosomal recessive nonsyndromic hearing loss 681 test
Autosomal recessive nonsyndromic hearing loss 71 test
Autosomal recessive nonsyndromic hearing loss 701 test
Autosomal recessive nonsyndromic hearing loss 741 test
Autosomal recessive nonsyndromic hearing loss 761 test
Autosomal recessive nonsyndromic hearing loss 771 test
Autosomal recessive nonsyndromic hearing loss 791 test
Autosomal recessive nonsyndromic hearing loss 81 test
Autosomal recessive nonsyndromic hearing loss 84A1 test
Autosomal recessive nonsyndromic hearing loss 84B1 test
Autosomal recessive nonsyndromic hearing loss 851 test
Autosomal recessive nonsyndromic hearing loss 861 test
Autosomal recessive nonsyndromic hearing loss 881 test
Autosomal recessive nonsyndromic hearing loss 891 test
Autosomal recessive nonsyndromic hearing loss 91 test
Autosomal recessive nonsyndromic hearing loss 911 test
Autosomal recessive nonsyndromic hearing loss 931 test
Autosomal recessive nonsyndromic hearing loss 961 test
Autosomal recessive nonsyndromic hearing loss 971 test
Autosomal recessive nonsyndromic hearing loss 981 test
Baraitser-Winter syndrome1 test
Baraitser-Winter syndrome 11 test
Baraitser-winter syndrome 21 test
Bartter disease type 4A1 test
Beta-D-mannosidosis1 test
Biotinidase deficiency1 test
Bosch-Boonstra-Schaaf optic atrophy syndrome1 test
Branchiooculofacial syndrome1 test
Branchiootorenal Spectrum Disorders1 test
Brown-Vialetto-van Laere syndrome 21 test
C3 glomerulonephritis2 tests
Camptodactyly, tall stature, and hearing loss syndrome (CATSHL syndrome)1 test
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
Cardiomyopathy and Deafness1 test
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II1 test
CFHR5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II1 test
Charcot-Marie-Tooth disease type 1E1 test
Charcot-Marie-Tooth disease type 1F1 test
Charcot-Marie-Tooth disease X-linked recessive 21 test
Charcot-Marie-Tooth disease X-linked recessive 51 test
CHARGE syndrome1 test
Chudley-McCullough syndrome1 test
Cobalamin C disease1 test
Cobalamin deficiency2 tests
Combined pituitary hormone deficiencies, genetic form1 test
Cone-rod dystrophy and hearing loss1 test
Cone-rod dystrophy and hearing loss 11 test
Congenital deafness1 test
Corneal dystrophy-perceptive deafness syndrome1 test
Craniometaphyseal dysplasia, autosomal dominant1 test
D-minus hemolytic uremic syndrome (D-HUS)1 test
D-plus hemolytic uremic syndrome (D+HUS)1 test
Deafness1 test
Deafness dystonia syndrome1 test
Deafness with labyrinthine aplasia, microtia, and microdontia1 test
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
Deafness, autosomal dominant nonsyndromic sensorineural 231 test
Deafness, autosomal dominant nonsyndromic sensorineural 241 test
Deafness, autosomal recessive 36, without vestibular involvement1 test
Deafness, enamel hypoplasia, nail defect syndrome1 test
Deafness, without vestibular involvement, autosomal dominant1 test
Deafness, X-linked 51 test
Deafness-epiphyseal dysplasia-short stature syndrome1 test
Deafness-infertility syndrome1 test
Deafness-onychodystrophy syndrome1 test
Deficiency of alpha-mannosidase1 test
Developmental malformations-deafness-dystonia syndrome1 test
DFNA 3 Nonsyndromic Hearing Loss and Deafness1 test
Diabetes-deafness syndrome maternally transmitted1 test
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome1 test
Donnai-Barrow syndrome1 test
Facial paresis, hereditary congenital, 31 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Gentamicin response1 test
Hearing loss, autosomal dominant 34, with or without inflammation1 test
Hearing loss, autosomal dominant 371 test
Hearing loss, autosomal dominant 711 test
Hearing loss, autosomal dominant 721 test
Hearing loss, autosomal dominant 731 test
Hearing loss, autosomal dominant 741 test
Hearing loss, autosomal dominant 751 test
Hearing loss, autosomal dominant 761 test
Hearing loss, autosomal dominant 801 test
Hearing loss, autosomal recessive1 test
Hearing loss, autosomal recessive 1001 test
Hearing loss, autosomal recessive 1061 test
Hearing loss, autosomal recessive 1071 test
Hearing loss, autosomal recessive 1081 test
Hearing loss, autosomal recessive 1091 test
Hearing loss, autosomal recessive 1101 test
Hearing loss, autosomal recessive 1111 test
Hearing loss, autosomal recessive 1121 test
Hearing loss, autosomal recessive 1131 test
Hearing loss, autosomal recessive 1141 test
Hearing loss, autosomal recessive 1151 test
Hearing loss, autosomal recessive 1161 test
Hearing loss, autosomal recessive 1171 test
Hearing loss, autosomal recessive 571 test
Hearing loss, autosomal recessive 941 test
Hearing loss, autosomal recessive 991 test
Hearing loss, cisplatin-induced, susceptibility to1 test
