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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Miller-Dieker lissencephaly syndrome, 247200, Autosomal dominant (Miller-Dieker syndrome) (MLPA)

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

qChip 180

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

Miller-Dieker syndrome

Genetics Service Unit National Institute of Biomedical Genomics
India
11
  • D Deletion/duplication analysis

Constitutional Chromosomal Microarray Analysis

Clinical Genomics Laboratory Laboratory for Precision Diagnostics, University of Washington
United States
261
  • D Deletion/duplication analysis

Miller-Dieker Lissencephaly Syndrome via the YWHAE Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Detection of mental retardation

Genolife InformaciĆ³n de Vida
Mexico
64
  • D Deletion/duplication analysis

Miller-Dieker syndrome

MedGene
Slovakia
11
  • D Deletion/duplication analysis

Lissencephaly

MedGene
Slovakia
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Miller-Dieker syndrome

Praxis fuer Humangenetik Wien
Austria
11
  • D Deletion/duplication analysis

Lissencephaly

Praxis fuer Humangenetik Wien
Austria
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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.