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Results: 1 to 20 of 45

Tests names and labsConditionsGenes, analytes, and microbesMethods

EBV/Lymphoproliferation GenePanel

Mayo Clinic Laboratories Mayo Clinic
United States
3525
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HLH Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
3523
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ALPS Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
3526
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ITK - NGS including CNV analysis

Centogene US, LLC - The Rare Disease Company
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bone Marrow Failure / Anemia Panel

Centogene US, LLC - The Rare Disease Company
United States
212212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoIEM Panel

Centogene US, LLC - The Rare Disease Company
United States
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoImmuno Panel

Centogene US, LLC - The Rare Disease Company
United States
323329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ITK - NGS including CNV analysis

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

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • 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

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
755562
  • D Deletion/duplication analysis

Invitae Hereditary Lymphoma Panel

Invitae
United States
8543
  • D Deletion/duplication analysis

Inherited Bone Marrow Failure Panel

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

Lymphoproliferative syndrome 1, 613011, Autosomal recessive; LPFS1 (Autosomal recessive lymphoproliferative disease) (ITK gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Lymphoproliferative syndrome 1, 613011, Autosomal recessive; LPFS1 (Autosomal recessive lymphoproliferative disease) (ITK gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Congenital Diarrhea and Enteropathies Panel

PreventionGenetics
United States
241157
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Autoimmune Lymphoproliferative Syndrome/ALPS Panel

PreventionGenetics
United States
1416
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Autoimmune Lymphoproliferative Disorders (ALPS) Panel

Invitae
United States
2213
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel

Invitae
United States
3724
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 45

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.