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Results: 41 to 58 of 58

Tests names and labsConditionsGenes, analytes, and microbesMethods

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Congenital Hypotonia Xpanded Panel

GeneDx
United States
101423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Comprehensive Skeletal Dysplasias and Disorders Panel

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

Skeletal Dysplasias Core Panel

Blueprint Genetics
Finland
1111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

LARSEN SYNDROME (AUTOSOMAL RECESSIVE)

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel

Blueprint Genetics
Finland
228
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel

CeGaT GmbH
Germany
2727
  • C Sequence analysis of the entire coding region

Spondyloepiphyseal dysplasia with congenital joint dislocations

Bioarray
Spain
11
  • M Methylation analysis

CHST3 Single Gene

Fulgent Genetics
United States
21
  • 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

Skeletal Dysplasia

Asper Biogene Asper Biogene LLC
Estonia
16674
  • 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

Spondyloepiphyseal dysplasia with congenital joint dislocation

MedGene
Slovakia
11
  • C Sequence analysis of the entire coding region

Spondyloepiphyseal dysplasia with congenital joint dislocation

Praxis fuer Humangenetik Wien
Austria
11
  • C Sequence analysis of the entire coding region

Results: 41 to 58 of 58

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.