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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

Invitae Connective Tissue Disorders Panel

Invitae
United States
19592
  • D Deletion/duplication analysis

Invitae Multi-Cancer + RNA Panel

Invitae
United States
14263
  • D Deletion/duplication analysis

Potocki-Lupski syndrome, 610883, Isolated cases (17p11.2 microduplication syndrome) (Prenatal) (440)

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

Potocki-Lupski syndrome, 610883, Isolated cases (17p11.2 microduplication syndrome) (440)

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

Invitae Genetic Health Screen

Invitae
United States
409164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cancer Screen

Invitae
United States
16062
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Potocki-Lupski 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

Smith-Magenis and Potocki-Lupski syndromes via the RAI1 Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

180K CGH+SNP microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
2311
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Potocki-Lupski Syndrome

MVZ Dr. Eberhard & Partner Dortmund
Germany
11
  • D Deletion/duplication analysis

Gene dosage and expression analysis

Elsea Laboratory Baylor College of Medicine
United States
1113
  • A Analyte
  • X Protein expression
  • R RNA analysis

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.