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Results: 1 to 20 of 121

Tests names and labsConditionsGenes, analytes, and microbesMethods

FGFR3 gene Sequencing

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
61
  • C Sequence analysis of the entire coding region

Achondroplasia

Center for Genetics at Saint Francis Saint Francis Hospital
United States
21
  • E Sequence analysis of select exons

Achondroplasia

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
11
  • T Targeted variant analysis

Achondroplasia

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
11
  • X Mutation scanning of select exons
  • T Targeted variant analysis

Achondroplasia (FGFR3 gene)

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
11
  • T Targeted variant analysis

FGFR3 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Early-Onset High Myopia Panel

PreventionGenetics, Part of Exact Sciences
United States
285137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Deafness Panel

Invitae
United States
405219
  • D Deletion/duplication analysis

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Invitae Limb and Digital Malformations Panel

Invitae
United States
356177
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Non-Immune Hydrops Fetalis Panel

PreventionGenetics, Part of Exact Sciences
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Polydactyly and Syndactyly Panel

PreventionGenetics, Part of Exact Sciences
United States
320231
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Syndactyly Panel

PreventionGenetics, Part of Exact Sciences
United States
220128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SkeletalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
6423
  • C Sequence analysis of the entire coding region

CraniofacialZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
11045
  • C Sequence analysis of the entire coding region

Cleft Lip/Cleft Palate Panel

PreventionGenetics, Part of Exact Sciences
United States
177163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Hearing Loss and Deafness Panel

PreventionGenetics, Part of Exact Sciences
United States
360222
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Overgrowth and Macrocephaly Syndromes Panel

PreventionGenetics, Part of Exact Sciences
United States
15088
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypospadias Panel

PreventionGenetics, Part of Exact Sciences
United States
15673
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
5253
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 121

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.