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Results: 1 to 20 of 100

Tests names and labsConditionsGenes, analytes, and microbesMethods

FLNA Gene Cardiac valvular dysplesia, X-linked NGS Genetic DNA Test

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

DPM3 Gene Glycosylation disorder type 1O NGS Genetic DNA Test

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

Neuromuscular Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1216
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

LGMD and CMS Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
265
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders exome

Genetic Services Laboratory University of Chicago
United States
116137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Muscular Dystrophy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
175
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Panel

Genetic Services Laboratory University of Chicago
United States
116137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DPM3 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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

Neuromuscular Panel

Centogene AG - the Rare Disease Company
Germany
325316
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Rhabdomyolysis and Metabolic Myopathy Panel

Invitae
United States
201128
  • D Deletion/duplication analysis

Invitae Supplemental Metabolic Newborn Screening Panel

Invitae
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 Io, 612937; CDG1O (DPM3-CDG) (DPM3 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

Congenital disorder of glycosylation, type Io, 612937; CDG1O (DPM3-CDG) (DPM3 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

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
479254
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 100

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.