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Results: 1 to 20 of 27

Tests names and labsConditionsGenes, analytes, and microbesMethods

NBIA Panel

Genetic Services Laboratory University of Chicago
United States
913
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

CentoVision Panel

Centogene AG - the Rare Disease Company
Germany
417413
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoSkin Panel

Centogene AG - the Rare Disease Company
Germany
157151
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Albinism, oculocutaneous, type VII, 615179, Autosomal recessive; OCA7 (Oculocutaneous albinism type 7) (C10orf11 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

Hypopigmentation Panel

PreventionGenetics, part of Exact Sciences
United States
3933
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Epilepsy Panel

Invitae
United States
466297
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Oculocutaneous Albinism Type 7 (OCAVII) via the LRMDA (C10orf11) Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Oculocutaneous Albinism (OCA) Panel

PreventionGenetics, part of Exact Sciences
United States
1815
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Albinism oculocutaneous type VII (sequence analysis of C10orf11 gene)

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

Early Infantile Epileptic Encephalopathy NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
11486
  • C Sequence analysis of the entire coding region

Oculocutaneous albinism: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
76
  • C Sequence analysis of the entire coding region

Oculocutaneous Albinism , Panel Massive Sequencing (NGS) 7 Genes

Reference Laboratory Genetics
Spain
77
  • C Sequence analysis of the entire coding region

Albinism , Panel Massive Sequencing (NGS) 12 Genes

Reference Laboratory Genetics
Spain
1312
  • C Sequence analysis of the entire coding region

Ocular Albinism & Hermansky-Pudlak Syndrome NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
1718
  • C Sequence analysis of the entire coding region

Single gene testing C10orf11

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Epilepsy/Seizure NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
158165
  • C Sequence analysis of the entire coding region

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing

NBIA Testing Center Oregon Health & Science University
United States
519
  • C Sequence analysis of the entire coding region

Albinism Panel

CeGaT GmbH
Germany
99
  • C Sequence analysis of the entire coding region

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel

CeGaT GmbH
Germany
313
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 27

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.