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Results: 1 to 20 of 151

Tests names and labsConditionsGenes, analytes, and microbesMethods

IMAGe syndrome testing (CDKN1C)

Genetic Services Laboratory University of Chicago
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beckwith-Wiedemann Syndrome

Genetics Laboratory Shodair Children's Hospital
United States
13
  • M Methylation analysis
  • U Uniparental disomy study (UPD)

Beckwith-Wiedemann Syndrome (methylation test)

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
22
  • M Methylation analysis

Hereditary Cancer Screening - Colorectal & Gastric Cancer Panel (including Pancreatic Cancer) - (43 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
5843
  • X Mutation scanning of select exons

Hereditary Cancer Screening - Nervous System & Endocrine Cancer Panel (44 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
5244
  • X Mutation scanning of select exons

Hereditary Cancer Screening - Renal/Urinary Tract Cancer Panel (Including prostate and kidney cancer) - (39 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
4039
  • X Mutation scanning of select exons

Hereditary Cancer Screening - Full Hereditary Cancer Panel (99 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
10999
  • X Mutation scanning of select exons

CDKN1C Gene, Full Gene Analysis

Mayo Clinic Laboratories Mayo Clinic
United States
31
  • 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

EPISign Whole Genome Methylation Assay

Molecular Genetics Laboratory London Health Sciences Centre
Canada
191
  • M Methylation 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

CDKN1C mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
21
  • C Sequence analysis of the entire coding region

Beckwith-Wiedemann Syndrome (Methylation Analysis)

Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine
United States
12
  • D Deletion/duplication analysis
  • M Methylation analysis
  • U Uniparental disomy study (UPD)

Invitae Expanded Renal Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Infertility Panel

Centogene AG - the Rare Disease Company
Germany
243238
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoCancer Comprehensive

Centogene AG - the Rare Disease Company
Germany
155107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 151

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.