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Results: 1 to 15 of 15

Tests names and labsConditionsGenes, analytes, and microbesMethods

RPSA - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • 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

Asplenia, isolated congenital, 271400, Autosomal dominant; ICAS (Familial isolated congenital asplenia) (RPSA 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

Asplenia, isolated congenital, 271400, Autosomal dominant; ICAS (Familial isolated congenital asplenia) (RPSA 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

Invitae Primary Immunodeficiency Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
552424
  • D Deletion/duplication analysis

Primary Immunodeficiency Panel

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

Immune Disorders Panel

CGC Genetics Unilabs
Portugal
1385
  • 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

Asplenia, isolated congenital: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

NewbornDx Advanced Sequencing Evaluation

Athena Diagnostics
United States
11722
  • 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

Primary Immunodeficiency Panel

Blueprint Genetics
Finland
2275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RPSA Single Gene

Fulgent Genetics
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Syndromes with immunodeficiency Panel

CeGaT GmbH
Germany
3338
  • C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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.