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Results: 1 to 20 of 28

Tests names and labsConditionsGenes, analytes, and microbesMethods

C9 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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

Invitae Inborn Errors of Immunity and Cytopenias Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
754562
  • D Deletion/duplication analysis

Invitae Complement Deficiency Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
3522
  • D Deletion/duplication analysis

C9 deficiency, 613825 (Immunodeficiency due to a late component of complement deficiency) (C9 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

C9 deficiency, 613825 (Immunodeficiency due to a late component of complement deficiency) (C9 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

Macular degeneration, age-related, 15, susceptibility to, 615591; ARMD15 (C9 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

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
525338
  • 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

Immunodeficiencies - complement deficiencies (WES based NGS panel of 33 genes, including analysis of CNVs)

CGC Genetics Unilabs
Portugal
133
  • C Sequence analysis of the entire coding region

Immune Disorders Panel

CGC Genetics Unilabs
Portugal
1385
  • C Sequence analysis of the entire coding region

Macular Degeneration Panel

CGC Genetics Unilabs
Portugal
120
  • C Sequence analysis of the entire coding region

STARGARDT DISEASE EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
149
  • E Sequence analysis of select exons

ATYPICAL HEMOLYTIC UREMIC SYNDROME PANEL

Laboratorio de Genetica Clinica SL
Spain
127
  • E Sequence analysis of select exons

Plugin system clutter panel. NGS panel of 75 genes.

Genologica Medica
Spain
7675
  • C Sequence analysis of the entire coding region

C9 deficiency: Full gene sequencing

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

Complement component 9 deficiency

Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
Germany
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

Complement Deficiency panel

Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
2833
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 28

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.