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Results: 1 to 20 of 39

Tests names and labsConditionsGenes and analytesMethods

Leber Congenital Amaurosis NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
2728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CEP290. NextGeneDx. Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
51
  • C Sequence analysis of the entire coding region

Leber congenital amaurosis type 11

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RPE65. Complete sequencing

Instituto de Medicina Genomica
Spain
51
  • C Sequence analysis of the entire coding region

CEP290. Complete sequencing

Instituto de Medicina Genomica
Spain
51
  • C Sequence analysis of the entire coding region

LRAT. Complete sequencing

Instituto de Medicina Genomica
Spain
51
  • C Sequence analysis of the entire coding region

GUCY2D. Detection of the mutations in 837, 838 and 839 codons by sequencing

Instituto de Medicina Genomica
Spain
51
  • T Targeted variant analysis

IMPDH1. Detection of the mutation p.Asp226Asn by sequencing

Instituto de Medicina Genomica
Spain
51
  • T Targeted variant analysis

CRB1. Complete sequencing

Instituto de Medicina Genomica
Spain
51
  • C Sequence analysis of the entire coding region

GUCY2D. Complete sequencing

Instituto de Medicina Genomica
Spain
51
  • C Sequence analysis of the entire coding region

RDH12. Complete sequencing

Instituto de Medicina Genomica
Spain
51
  • C Sequence analysis of the entire coding region

IMPDH1. Complete sequencing

Instituto de Medicina Genomica
Spain
51
  • C Sequence analysis of the entire coding region

CEP290. Complete sequencing

Instituto de Medicina Genomica
Spain
51
  • C Sequence analysis of the entire coding region

Leber Congential Amaurosis Panel (MitomeNGS)

Baylor Miraca Genetics Laboratories
United States
3219
  • C Sequence analysis of the entire coding region

IMPDH1 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
21
  • T Targeted variant analysis

IMPDH1 Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

IMPDH1 Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
21
  • D Deletion/duplication analysis

IMPDH1 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
844637
  • D Deletion/duplication analysis

Retinitis Pigmentosa via the IMPDH1 Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 39

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