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Results: 1 to 20 of 155

Tests names and labsConditionsGenes, analytes, and microbesMethods

Lhermitte-Duclos syndrome, 158350, Autosomal dominant (Lhermitte-Duclos disease) (MLPA)

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

Lhermitte-Duclos syndrome, 158350, Autosomal dominant (Lhermitte-Duclos disease) (Prenatal) (MLPA)

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

Lhermitte-Duclos syndrome, 158350, Autosomal dominant (Lhermitte-Duclos disease) (PTEN gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Lhermitte-Duclos syndrome, 158350, Autosomal dominant (Lhermitte-Duclos disease) (PTEN gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Cowden syndrome 1, 158350, Autosomal dominant; CWS1 (Cowden syndrome) (MLPA)

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

Cowden syndrome 1, 158350, Autosomal dominant; CWS1 (Cowden syndrome) (PTEN gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • 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

PREVENTEST

GeneID Lab - Advanced Molecular Diagnostics
United States
6034
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qChip 60k prenatal

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

Invitae eMERGE Panel

Invitae
United States
5916
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Common Hereditary Cancer Screening Panel

PreventionGenetics, part of Exact Sciences
United States
9455
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoBreast

Centogene AG - the Rare Disease Company
Germany
5828
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoColon

Centogene AG - the Rare Disease Company
Germany
6733
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoCancer

Centogene AG - the Rare Disease Company
Germany
11468
  • D Deletion/duplication 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

Solid Tumor Panel

Centogene AG - the Rare Disease Company
Germany
218135
  • C Sequence analysis of the entire coding region

PTEN - MLPA

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis

PTEN - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 155

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.