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Results: 1 to 20 of 40 (representing 22 labs)

Tests names and labsConditionsGenes and analytesMethods

Cockayne syndrome, type A

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

Ataxia Exome Panel

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

ERCC8. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

Cockayne Syndrome via the ERCC8 Gene

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

Chromosomal Instability Syndromes Sequencing Panel

PreventionGenetics
United States
108
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mental retardation - different panels

Institute of Human Genetics Cologne University
Germany
6867
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

COCKAYNE SYNDROME

Laboratorio de Genetica Clinica SL
Spain
22
  • C Sequence analysis of the entire coding region

Lipodystrophies and progeroid syndromes (NGS panel for 25 genes)

CGC Genetics
Portugal
2525
  • C Sequence analysis of the entire coding region

Progeroid syndromes (NGS panel for 12 genes)

CGC Genetics
Portugal
1212
  • C Sequence analysis of the entire coding region

Lipodystrophies and progeroid syndromes (NGS panel for 25 genes)

CGC Genetics
Portugal
2525
  • C Sequence analysis of the entire coding region

Progeroid syndromes (NGS panel for 12 genes)

CGC Genetics
Portugal
1212
  • C Sequence analysis of the entire coding region

Cockayne Syndrome , Sequencing ERCC8 Gene

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

ERCC8 single gene sequencing

Molecular Vision Laboratory
United States
11
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Skeletal / Malformation Syndrome Panel

Blueprint Genetics
Finland
13429
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cataract Panel

Blueprint Genetics
Finland
154
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cockayne Syndrome Panel

Blueprint Genetics
Finland
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Progeria and Progeroid Syndromes Panel

Blueprint Genetics
Finland
416
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Syndromal Diseases - panels

Medizinisch Genetisches Zentrum München MGZ München
Germany
14342
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mental Retardation and Dysmorphology - panels

Medizinisch Genetisches Zentrum München MGZ München
Germany
15343
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cockayne Sydrome Panel

Molecular Vision Laboratory
United States
52
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 40

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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