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Results: 41 to 60 of 89

Tests names and labsConditionsGenes, analytes, and microbesMethods

Achondroplasia Mutation Panel

Baylor Genetics
United States
121
  • S Mutation scanning of the entire coding region

FGFR2-Related Disorders via the FGFR2 Gene

PreventionGenetics, part of Exact Sciences
United States
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

LADD syndrome (sequence analysis of FGF10 gene)

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

Limb malformation panel. NGS panel of 45 genes.

Genologica Medica
Spain
7745
  • C Sequence analysis of the entire coding region

Periventricular heterotopia panel

Genologica Medica
Spain
5220
  • C Sequence analysis of the entire coding region

Achondroplasia

Genologica Medica
Spain
141
  • C Sequence analysis of the entire coding region

Craniosynostosis panel. NGS panel of 37 genes.

Genologica Medica
Spain
11337
  • C Sequence analysis of the entire coding region

Central skeletal dysplasias panel. NGS panel of 111 genes.

Genologica Medica
Spain
258111
  • C Sequence analysis of the entire coding region

Micromelic dysplasia panel. NGS panel of 27 genes.

Genologica Medica
Spain
8327
  • C Sequence analysis of the entire coding region

Metaphyseal dysplasia panel. NGS panel of 11 genes.

Genologica Medica
Spain
4211
  • C Sequence analysis of the entire coding region

Skeletal diseases. NGS panel of 169 genes.

Genologica Medica
Spain
373169
  • C Sequence analysis of the entire coding region

Achondroplasia

Genologica Medica
Spain
141
  • C Sequence analysis of the entire coding region

FGFR2 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
91
  • D Deletion/duplication analysis

Custom XomeDx Slice – Differences of Sex Development (Proband Only)

GeneDx
United States
21112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Limb Abnormalities and Reduction Defects Panel

GeneDx
United States
2476
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lacrimoauriculodentodigital syndrome (LADD)

Institute of Human Genetics Cologne University
Germany
23
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Achondroplasia (FGFR3 Single Gene Test)

Fulgent Genetics
United States
121
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Muenke Syndrome (FGFR3 Single Gene Test)

Fulgent Genetics
United States
121
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neonatal Epilepsy NGS Panel

Fulgent Genetics
United States
509275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Micromelic Dysplasia NGS Panel

Fulgent Genetics
United States
14024
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 41 to 60 of 89

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.