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New filters have been added to narrow your search: Test target, to filter by number of genes; Genes and Conditions, to search by gene symbol or condition name; and Labs, to search by a laboratory name.

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Gene

EMG1-EMG1 N1-specific pseudouridine methyltransferase
Also know as: C2F, Grcc2f, NEP1; GeneID:10436; Location:12p13.31;
Associated condition: Bowen-Conradi syndrome

Labs matching your search


7 labs with tests matching your search, 1 lab matching in other ways
Results:
12 genetic tests from 7 labs with tests matching your search, 1 lab matching in other ways
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Tests names and labsConditionsGenes, analytes, and microbesMethods

Bowen-Conradi syndrome, 211180, Autosomal recessive; BWCNS (Bowen-Conradi syndrome) (EMG1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Bowen-Conradi syndrome, 211180, Autosomal recessive; BWCNS (Bowen-Conradi syndrome) (EMG1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

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

NGS Preconception panel (for consanguineous couples)

Amsterdam UMC Genome Diagnostics, Amsterdam University Medical Center
Netherlands
12360
  • C Sequence analysis of the entire coding region

Bowen-Conradi syndrome: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • 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

Microcephaly Xpanded Panel

GeneDx
United States
1877
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiXpanded Panel

GeneDx
United States
11501
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bowen-Conradi Syndrome (EMG1 Single Gene Test)

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

EMG1 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
51274672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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.