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Results: 1 to 20 of 166 (representing 57 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769513
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769513
  • C Sequence analysis of the entire coding region

MECP2-Related Disorders

Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
United States
21
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

Microcephaly Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
6469
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • H Detection of homozygosity
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Rett syndrome

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

MECP2 Gene Sequencing

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
41
  • C Sequence analysis of the entire coding region

Rett/Atypical Rett Syndrome Panel

Genetic Services Laboratory University of Chicago
United States
14
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RETT syndrome (MECP2)

Molecular Genetics Laboratory London Health Sciences Centre
Canada
21
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • E Sequence analysis of select exons

MECP2 sequencing

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

MECP2 Deletion/Duplication Analysis

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

EpiRapid

Ambry Genetics
United States
3916
  • D Deletion/duplication analysis
  • 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

MECP2 Sequencing, Full Gene

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

MECP2 Sequencing, Family-targeted (Single Exon Sequencing - Known Mutation)

Molecular Diagnostic Laboratory LabCorp
United States
11
  • E Sequence analysis of select exons

Epilepsy Panel - Comprehensive

Molecular Genetics Laboratory London Health Sciences Centre
Canada
6969
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Mitochondrial Genome Sequence

Molecular Genetics Laboratory London Health Sciences Centre
Canada
2238
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MECP2, NTNG1, CDKL5. NextGeneDx. Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
13
  • C Sequence analysis of the entire coding region

Early Infantile Epileptic Encephalopathy Sequencing Panel

PreventionGenetics
United States
8280
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MECP2. MLPA testing

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

Results: 1 to 20 of 166

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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