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Results: 1 to 20 of 68

Tests names and labsConditionsGenes, analytes, and microbesMethods

MPDU1 Gene Glycosylation disorder type 1F NGS Genetic DNA Test

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

MPDU1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • 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

CentoIEM Panel

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

Diabetes and Obesity Panel

Centogene AG - the Rare Disease Company
Germany
247262
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Supplemental Metabolic Newborn Screening Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
253189
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Disorders of Glycosylation Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital disorder of glycosylation, type If, 609180, Autosomal recessive; CDG1F (MPDU1-CDG) (MPDU1 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

Congenital disorder of glycosylation, type If, 609180, Autosomal recessive; CDG1F (MPDU1-CDG) (MPDU1 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

MPDU1 - Congenital disorder of glycosylation type If

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

Congenital Disorders of Glycosylation (CDG) Panel

PreventionGenetics, part of Exact Sciences
United States
5654
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
294481
  • C Sequence analysis of the entire coding region

Invitae Congenital Disorders of Glycosylation Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
203152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Disorders of Glycosylation Panel

Baylor Genetics
United States
2927
  • E Sequence analysis of select exons

Congenital Disorders of Glycosylation, Type If (CDG If) via the MPDU1 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Disorders of Glycosylation (CDG) Panel (Types Id, Ie, If, Ig, Ih, Ii)

PreventionGenetics, part of Exact Sciences
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epilepsy Panel

Baylor Genetics
United States
1397
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 68

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.