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Results: 1 to 20 of 32

Tests names and labsConditionsGenes, analytes, and microbesMethods

TFRC - NGS including CNV analysis

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

CentoImmuno Panel

Centogene AG - the Rare Disease Company
Germany
323329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
754562
  • D Deletion/duplication analysis

JAX SOMASEQ

The Jackson Laboratory for Genomic Medicine
United States
1517
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • R RNA analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Phagocytic Disorders Including Neutropenia Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
9268
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Iron Related Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
3927
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Immunodeficiency 46, 616740, Autosomal recessive; IMD46 (TFRC-related combined immunodeficiency) (TFRC 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

Immunodeficiency 46, 616740, Autosomal recessive; IMD46 (TFRC-related combined immunodeficiency) (TFRC 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

WES iron disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
2046
  • E Sequence analysis of select exons

ProvSeq 523

Providence St. Joseph Health Molecular Genomics Laboratory Providence St Joseph Health
United States
1523
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
186130
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

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

Primary Immunodeficiency Panel

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

Anemia Panel

CGC Genetics Unilabs
Portugal
1174
  • C Sequence analysis of the entire coding region

Immune Disorders Panel

CGC Genetics Unilabs
Portugal
1385
  • C Sequence analysis of the entire coding region

Immunodeficiency 46 (deletions/duplications in the TFRC gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Neonatal Baby Cheek Screening Test

Mendelics
Brazil
1342
  • C Sequence analysis of the entire coding region

Hereditary Anemias Panel

Mendelics
Brazil
1183
  • C Sequence analysis of the entire coding region

Immunodeficiencies and Immunologic Diseases Panel (Complete)

Mendelics
Brazil
1397
  • C Sequence analysis of the entire coding region

Treatable Disorders Panel

Mendelics
Brazil
1369
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 32

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.