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Results: 1 to 20 of 36

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

Acromicric dysplasia (ACMICD) - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

Marfan Syndrome, FBN1 Seq, Del/Dup

ARUP Laboratories, Molecular Genetics University of Utah ARUP Lab
United States
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Marfan Syndrome (FBN1) Sequencing

ARUP Laboratories, Molecular Genetics University of Utah ARUP Lab
United States
81
  • C Sequence analysis of the entire coding region

Aortic diseases Panel

Health in Code S.L.
Spain
7235
  • C Sequence analysis of the entire coding region

Aortic Valvular Diseases Panel

Health in Code S.L.
Spain
6130
  • C Sequence analysis of the entire coding region

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15391578
  • C Sequence analysis of the entire coding region

Low Bone Mass Panel (MitomeNGS)

Baylor Miraca Genetics Laboratories
United States
3922
  • C Sequence analysis of the entire coding region

FBN1 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
81
  • T Targeted variant analysis

FBN1 Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
81
  • D Deletion/duplication analysis

FBN1 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

Marfan Syndrome, FBN1 Del/Dup

ARUP Laboratories, Molecular Genetics University of Utah ARUP Lab
United States
81
  • D Deletion/duplication analysis

AORTOPATHIES, FAMILIAL

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
209
  • C Sequence analysis of the entire coding region

FBN1 Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
81
  • C Sequence analysis of the entire coding region

Acromicric dysplasia (sequence analysis of FBN1 gene)

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

Marfan Syndrome NGS Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
123
  • C Sequence analysis of the entire coding region

Familial Thoracic Aortic Aneurysm NGS Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
2210
  • C Sequence analysis of the entire coding region

FBN1

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 36

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.