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Results: 21 to 40 of 40

Tests names and labsConditionsGenes, analytes, and microbesMethods

Bone diseases panel_v.2.0

CGC Genetics Unilabs
Portugal
1662
  • C Sequence analysis of the entire coding region

Frank-ter Haar syndrome (sequence analysis of SH3PXD2B gene)

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

Skeletal Diseases Panel

Mendelics
Brazil
1333
  • C Sequence analysis of the entire coding region

GLAUCOMA EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
150
  • E Sequence analysis of select exons

CRANIOSYNOSTOSIS PANEL

Laboratorio de Genetica Clinica SL
Spain
185
  • E Sequence analysis of select exons

SKELETAL DYSPLASIAS PANEL

Laboratorio de Genetica Clinica SL
Spain
1643
  • E Sequence analysis of select exons

Comprehensive Eye panel

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
1695
  • C Sequence analysis of the entire coding region

Early Onset Glaucoma Gene Sequencing Panel

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
137
  • E Sequence analysis of select exons

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NewbornDx Advanced Sequencing Evaluation

Athena Diagnostics
United States
11722
  • C Sequence analysis of the entire coding region

Craniosynostosis NGS Panel

Fulgent Genetics
United States
33961
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel

Blueprint Genetics
Finland
2308
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Optic Atrophy & Early Glaucoma NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
4034
  • C Sequence analysis of the entire coding region

Comprehensive Skeletal Dysplasias and Disorders Panel

Blueprint Genetics
Finland
1246
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Selected Genetic Syndromes with skeletal involvement Panel

CeGaT GmbH
Germany
3642
  • C Sequence analysis of the entire coding region

SH3PXD2B Single Gene

Fulgent Genetics
United States
11
  • 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

Glaucoma NGS Panel

Fulgent Genetics
United States
6826
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Eye Disorders NGS Panel

Fulgent Genetics
United States
1018459
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 40

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.