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GTR Home > Laboratories > Human Developmental Genetics Laboratory

Human Developmental Genetics Laboratory

GTR Lab ID: 242531, Last updated:2022-07-12
Annual Review past due read more

Personnel

  • Director: Elena Semina, PhD, Lab Director
    Phone: 414-955-4996
    Email: [email protected]
  • Linda Reis, MS, CGC, Genetic Counselor
    Phone: 414-955-7645
    Fax: 414-955-6329
    Email: [email protected]

Conditions and tests

  • Agenesis of corpus callosum, cardiac, ocular, and genital syndrome1 test
  • Aniridia 11 test
  • Anophthalmia1 test
  • Anophthalmia/microphthalmia-esophageal atresia syndrome1 test
  • Anterior segment dysgenesis 11 test
  • Anterior segment dysgenesis 41 test
  • Axenfeld anomaly1 test
  • Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities1 test
  • Axenfeld-Rieger syndrome1 test
  • Axenfeld-Rieger syndrome type 11 test
  • Axenfeld-Rieger syndrome type 21 test
  • Axenfeld-Rieger syndrome type 31 test
  • Bardet-Biedl syndrome1 test
  • Cataract 13 with adult I phenotype1 test
  • Cataract 26 multiple types1 test
  • Cataract 34 multiple types1 test
  • Cataract 351 test
  • Cataract 361 test
  • Cataract 381 test
  • Cataract 39 multiple types1 test
  • Cataract 9 multiple types1 test
  • Cataracts, Autosomal Dominant1 test
  • Coloboma of optic nerve1 test
  • Congenital ocular coloboma1 test
  • Congenital primary aphakia1 test
  • Glaucoma 1, open angle, A2 tests
  • Glaucoma 1, open angle, B1 test
  • Glaucoma 1, open angle, D1 test
  • Glaucoma 1, open angle, F1 test
  • Glaucoma 1, open angle, G1 test
  • Glaucoma 1, open angle, H1 test
  • Glaucoma 1, open angle, I2 tests
  • Glaucoma 1, open angle, J1 test
  • Glaucoma 1, open angle, K1 test
  • Glaucoma 1, open angle, M1 test
  • Glaucoma 1, open angle, N2 tests
  • Glaucoma 1, open angle, O1 test
  • Glaucoma 3, primary infantile, B1 test
  • Glaucoma type 1C1 test
  • Irido-corneo-trabecular dysgenesis2 tests
  • Iris hypoplasia with glaucoma1 test
  • Isolated microphthalmia 11 test
  • Leber congenital amaurosis1 test
  • Myopia1 test
  • Neuroocular syndrome1 test
  • Neurooculocardiogenitourinary syndrome1 test
  • Peters plus syndrome1 test
  • Primary open angle glaucoma2 tests
  • Retinitis pigmentosa1 test
  • Rieger anomaly1 test
  • Ring dermoid of cornea1 test
  • SHORT syndrome1 test
  • Stargardt disease1 test
  • Usher syndrome type 11 test
  • Walker-Warburg congenital muscular dystrophy1 test

List of services

  • Whole Exome Sequencing
  • Whole Genome Sequencing

Participation in external programs

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.