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Results: 1 to 20 of 76

Tests names and labsConditionsGenes, analytes, and microbesMethods

Microcephaly Panel

Genetic Services Laboratory University of Chicago
United States
72133
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

WDR73 Gene Galloway-Mowat syndrome NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Ataxia Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1199
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Nephrology Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1299
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FSGS/Nephrotic Syndrome Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
2556
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

WDR73 mutation analysis (Galloway-Mowat syndrome)

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
11
  • C Sequence analysis of the entire coding region

Invitae Expanded Renal Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
693388
  • 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

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • D Deletion/duplication analysis
  • 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 Nephrotic Syndrome and Focal Segmental Glomerulosclerosis (FSGS) Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
8157
  • D Deletion/duplication analysis

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
971680
  • D Deletion/duplication analysis

Nephrotic syndrome and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2732
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Nephrotic syndrome and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2732
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Nephrotic syndrome and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2732
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Galloway-Mowat syndrome, 251300, Autosomal recessive; GAMOS (Galloway-Mowat syndrome) (WDR73 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

Galloway-Mowat syndrome, 251300, Autosomal recessive; GAMOS (Galloway-Mowat syndrome) (WDR73 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

Galloway-Mowat Syndrome (GAMOS) Panel

PreventionGenetics, part of Exact Sciences
United States
118
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 76

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.