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Results: 1 to 20 of 180

Tests names and labsConditionsGenes, analytes, and microbesMethods

MECP2-Related Disorders

Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
United States
21
  • S Mutation scanning 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

Microcephaly Panel

Genetic Services Laboratory University of Chicago
United States
72133
  • 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 Gene, Full Gene Analysis

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microdeletion / Microduplication Syndromes

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
2839
  • D Deletion/duplication analysis

Rett syndrome (MECP2 gene)

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
11
  • C Sequence analysis of the entire coding region

High-Resolution Rapid Microarray (CGH and SNP)

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

Mitochondrial Genome Sequencing and Depletion/Integrity Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
4752
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Rapid microarray (CGH and SNP)

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

CDKL5 Gene Sequencing

Michigan Medical Genetics Laboratories University of Michigan Medical School
United States
51
  • C Sequence analysis of the entire coding region

Rett/Atypical Rett Syndrome Panel

Genetic Services Laboratory University of Chicago
United States
19
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MECP2 - NGS including CNV analysis

Centogene US, LLC - The Rare Disease Company
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MECP2 - MLPA

Centogene US, LLC - The Rare Disease Company
United States
51
  • D Deletion/duplication analysis

MECP2 - MLPA

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis

MECP2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
51
  • 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 Neurodevelopmental Disorders Panel

Invitae
United States
404241
  • D Deletion/duplication analysis

Congenital Anomalies of the Gastrointestinal Tract Panel

PreventionGenetics
United States
297180
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Cerebral Palsy Spectrum Disorders Panel

Invitae
United States
646420
  • D Deletion/duplication analysis

Results: 1 to 20 of 180

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.