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Results: 1 to 20 of 33

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
342268
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

ExomePLUS Cystic Disease & Dysplasia/Agenesis

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
2122
  • C Sequence analysis of the entire coding region

CEP290 Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
51
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CEP290 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CEP290 Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
51
  • D Deletion/duplication analysis

CEP290 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
51
  • T Targeted variant analysis

Bardet-Biedl Syndrome Sequencing Panel

PreventionGenetics
United States
2020
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bardet-Biedl Syndrome , Panel Massive Sequencing (NGS) 18 Genes

Reference Laboratory Genetics
Spain
1618
  • C Sequence analysis of the entire coding region

Bardet-Biedl Syndrome Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
2426
  • C Sequence analysis of the entire coding region

BARDET-BIEDL SYNDROME

Laboratorio de Genetica Clinica SL
Spain
1214
  • C Sequence analysis of the entire coding region

BARDET-BIEDL SYNDROME (NGS)

Laboratorio de Genetica Clinica SL
Spain
1720
  • C Sequence analysis of the entire coding region

Eye diseases comprehensive panel

Asper Biogene Asper Biogene LLC
Estonia
351275
  • C Sequence analysis of the entire coding region

Senior-Loken Syndrome panel

Molecular Vision Laboratory
United States
104
  • C Sequence analysis of the entire coding region

Joubert Syndrome Panel

Molecular Vision Laboratory
United States
5025
  • C Sequence analysis of the entire coding region

CEP290

Institute for Human Genetics University Clinic Freiburg
Germany
51
  • C Sequence analysis of the entire coding region

Bardet-Biedl syndrome

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1918
  • C Sequence analysis of the entire coding region

Invitae Congenital Heart Defects and Heterotaxy Panel

Invitae
United States
12882
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 33

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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