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Results: 1 to 20 of 24

Tests names and labsConditionsGenes and analytesMethods

Osteopetrosis and Dense bone dysplasia Comprehensive panel

Connective Tissue Gene Tests
United States
3128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis and Dense bone dysplasia NGS panel

Connective Tissue Gene Tests
United States
3128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel

Connective Tissue Gene Tests
United States
3128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dense bone dysplasia Deletion / Duplication panel

Connective Tissue Gene Tests
United States
414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dense bone dysplasia Comprehensive panel

Connective Tissue Gene Tests
United States
414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dense bone dysplasia NGS panel

Connective Tissue Gene Tests
United States
414
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection

PreventionGenetics
United States
327258
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

Hearing Loss Advanced Sequencing and CNV Evaluation

Athena Diagnostics Inc
United States
251184
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Craniometaphyseal Dysplasia, Panel Massive Sequencing (NGS) ANKH, GJA1 Genes

Reference Laboratory Genetics
Spain
22
  • C Sequence analysis of the entire coding region

Disproportionate Short Stature: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
19876
  • C Sequence analysis of the entire coding region

Craniometaphyseal Dysplasia , Sequencing Exons (9,10) ANKH Gene

Reference Laboratory Genetics
Spain
11
  • E Sequence analysis of select exons

Craniometaphyseal Dysplasia , Sequencing ANKH Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Skeletal dysplasia with increased bone density Panel

CeGaT GmbH
Germany
2628
  • C Sequence analysis of the entire coding region

Craniometaphyseal dysplasia (sequence analysis of ANKH gene)

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

Syndromic and non syndromic deafness (NGS panel for 127 genes)

CGC Genetics
Portugal
118127
  • C Sequence analysis of the entire coding region

Syndromic deafness (NGS panel for 62 genes)

CGC Genetics
Portugal
5662
  • C Sequence analysis of the entire coding region

ANKH

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
370161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
364163
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 24

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.

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