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Results: 61 to 80 of 86

Tests names and labsConditionsGenes, analytes, and microbesMethods

Czech Dysplasia (COL2A1 Single Gene Test)

Fulgent Genetics
United States
141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinopathy and Optic Atrophy NGS Panel

Fulgent Genetics
United States
563241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cleft Palate/Lip NGS Panel

Fulgent Genetics
United States
12723
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Kniest Dysplasia (COL2A1 Single Gene Test)

Fulgent Genetics
United States
141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Legg-Calvé-Perthes Disease (COL2A1 Single Gene Test)

Fulgent Genetics
United States
141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypochondrogenesis (COL2A1 Single Gene Test)

Fulgent Genetics
United States
141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Platyspondylic Lethal Skeletal Dysplasia, Torrance Type (COL2A1 Single Gene Test)

Fulgent Genetics
United States
141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Vitreoretinopathy

Asper Biogene Asper Biogene LLC
Estonia
5520
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes

Reference Laboratory Genetics
Spain
7236
  • C Sequence analysis of the entire coding region

Potentially lethal skeletal disorders Panel

CeGaT GmbH
Germany
4544
  • C Sequence analysis of the entire coding region

Single gene testing COL2A1

CeGaT GmbH
Germany
141
  • 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

COL2A1 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
181
  • E Sequence analysis of select exons

COL2A1 screening

Connective Tissue Laboratory Ghent University Hospital
Belgium
121
  • C Sequence analysis of the entire coding region

COL2A1 Single Gene

Fulgent Genetics
United States
141
  • 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

Multiple Epiphyseal Dysplasia NGS Panel

Fulgent Genetics
United States
307
  • 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

Stickler Syndrome NGS Panel

Fulgent Genetics
United States
265
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 61 to 80 of 86

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.