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Results: 21 to 40 of 46

Tests names and labsConditionsGenes, analytes, and microbesMethods

Muscular dystrophies

Institute of Human Genetics Cologne University
Germany
179
  • C Sequence analysis of the entire coding region

Recessive dystroglycanopathies

Institute of Human Genetics Cologne University
Germany
313
  • C Sequence analysis of the entire coding region

CAPN3 Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuronal Migration Disorders NGS Panel

Fulgent Genetics
United States
39283
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cerebral Cortical Malformation NGS Panel

Fulgent Genetics
United States
21042
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D (AUTOSOMAL DOMINANT) (DESMIN DEFICIENCY)

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

LGMD and Congenital Muscular Dystrophy Panel

Blueprint Genetics
Finland
242
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Limb-Girdle Muscular Dystrophy

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
234
  • M Methylation analysis
  • C Sequence analysis of the entire coding region

Comprehensive Neuromuscular Panel

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
679
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RNF123 Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TNPO3 Single Gene

Fulgent Genetics
United States
161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TRAPPC11 Single Gene

Fulgent Genetics
United States
181
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HNRNPA1 Single Gene

Fulgent Genetics
United States
131
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GMPPB Single Gene

Fulgent Genetics
United States
491
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Limb-Girdle Muscular Dystrophies Panel

CeGaT GmbH
Germany
2834
  • C Sequence analysis of the entire coding region

Congenital Myasthenic Syndrome NGS Panel

Fulgent Genetics
United States
10528
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SGCD

MGZ Medical Genetics Center
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SGCA

MGZ Medical Genetics Center
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SGCB

MGZ Medical Genetics Center
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 46

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.