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Results: 1 to 20 of 57

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

ERCC6 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Cerebral Palsy Spectrum Disorders Panel

Invitae
United States
638419
  • D Deletion/duplication analysis

Cockayne syndrome, type B, 133540, Autosomal recessive; CSB (Cockayne syndrome) (ERCC6 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Cockayne syndrome, type B, 133540, Autosomal recessive; CSB (Cockayne syndrome) (ERCC6 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ERCC6-Related Disorders

Myriad Genetics, Inc.
United States
11
  • C Sequence analysis of the entire coding region

Cockayne syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cockayne syndrome Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Progeroid syndromes and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2121
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cockayne syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
22
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Progeroid syndromes and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2121
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Progeroid syndromes and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2121
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Leukodystrophy and Leukoencephalopathy Panel

PreventionGenetics, Part of Exact Sciences
United States
201211
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel

Invitae
United States
13081
  • D Deletion/duplication analysis

Cockayne Syndrome via the ERCC6 Gene

PreventionGenetics, Part of Exact Sciences
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Chromosomal Instability Syndromes Panel

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

Cataract panel. NGS panel of 69 genes.

Genologica Medica
Spain
14669
  • C Sequence analysis of the entire coding region

Arthrogryposis panel. NGS panel of 69 genes.

Genologica Medica
Spain
13569
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 57

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.