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Results: 21 to 40 of 158

Tests names and labsConditionsGenes, analytes, and microbesMethods

Rett syndrome, preserved speech variant, 312750, X-linked dominant; RTT (Rett syndrome) (MECP2 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

Rett syndrome, atypical, 312750, X-linked dominant (Atypical Rett syndrome) (MECP2 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

Rett syndrome, 312750, X-linked dominant (Rett syndrome) (MECP2 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

Rett syndrome, preserved speech variant, 312750, X-linked dominant; RTT (Rett syndrome) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Rett syndrome, atypical, 312750, X-linked dominant (Atypical Rett syndrome) (MECP2 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

Rett syndrome, atypical, 312750, X-linked dominant (Atypical Rett syndrome) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Rett syndrome, atypical, 312750, X-linked dominant (Atypical Rett syndrome) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Rett syndrome, 312750, X-linked dominant (Rett syndrome) (MECP2 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

Rett syndrome, 312750, X-linked dominant (Rett syndrome) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Rett syndrome, preserved speech variant, 312750, X-linked dominant; RTT (Rett syndrome) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Top 99 Genetic Causes of Developmental Delay Panel

PreventionGenetics, part of Exact Sciences
United States
17099
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Mendelian Disorders with Psychiatric Symptoms Panel

Invitae
United States
247163
  • D Deletion/duplication analysis
  • 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

Ataxia Exome

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

Dystonia Exome

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

Rett Syndrome, Angelman Syndrome and Variant Syndromes Panel

PreventionGenetics, part of Exact Sciences
United States
2726
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MECP2 Deletion/Duplication Analysis

Molecular Diagnostic Laboratory LabCorp
United States
11
  • D Deletion/duplication analysis

Invitae Epilepsy Panel

Invitae
United States
466297
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-Linked Intellectual Disability Panel

PreventionGenetics, part of Exact Sciences
United States
191141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MECP2 Sequencing, Full Gene

Molecular Diagnostic Laboratory LabCorp
United States
11
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 158

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.