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Results: 1 to 20 of 60

Tests names and labsConditionsGenes, analytes, and microbesMethods

RB1 testing for Retinoblastoma

Impact Genetics Dynacare/LabCorp
Canada
32
  • D Deletion/duplication analysis
  • M Methylation analysis
  • X Mutation scanning of select exons
  • R RNA analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

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

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

Genetic testing in retinoblastoma

Eye Cancer Genetics Universitätsklinikum Essen
Germany
21
  • D Deletion/duplication analysis
  • L Linkage analysis
  • S Mutation scanning of the entire coding region
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Retinoblastoma

Genetic Pathology SA Pathology
Australia
21
  • S Multicolor FISH (M-FISH)/Spectral Karyotyping™ (SKY™)
  • D Deletion/duplication analysis
  • H Detection of homozygosity
  • M Methylation analysis
  • C Sequence analysis of the entire coding region

CentoCancer Comprehensive

Centogene AG - the Rare Disease Company
Germany
156107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RB1 - MLPA

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis

RB1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Multi-Cancer + RNA Panel

Invitae
United States
14363
  • 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

Invitae 78 Gene Actionable Disorders Panel

Invitae
United States
22075
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Variant Resolution Test for CustomNext-Cancer® (+RNAinsight®)

Ambry Genetics
United States
14718
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Variant Resolution Test for MelanomaNext® (+RNAinsight®)

Ambry Genetics
United States
403
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Variant Resolution Test for CancerNext-Expanded® (+RNAinsight®)

Ambry Genetics
United States
9571
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 60

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.