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Results: 1 to 15 of 15

Tests names and labsConditionsGenes, analytes, and microbesMethods

DSPP - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Deafness Panel

Invitae
United States
405219
  • D Deletion/duplication 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

Dentinogenesis Imperfecta (DGI) and Dentin Dysplasia (DD) via the DSPP Gene

PreventionGenetics, part of Exact Sciences
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Hearing Loss NGS Panel

Fulgent Genetics
United States
332167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nonsyndromic Hearing Loss NGS Panel

Fulgent Genetics
United States
14699
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dentinogenesis Imperfecta (DSPP Single Gene Test)

Fulgent Genetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypophosphatemic Rickets NGS Panel

Fulgent Genetics
United States
3110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Abnormal Mineralization NGS Panel

Fulgent Genetics
United States
7730
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KL Single Gene

Fulgent Genetics
United States
131
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GALNT3 Single Gene

Fulgent Genetics
United States
141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DSPP Single Gene

Fulgent Genetics
United States
41
  • 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
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Amelogenesis Imperfecta NGS Panel

Fulgent Genetics
United States
7531
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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.