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Results: 1 to 20 of 108

Tests names and labsConditionsGenes, analytes, and microbesMethods

Familial Mediterranean fever

Inflammatory Disease Section/Clinical Genetics Service National Human Genome Research Institute
United States
11
  • E Sequence analysis of select exons

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

MEFV - NGS including CNV analysis

Centogene US, LLC - The Rare Disease Company
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MEFV - MLPA

Centogene US, LLC - The Rare Disease Company
United States
31
  • D Deletion/duplication analysis

MEFV - MLPA

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis

MEFV - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Carrier Screening Guidelines-Based Panel

Ambry Genetics
United States
199165
  • 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 Congenital Diarrhea Panel

Invitae
United States
12183
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Expanded Carrier Screening

Genome-Nilou Lab
Iran
110146
  • C Sequence analysis of the entire coding region

Familial Mediterranean fever, AR, 249100, Autosomal recessive; FMF (Familial Mediterranean fever) (MEFV gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Familial Mediterranean fever, AR, 249100, Autosomal recessive; FMF (Familial Mediterranean fever) (MLPA)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

Congenital Diarrhea and Enteropathies Panel

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

Invitae Progressive Renal Disease Panel

Invitae
United States
310195
  • D Deletion/duplication analysis

Invitae Comprehensive Carrier Screen without X-linked Disorders

Invitae
United States
228279
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
247301
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Familial Mediterranean Fever

Myriad Genetics, Inc.
United States
11
  • C Sequence analysis of the entire coding region

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
527338
  • C Sequence analysis of the entire coding region

Nephrotic syndrome and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3942
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nephrotic syndrome and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3942
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 108

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.