U.S. flag

An official website of the United States government

Filters

See more specimen types...
See more states

Other countries

See more countries

Results: 21 to 40 of 92

Tests names and labsConditionsGenes, analytes, and microbesMethods

Lissencephaly and related disorders Deletion / Duplication test

HNL Genomics Connective Tissue Gene Tests
United States
4642
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lissencephaly and related disorders NGS test

HNL Genomics Connective Tissue Gene Tests
United States
4642
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
289481
  • C Sequence analysis of the entire coding region

Primary Microcephaly, Autosomal Recessive, via the WDR62 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Primary Microcephaly, Autosomal Recessive, Panel

PreventionGenetics, part of Exact Sciences
United States
1010
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Brain Malformation Panel

Genetic Services Laboratory University of Chicago
United States
37131
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cerebral Palsy Spectrum Disorders Panel

Baylor Genetics
United States
1419
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Microcephaly and pontocerebellar hypoplasia (WES based panel of 53 genes, incluiding CNV analysis)

CGC Genetics Unilabs
Portugal
153
  • C Sequence analysis of the entire coding region

Malformations of cortical development panel

CGC Genetics Unilabs
Portugal
5111
  • C Sequence analysis of the entire coding region

Epilepsy panel_v.2.0

CGC Genetics Unilabs
Portugal
1759
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

CGC Genetics Unilabs
Portugal
11307
  • C Sequence analysis of the entire coding region

Microcephaly, primary type 2, AR (duplication on exon 1 of WDR62 gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Autosomal recessive primary microcephaly 2, with or without cortical malformations (deletion/duplication analysis on WDR62 gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Microcephaly, primary type 2, AR (sequence analysis of WDR62 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

HEREDITARY ATAXIAS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
11202
  • E Sequence analysis of select exons

EPILEPSY EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1696
  • E Sequence analysis of select exons

WDR62. Complete sequencing by NGS

Laboratorio de Genetica Clinica SL
Spain
11
  • E Sequence analysis of select exons

MICROCEPHALY

Laboratorio de Genetica Clinica SL
Spain
16
  • D Deletion/duplication analysis

Polymicrogyria panel. 17-gene NGS panel.

Genologica Medica
Spain
2217
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 92

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.