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Results: 21 to 29 of 29

Tests names and labsConditionsGenes, analytes, and microbesMethods

Congenital Myasthenia (WES based NGS panel for 28 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
128
  • C Sequence analysis of the entire coding region

Myasthenic syndrome, congenital, 21, presynaptic (deletion/duplication analysis of SLC18A3 gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Myasthenic syndrome, congenital, 21, presynaptic (sequence analysis of SLC18A3 gene)

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

Neuromuscular Diseases Panel (Expanded)

Mendelics
Brazil
1288
  • 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

Congenital Hypotonia Xpanded Panel

GeneDx
United States
101423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myasthenic syndrome, congenital: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
3125
  • C Sequence analysis of the entire coding region

Congenital Contractures NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
8157
  • C Sequence analysis of the entire coding region

SLC18A3 Single Gene

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

Results: 21 to 29 of 29

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.