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Results: 21 to 40 of 104

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Lysosomal Storage Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
242146
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GTC-Solid Tumor Profile

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

Griscelli syndrome, type 2, 607624, Autosomal recessive; GS2 (Griscelli disease) (RAB27A 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

Griscelli syndrome, type 2, 607624, Autosomal recessive; GS2 (Griscelli disease) (RAB27A 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

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

Albinism

Amplexa Genetics Amplexa Genetics A/S
Denmark
128
  • S Mutation scanning of the entire coding region

Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
3724
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Autoinflammatory and Autoimmunity Syndromes Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
226154
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
603446
  • D Deletion/duplication analysis

Invitae Bone Marrow Failure Syndromes Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
13785
  • D Deletion/duplication analysis

Oculocutaneous Albinism and Hypopigmentation Panel

PreventionGenetics, part of Exact Sciences
United States
2431
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Severe Congenital Neutropenia Panel

PreventionGenetics, part of Exact Sciences
United States
4042
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Familial Hemophagocytic Lymphohistiocytosis (FHL) Panel

PreventionGenetics, part of Exact Sciences
United States
2929
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Griscelli Syndrome-Type 2 (GS2) via the RAB27A Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Primary Immunodeficiency Panel

Baylor Genetics
United States
1463
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Hereditary neutropenia (WES based NGS panel of 35 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
135
  • C Sequence analysis of the entire coding region

Hemophagocytic lymphohistiocytosis and reticuloendotheliosis with eosinophilia, familial (WES based NGS panel of 19 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
119
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 104

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.