Hearing loss, X-linked 11 test
Hearing loss, X-linked 41 test
Hearing loss, X-linked 61 test
Hearing Loss/Deafness1 test
Hemolytic uremic syndrome, atypical, childhood1 test
Hemolytic uremic syndrome, atypical, susceptibility to1 test
Hemolytic uremic syndrome, atypical, susceptibility to, 11 test
Hemolytic-uremic syndrome1 test
Hereditary hearing loss and deafness3 tests
Hereditary Wilms tumor1 test
High myopia-sensorineural deafness syndrome1 test
Hirschsprung disease-hearing loss-polydactyly syndrome1 test
Huppke-Brendel syndrome1 test
Hypoparathyroidism, deafness, renal disease syndrome1 test
Hypothyroidism, congenital, nongoitrous, 81 test
Isolated hereditary congenital facial paralysis1 test
Jervell and Lange-Nielsen syndrome 11 test
Kabuki syndrome1 test
Kanamycin response1 test
Keratitis ichthyosis and deafness syndrome1 test
Keutel syndrome1 test
Leber congenital amaurosis with early-onset deafness1 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
MELAS syndrome1 test
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome1 test
Microtia with or without hearing impairment1 test
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis1 test
Mitochondrial disease1 test
Mitochondrial DNA depletion syndrome1 test
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
Mitochondrial non-syndromic sensorineural hearing loss1 test
Neurofibromatosis, type 21 test
Nonsyndromic Deafness1 test
Nonsyndromic genetic hearing loss2 tests
Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive2 tests
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
Otofaciocervical syndrome1 test
Palmoplantar keratoderma-deafness syndrome2 tests
Pendred syndrome1 test
Peroxisome biogenesis disorder1 test
Perrault syndrome1 test
Perrault syndrome 11 test
Perrault syndrome 21 test
Perrault syndrome 31 test
Perrault syndrome 41 test
Perrault syndrome 51 test
Perrault syndrome 61 test
Pfeiffer syndrome1 test
Pfeiffer syndrome type 11 test
Pfeiffer syndrome type 21 test
PHARC syndrome1 test
Pili torti-deafness syndrome1 test
Progressive deafness with stapes fixation1 test
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome1 test
Rare genetic deafness1 test
Renal tubular acidosis 31 test
Renal tubular acidosis with progressive nerve deafness1 test
Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss1 test
Riboflavin transporter deficiency1 test
Sensorineural deafness with hypertrophic cardiomyopathy1 test
Sensorineural deafness with mild renal dysfunction1 test
Sensorineural hearing loss disorder1 test
Siddiqi syndrome1 test
Sinoatrial node dysfunction and deafness1 test
Split hand-foot malformation 1 with sensorineural hearing loss1 test
Stapes ankylosis with broad thumbs and toes1 test
Stickler syndrome1 test
Streptomycin response1 test
Syndromic genetic hearing loss1 test
Temtamy preaxial brachydactyly syndrome1 test
Thrombotic microangiopathy2 tests
Thrombotic thrombocytopenic purpura1 test
Tobramycin response1 test
Treacher Collins syndrome1 test
Treacher Collins syndrome 11 test
Upshaw-Schulman syndrome2 tests
Usher syndrome2 tests
Usher syndrome type 12 tests
Usher syndrome type 1B2 tests
Usher syndrome type 1C2 tests
Usher syndrome type 1D2 tests
Usher syndrome type 1E1 test
Usher syndrome type 1F2 tests
Usher syndrome type 1G2 tests
Usher syndrome type 1H1 test
Usher syndrome type 22 tests
Usher syndrome type 2A1 test
Usher syndrome type 2C1 test
Usher syndrome type 2D1 test
Usher syndrome type 32 tests
Usher syndrome type 3A2 tests
Usher syndrome type 3B1 test
Usher syndrome, type IIC, GPR98/PDZD7 digenic1 test
Waardenburg syndrome1 test
Waardenburg syndrome type 11 test
Waardenburg syndrome type 21 test
Waardenburg syndrome type 31 test
Waardenburg syndrome type 4A1 test
Waardenburg syndrome type 4B1 test
Waardenburg syndrome type 4C1 test
Wolfram syndrome1 test
Wolfram syndrome 11 test
Wolfram syndrome 21 test
Wolfram syndrome, mitochondrial form1 test
Woodhouse-Sakati syndrome1 test
X-linked complicated corpus callosum dysgenesis1 test
X-linked deafness1 test
X-linked mixed hearing loss with perilymphatic gusher1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Custom Sequence Analysis

List of certifications/licenses

Certifications

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 16D0966193, Expiration date: 2025-06-18
JCAHO, Number: Lab CLIA: 16D0966193, Expiration date: 2025-05-12

Licenses

CA - California Department of Public Health CDPH, Number: CDS-90006201, Expiration date: 2024-03-30
MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 1679, Effective date: 2018-07-01 Non-expiring
PA - Pennsylvania Department of Health PADOH, Number: 034100, Expiration date: 2024-08-15

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.