U.S. flag

An official website of the United States government

Filters

Test type

Test purpose

Test method

Test service

Laboratory certification

Specimen type

See more specimen types...

Laboratory location

Other countries

See more countries

Results: 1 to 20 of 37

Tests names and labsConditionsGenes, analytes, and microbesMethods

CBLIF Gene Intrinsic factor deficiency NGS Genetic DNA Test

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

CBLIF - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • 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

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

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

Intrinsic factor deficiency, 261000, Autosomal recessive; IFD (Congenital intrinsic factor deficiency) (GIF 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

GIF - Intrinsic factor deficiency

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

WES metabolic disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1625
  • E Sequence analysis of select exons

Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Panel

PreventionGenetics, part of Exact Sciences
United States
3439
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Metabolic Diseases Panel

CGC Genetics Unilabs
Portugal
1837
  • C Sequence analysis of the entire coding region

Movement diseases (WES based NGS panel of 931 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
10930
  • C Sequence analysis of the entire coding region

Idiopathic renal failure on young (NGS panel of 173 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1173
  • C Sequence analysis of the entire coding region

Hematology Comprehensive Panel 

CGC Genetics Unilabs
Portugal
1291
  • C Sequence analysis of the entire coding region

Anemia Panel

CGC Genetics Unilabs
Portugal
1174
  • C Sequence analysis of the entire coding region

Intrinsic factor deficiency (sequence analysis of GIF gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Hereditary Anemias Panel

Mendelics
Brazil
1183
  • C Sequence analysis of the entire coding region

MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES)

Laboratorio de Genetica Clinica SL
Spain
11372
  • E Sequence analysis of select exons

Results: 1 to 20 of 37

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.