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Results: 1 to 20 of 41 (representing 18 labs)

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Allan-Herndon-Dudley syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MCT8 deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis

MCT8 sequencing and deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
11
  • C Sequence analysis of the entire coding region

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel

PreventionGenetics
United States
8183
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia Exome Panel

Genetic Services Laboratory University of Chicago
United States
287480
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegia Exome Panel

Genetic Services Laboratory University of Chicago
United States
1956
  • C Sequence analysis of the entire coding region

Dystonia Exome Panel

Genetic Services Laboratory University of Chicago
United States
93170
  • -- Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

X-Linked Intellectual Disability Sequencing Panel

PreventionGenetics
United States
8081
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Spastic Paraplegia Comprehensive Sequencing Panel

PreventionGenetics
United States
4861
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Complex Hereditary Spastic Paraplegia Sequencing Panel

PreventionGenetics
United States
4353
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Allan-Herndon-Dudley Syndrome or Monocarboxylate Transporter 8 Deficiency via the SLC16A2 Gene

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

Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel

PreventionGenetics
United States
3226
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

Hypothyroidism and Thyroid Hormone Resistance

Asper Biogene Asper Biogene LLC
Estonia
2921
  • C Sequence analysis of the entire coding region

ALLAN-HERNDON-DUDLEY SYNDROME

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Allan-Herndon-Dudley Syndrome , Sequencing SLC16A2 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegia Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
8658
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Hypothyroidism Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
1122
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 41

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.

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