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Results: 81 to 90 of 90

Tests names and labsConditionsGenes, analytes, and microbesMethods

Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel

CeGaT GmbH
Germany
1920
  • C Sequence analysis of the entire coding region

CAKUT

Hildebrandt Laboratory Boston Children's Hospital
United States
2204
  • C Sequence analysis of the entire coding region

Congenital Myasthenic Syndromes and Arthrogryposis Panel

CeGaT GmbH
Germany
944
  • C Sequence analysis of the entire coding region

Muscle Weakness (Myopathy, Muscular Dystrophy)

MGZ Medical Genetics Center
Germany
6179
  • C Sequence analysis of the entire coding region

Muscle Disease with Ptosis / External Ophthalmoplegia

MGZ Medical Genetics Center
Germany
326
  • C Sequence analysis of the entire coding region

Congenital Myasthenic Syndrome (CMS)

MGZ Medical Genetics Center
Germany
117
  • C Sequence analysis of the entire coding region

LRP4 Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • 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

Skeletal Dysplasias NGS Panel

Fulgent Genetics
United States
543178
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 81 to 90 of 90

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.