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Results: 41 to 60 of 99

Tests names and labsConditionsGenes, analytes, and microbesMethods

Congenital Generalized Lipodystrophy (CGL) Panel

PreventionGenetics, part of Exact Sciences
United States
339
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Loeys-Dietz Syndrome Panel

Invitae
United States
177
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Aortopathy Comprehensive Panel

Invitae
United States
6029
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ehlers-Danlos Syndromes (EDS) Panel

PreventionGenetics, part of Exact Sciences
United States
9965
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Low Bone Mass Panel (MitomeNGS)

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

FBN1 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
81
  • T Targeted variant analysis

FBN1 Deletion/Duplication Analysis

Baylor Genetics
United States
81
  • D Deletion/duplication analysis

FBN1 Comprehensive - Sequence & Deletion/Duplication Analysis

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

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

FBN1 gene sequencing

Health in Code
Spain
71
  • C Sequence analysis of the entire coding region

FBN1 MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
81
  • D Deletion/duplication analysis

Skeletal disease dysplasia panel with abnormal mineralization. 32-gene NGS panel.

Genologica Medica
Spain
6032
  • C Sequence analysis of the entire coding region

Marfan syndrome panel. 30-gene NGS panel.

Genologica Medica
Spain
7130
  • C Sequence analysis of the entire coding region

Micromelic dysplasia panel. NGS panel of 27 genes.

Genologica Medica
Spain
8327
  • C Sequence analysis of the entire coding region

Ehlers-Danlos syndrome panel. 32-gene NGS panel.

Genologica Medica
Spain
8532
  • C Sequence analysis of the entire coding region

Aortic disease panel. 41-gene NGS panel.

Genologica Medica
Spain
9441
  • C Sequence analysis of the entire coding region

Ectopia lentis panel. 14-gene NGS panel.

Genologica Medica
Spain
2614
  • C Sequence analysis of the entire coding region

Preventive 59

Genologica Medica
Spain
17259
  • C Sequence analysis of the entire coding region

Ectopia Lentis Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
102
  • C Sequence analysis of the entire coding region

Connective Tissue Panel, Comprehensive

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
11245
  • C Sequence analysis of the entire coding region

Results: 41 to 60 of 99

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.