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Results: 41 to 53 of 53

Tests names and labsConditionsGenes, analytes, and microbesMethods

FGFR1 Gene Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteoglophonic dysplasia

Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
4847
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
4847
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FGFR1 Single Gene

Fulgent Genetics
United States
51
  • 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

FGFR-Related Craniosynostosis NGS Panel

Fulgent Genetics
United States
253
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypogonadotropic Hypogonadism (HH) and Related Disorders NGS Panel

Fulgent Genetics
United States
2213
  • 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

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Kallmann Syndrome NGS Panel

Fulgent Genetics
United States
2819
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteoglophonic dysplasia

MedGene
Slovakia
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteoglophonic dysplasia

Praxis fuer Humangenetik Wien
Austria
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 41 to 53 of 53

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.