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Results: 1 to 20 of 238

Tests names and labsConditionsGenes, analytes, and microbesMethods

NF1/SPRED1 Next Generation Sequencing and Deletion/Duplication

Medical Genomics Laboratory Department of Genetics UAB
United States
42
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Known Mutation Testing- NGS

Medical Genomics Laboratory Department of Genetics UAB
United States
91
  • E Sequence analysis of select exons

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

RASopathy NGS Panel

Medical Genomics Laboratory Department of Genetics UAB
United States
818
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons

RASOPATHY-RELATED SYNDROME

Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol
Spain
919
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

qChip 60k prenatal

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

NEUROFIBROMATOSIS TYPE 1 - NF1 gene

Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol
Spain
22
  • D Deletion/duplication analysis
  • L Linkage analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

LEGIUS SYNDROME - SPRED1 gene

Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol
Spain
22
  • D Deletion/duplication analysis
  • L Linkage analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Common Hereditary Cancer Screening Panel

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

NF1 - MLPA

Centogene US, LLC - The Rare Disease Company
United States
51
  • D Deletion/duplication analysis

CentoCancer

Centogene US, LLC - The Rare Disease Company
United States
11468
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoCancer Comprehensive

Centogene US, LLC - The Rare Disease Company
United States
156107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Solid Tumor Panel

Centogene US, LLC - The Rare Disease Company
United States
218135
  • C Sequence analysis of the entire coding region

Myeloid Tumor Panel

Centogene US, LLC - The Rare Disease Company
United States
7434
  • C Sequence analysis of the entire coding region

NF1 - NGS including CNV analysis

Centogene US, LLC - The Rare Disease Company
United States
51
  • 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

Results: 1 to 20 of 238

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.