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Results: 1 to 20 of 63

Tests names and labsConditionsGenes, analytes, and microbesMethods

CUBN Gene Megaloblastic anemia type 1, Finnish type NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning 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

HemeZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
10796
  • 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

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Bone Marrow Failure / Anemia Panel

Centogene AG - the Rare Disease Company
Germany
212212
  • D Deletion/duplication analysis
  • 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 Comprehensive Neurometabolic Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Methylmalonic Aciduria Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Methylmalonic Aciduria-Propionic Aciduria Combined Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
228
  • 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
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

Megaloblastic anemia-1, Finnish type, 261100, Autosomal recessive (Gräsbeck-Imerslund disease) (CUBN 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

Megaloblastic anemia-1, Finnish type, 261100, Autosomal recessive (Gräsbeck-Imerslund disease) (CUBN 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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Invitae Progressive Renal Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
310195
  • D Deletion/duplication analysis

Results: 1 to 20 of 63

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.