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GTR Home > Laboratories > Amplexa Genetics

Amplexa Genetics

GTR Lab ID: 283396, Last updated:2023-01-17
Annual Review past due read more


Conditions and tests

  • Achromatopsia1 test
  • Albinism1 test
  • Autosomal dominant retinitis pigmentosa1 test
  • Autosomal recessive retinitis pigmentosa1 test
  • Bardet-Biedl syndrome1 test
  • Bilateral frontoparietal polymicrogyria1 test
  • Brain malformation1 test
  • Brain small vessel disease 1 with or without ocular anomalies1 test
  • Cataract1 test
  • Childhood epilepsy1 test
  • Chromosome 2q37 deletion syndrome1 test
  • Cone dystrophy1 test
  • Cone-rod dystrophy1 test
  • Congenital stationary night blindness1 test
  • COVID-191 test
  • Developmental and epileptic encephalopathy, 11 test
  • Developmental and epileptic encephalopathy, 141 test
  • Developmental and epileptic encephalopathy, 241 test
  • DYRK1A-related intellectual disability syndrome1 test
  • Epilepsy1 test
  • Epilepsy, childhood absence, susceptibility to, 51 test
  • Epilepsy, idiopathic generalized, susceptibility to, 101 test
  • Epilepsy, idiopathic generalized, susceptibility to, 131 test
  • Epileptic encephalopathy2 tests
  • Familial aplasia of the vermis1 test
  • Familial exudative vitreoretinopathy1 test
  • Familial focal epilepsy with variable foci1 test
  • Febrile seizures, familial, 111 test
  • Febrile seizures, familial, 81 test
  • Glaucoma1 test
  • Hermansky-Pudlak syndrome2 tests
  • Heterotopia, periventricular, X-linked dominant1 test
  • Intellectual disability, autosomal dominant 131 test
  • Intellectual disability, autosomal dominant 61 test
  • Intellectual disability, autosomal dominant 81 test
  • Intellectual disability, X-linked 11 test
  • Lafora disease1 test
  • Landau-Kleffner syndrome1 test
  • Leber congenital amaurosis1 test
  • Leber optic atrophy1 test
  • Lissencephaly type 1 due to doublecortin gene mutation1 test
  • Macular dystrophy1 test
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21 test
  • Microcephaly, epilepsy, and diabetes syndrome1 test
  • Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome1 test
  • Microphthalmia1 test
  • Oculomotor apraxia1 test
  • Ophthalmoplegia1 test
  • Optic atrophy1 test
  • Osteogenesis imperfecta1 test
  • Periventricular heterotopia with microcephaly, autosomal recessive1 test
  • Periventricular nodular heterotopia 61 test
  • Phytanic acid storage disease1 test
  • Progressive myoclonic epilepsy1 test
  • Progressive myoclonic epilepsy type 31 test
  • Progressive myoclonic epilepsy type 61 test
  • Pyridoxine-dependent epilepsy1 test
  • Renal dysplasia and retinal aplasia1 test
  • Retinal flecks2 tests
  • Schizencephaly1 test
  • Septo-optic dysplasia sequence2 tests
  • Severe early-childhood-onset retinal dystrophy1 test
  • Stickler syndrome1 test
  • Unverricht-Lundborg syndrome1 test
  • Usher syndrome1 test
  • Wagner syndrome2 tests
  • X-linked retinitis pigmentosa2 tests

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously

List of certifications/licenses


  • DANAK, Number: 06-1023, Expiration date: 2023-10-31

Participation in external programs

Standardization programs

  • Locus-specific Databases
  • Mutation-specific Databases

Data exchange Programs

  • Locus-specific Databases
  • Mutation-specific Databases

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.