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Results: 21 to 40 of 60

Tests names and labsConditionsGenes, analytes, and microbesMethods

Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
234240
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Central nervous system channelopathies (WES based panel of NGS panel of 23 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
123
  • C Sequence analysis of the entire coding region

Hereditary dementias (WES based NGS panel of 44 genes, including analysis of CNVs)

CGC Genetics Unilabs
Portugal
144
  • C Sequence analysis of the entire coding region

Dentatorubral-pallidoluysian atrophy (DRPLA, CAG repeat expansion on ATN1 gene)

CGC Genetics Unilabs
Portugal
11
  • T Targeted variant analysis

Spinocerebellar ataxia panel: SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, SCA17 and Dentatorubral-pallidoluysian atrophy (DRPLA)

CGC Genetics Unilabs
Portugal
110
  • T Targeted variant analysis

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

Genetic Test for Dentatorubral-pallidoluysian atrophy - DRPLA

CGPP - Center for Predictive and Preventive Genetics IBMC - Institute for Cell and Molecular Biology
Portugal
11
  • D Deletion/duplication analysis

Genetic Test for Spinocerebellar Ataxias - SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 and DRPLA

CGPP - Center for Predictive and Preventive Genetics IBMC - Institute for Cell and Molecular Biology
Portugal
77
  • D Deletion/duplication analysis

Dentatorubral-pallidoluysian atrophy: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Congenital hypotonia, epilepsy, developmental delay, and digital anomalies: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

CoGenesis@Neuro

Codex Genetics Limited
Hong Kong
1490
  • T Targeted variant analysis

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

DRPLA (ATN1) Genetic Testing (Repeat expansion)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
11
  • E Sequence analysis of select exons

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiXpanded Panel

GeneDx
United States
11501
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spinocerebellar Ataxia Repeat Panel (SCA 8, 10, 12, 17, 36, & DRPLA)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
66
  • T Targeted variant analysis

Comprehensive Ataxia Repeat Expansion Panel (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36, DRPLA & FRDA)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
1212
  • T Targeted variant analysis

Ataxia Repeat Expansion Analysis

Fulgent Genetics
United States
1915
  • T Targeted variant analysis

ATN1 (Dentatorubral-Pallidoluysian Atrophy) Repeat Expansion

Fulgent Genetics
United States
11
  • T Targeted variant analysis

Results: 21 to 40 of 60

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.