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Results: 1 to 20 of 274

Tests names and labsConditionsGenes, analytes, and microbesMethods

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
  • C Sequence analysis of the entire coding region

Rett Syndrome exon 4 hotspot mutations

Molecular Genetics Laboratory All India Institute of Medical Sciences Kalyani
India
21
  • X Mutation scanning of select exons

MECP2 Gene Mental retardation X-linked, syndromic, Lubs type NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

MECP2 Gene Mental retardation, X-Linked type 13 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

MECP2 Gene Angelman-like syndrome NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

MECP2 Gene Autism susceptibility, X-linked type 3 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

MECP2 Gene Encephalopathy neonatal severe NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

MECP2 Gene Rett syndrome NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

MECP2 Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Comprehensive Epilepsy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1318
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

qChip 1M

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 60k post-natal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 400

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

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

Rapid microarray (CGH and SNP)

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

qChip 60k prenatal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

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

Results: 1 to 20 of 274

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.