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Results: 1 to 12 of 12

Tests names and labsConditionsGenes, analytes, and microbesMethods

SCID Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
6550
  • C Sequence analysis of the entire coding region

HemeZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
10796
  • C Sequence analysis of the entire coding region

MTHFD1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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 Nuclear Mitochondrial Disorders Panel

Invitae
United States
394319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Phagocytic Disorders Including Neutropenia Panel

Invitae
United States
9268
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Panel

PreventionGenetics, part of Exact Sciences
United States
3439
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Invitae
United States
177130
  • D Deletion/duplication analysis

Invitae Methylmalonic Acidemia and Homocystinuria Panel

Invitae
United States
2929
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia: Full gene sequencing

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

Severe Combined Immunodeficiency

Asper Biogene Asper Biogene LLC
Estonia
6143
  • C Sequence analysis of the entire coding region

Results: 1 to 12 of 12

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