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Results: 1 to 20 of 29

Tests names and labsConditionsGenes, analytes, and microbesMethods

Bare lymphocyte syndrome, type I, 604571, Autosomal recessive (Immunodeficiency by defective expression of HLA class 1) (TAPBP gene) (Sequence Analysis-All Coding Exons) (Postnatal)

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

Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571, Autosomal recessive (Immunodeficiency by defective expression of HLA class 1) (TAP2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

Bare lymphocyte syndrome, type I, 604571, Autosomal recessive (Immunodeficiency by defective expression of HLA class 1) (TAP1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

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

Bare lymphocyte syndrome, type I, 604571, Autosomal recessive (Immunodeficiency by defective expression of HLA class 1) (TAP1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

Bare lymphocyte syndrome, type I, 604571, Autosomal recessive (Immunodeficiency by defective expression of HLA class 1) (TAPBP gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571, Autosomal recessive (Immunodeficiency by defective expression of HLA class 1) (TAP2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

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

Severe Combined Immunodeficiency Panel

Mayo Clinic Laboratories Mayo Clinic
United States
6163
  • C Sequence analysis of the entire coding region

BARE LYMPHOCYTE SYNDROME, TYPE I (Immunodeficiency by defective expression of HLA class 1) (TAP1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

Wegener-like granulomatosis (Immunodeficiency by defective expression of HLA class 1) (TAP2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

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

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

Invitae
United States
173127
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Primary Immunodeficiency Panel

Invitae
United States
530404
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
843637
  • D Deletion/duplication analysis

Bare lymphocyte syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
56
  • C Sequence analysis of the entire coding region

HLA class 1 expression deficit (deletions/duplications in TAP2 gene)

CGC Genetics
Portugal
11
  • D Deletion/duplication analysis

TAP1 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

TAP2 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

Immunodeficiencies affecting cellular and humoral immunity (WES based NGS panel of 52 genes, including CNV analysis)

CGC Genetics
Portugal
6152
  • C Sequence analysis of the entire coding region

COMPREHENSIVE IMMUNODEFICIENCY AND INFLAMMATORY BOWEL DISEASE PANEL

Sema4
United States
358250
  • C Sequence analysis of the entire coding region

PRIMARY IMMUNODEFICIENCY PANEL

Sema4
United States
299206
  • C Sequence analysis of the entire coding region

Comprehensive Primary Immunodeficiency NGS Panel

Fulgent Genetics
United States
1048472
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 29

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.

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