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Results: 1 to 16 of 16

Tests names and labsConditionsGenes, analytes, and microbesMethods

Amelogenesis imperfecta and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
116
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Amelogenesis imperfecta and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
116
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Amelogenesis imperfecta and related disorders Deletion/ Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
116
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400, Autosomal recessive; DTDP1 (Dentin dysplasia) (SMOC2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Amelogenesis imperfecta and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
116
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Amelogenesis imperfecta and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
116
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Amelogenesis imperfecta and related disorders Deletion/ Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
116
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Amelogenesis and Dentinogenesis Imperfecta Panel

PreventionGenetics, part of Exact Sciences
United States
2834
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Ectodermal Dysplasia and Related Disorders Panel

Invitae
United States
14873
  • D Deletion/duplication analysis

ECTODERMAL DYSPLASIA EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1110
  • E Sequence analysis of select exons

Amelogenesis

Bioarray
Spain
1172
  • C Sequence analysis of the entire coding region

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

Mental retardation - different panels

Institute of Human Genetics Cologne University
Germany
72536
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qGenEx Craniofacial Anomalies

Quantitative Genomic Medicine Laboratories, SL
Spain
135136
  • C Sequence analysis of the entire coding region

SMOC2 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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.