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Results: 21 to 40 of 52

Tests names and labsConditionsGenes, analytes, and microbesMethods

X-Linked Intellectual Disability Panel

PreventionGenetics, part of Exact Sciences
United States
191141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Early Infantile Epileptic Encephalopathy Panel

PreventionGenetics, part of Exact Sciences
United States
144124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Macrocephaly Panel

Genetic Services Laboratory University of Chicago
United States
2668
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
240171
  • D Deletion/duplication analysis

PIGA

Institute for Human Genetics University Medical Center Freiburg
Germany
31
  • C Sequence analysis of the entire coding region

Epileptic encephalopathy panel. 128-gene NGS panel.

Genologica Medica
Spain
197128
  • C Sequence analysis of the entire coding region

Macrocephaly / overgrowth syndrome panel. 43-gene NGS panel.

Genologica Medica
Spain
8843
  • C Sequence analysis of the entire coding region

Plugin system clutter panel. NGS panel of 75 genes.

Genologica Medica
Spain
7675
  • C Sequence analysis of the entire coding region

Complete epilepsy panel. NGS panel of 283 genes.

Genologica Medica
Spain
409283
  • C Sequence analysis of the entire coding region

Early Infantile Epileptic Encephalopathy NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
11486
  • C Sequence analysis of the entire coding region

Congenital Disorders of Glycosylation Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
5141
  • C Sequence analysis of the entire coding region

Epileptic encephalopathy, early infantile: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
7676
  • C Sequence analysis of the entire coding region

Multiple congenital anomalies-hypotonia-seizures syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
33
  • C Sequence analysis of the entire coding region

Neonatal Epilepsy NGS Panel

Fulgent Genetics
United States
509275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Primary Immunodeficiency NGS Panel

Fulgent Genetics
United States
1048472
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Macrocephaly/Overgrowth Syndrome NGS Panel

Fulgent Genetics
United States
10038
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes

Reference Laboratory Genetics
Spain
6044
  • C Sequence analysis of the entire coding region

Macrocephaly , Panel Massive Sequencing (NGS) 16 Genes

Reference Laboratory Genetics
Spain
2016
  • C Sequence analysis of the entire coding region

Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes

Reference Laboratory Genetics
Spain
2828
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders

Athena Diagnostics Inc
United States
3031
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 52

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.