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Results: 1 to 18 of 18

Tests names and labsConditionsGenes, analytes, and microbesMethods

MASP2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • 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

MASP2 deficiency, 613791, Autosomal recessive (Immunodeficiency due to MASP-2 deficiency) (MASP2 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

MASP2 deficiency, 613791, Autosomal recessive (Immunodeficiency due to MASP-2 deficiency) (MASP2 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

Congenital Diarrhea and Enteropathies Panel

PreventionGenetics, part of Exact Sciences
United States
241157
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
525338
  • C Sequence analysis of the entire coding region

Infantile enterocolitis and inflammatory bowel disease monogenic (NGS panel WES based of 65 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
165
  • 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

Plugin system clutter panel. NGS panel of 75 genes.

Genologica Medica
Spain
7675
  • 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

Lectin complement activation pathway defects: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
33
  • 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

Complement System Disorder Panel

Blueprint Genetics
Finland
175
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Complement deficiencies Panel

CeGaT GmbH
Germany
834
  • C Sequence analysis of the entire coding region

MASP2 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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.