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Results: 1 to 20 of 36

Tests names and labsConditionsGenes, analytes, and microbesMethods

Bcell/Antibody Deficiency GenePanel

Mayo Clinic Laboratories Mayo Clinic
United States
7961
  • C Sequence analysis of the entire coding region

MOGS - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Diabetes and Obesity Panel

Centogene AG - the Rare Disease Company
Germany
247262
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
754562
  • D Deletion/duplication analysis

Invitae Supplemental Metabolic Newborn Screening Panel

Invitae
United States
253189
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital disorder of glycosylation, type IIb, 606056, Autosomal recessive; CDG2B (GCS1-CDG) (MOGS 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

Congenital disorder of glycosylation, type IIb, 606056, Autosomal recessive; CDG2B (GCS1-CDG) (MOGS 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

Primary Antibody Deficiency Panel

PreventionGenetics, part of Exact Sciences
United States
5046
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Disorders of Glycosylation (CDG) Panel

PreventionGenetics, part of Exact Sciences
United States
5654
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

Invitae Agammaglobulinemia Panel

Invitae
United States
3936
  • D Deletion/duplication analysis

Invitae Congenital Disorders of Glycosylation Panel

Invitae
United States
203152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Disorders of Glycosylation Panel

Baylor Genetics
United States
2927
  • E Sequence analysis of select exons

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
234240
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Inherited Metabolic Disorders Panel

Dhiti Omics Technologies Private Ltd
India
376317
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 36

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.