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Results: 1 to 20 of 102

Tests names and labsConditionsGenes, analytes, and microbesMethods

NeXT Dx

Personalis, Inc.
United States
1414
  • I Microsatellite instability testing (MSI)
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Hereditary Cancer Screening - Breast Cancer Panel (19 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
2219
  • X Mutation scanning of select exons

Hereditary Cancer Screening - Breast & Gynecological Cancer Panel (33 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
3733
  • 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

FANCM Gene Fanconi anemia type M NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Mesothelioma Panel

Genetic Services Laboratory University of Chicago
United States
128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NGS Panel for Fanconi anemia

BloodGenetics
Spain
2222
  • C Sequence analysis of the entire coding region

Tempus xT

Tempus Labs, Inc.
United States
2647
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

NGS Panel for Bone Marrow failure

BloodGenetics
Spain
5669
  • C Sequence analysis of the entire coding region

FANCM - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bone Marrow Failure / Anemia Panel

Centogene AG - the Rare Disease Company
Germany
212212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
754562
  • D Deletion/duplication analysis

Endeavor

PathGroup
United States
73505
  • C Sequence analysis of the entire coding region

VACTERL Association and Related Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
12384
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MarrowZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
249155
  • C Sequence analysis of the entire coding region

Inherited Bone Marrow Failure Panel

PreventionGenetics, part of Exact Sciences
United States
266186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GTC-Solid Tumor Profile Plus Fusion/Expression (DNA and RNA)

Genomic Testing Cooperative, LCA
United States
1434
  • R RNA analysis
  • C Sequence analysis of the entire coding region

GTC-Solid Tumor Profile

Genomic Testing Cooperative, LCA
United States
1434
  • C Sequence analysis of the entire coding region

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Congenital Limb Malformation Panel

PreventionGenetics, part of Exact Sciences
United States
10399
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 102

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.