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Results: 1 to 20 of 50

Tests names and labsConditionsGenes, analytes, and microbesMethods

Autoinflammatory Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
182117
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disease Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
7750
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoMetabolic MOx

Centogene AG - the Rare Disease Company
Germany
195221
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ASAH1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • 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

Neuromuscular Panel

Centogene AG - the Rare Disease Company
Germany
325316
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
754562
  • D Deletion/duplication analysis

Invitae Comprehensive Neurometabolic Disorders Panel

Invitae
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Non-Immune Hydrops Fetalis Panel

PreventionGenetics, part of Exact Sciences
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lysosomal Storage Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
242146
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Farber lipogranulomatosis, 228000, Autosomal recessive; FRBRL (Farber disease) (ASAH1 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

Farber lipogranulomatosis, 228000, Autosomal recessive; FRBRL (Farber disease) (ASAH1 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

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
480254
  • C Sequence analysis of the entire coding region

Invitae Metabolic Non-Immune Fetal Hydrops Panel

Invitae
United States
5051
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
257191
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Autoinflammatory and Autoimmunity Syndromes Panel

Invitae
United States
223154
  • D Deletion/duplication analysis

Results: 1 to 20 of 50

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.