Clinical and research tests for C0013581 - Genetic Testing Registry (GTR)

Results: 1 to 15 of 15

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Comprehensive Aortopathy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	54	48	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lipodystrophy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	23	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Marfan and Related Conditions Panel Mayo Clinic Laboratories Mayo Clinic United States	37	30	D Deletion/duplication analysis S Mutation scanning of the entire coding region
FBN1 Full Gene Analysis Mayo Clinic Laboratories Mayo Clinic United States	8	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ectopia lentis NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Ectopia lentis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ectopia lentis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ectopia lentis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ectopia lentis NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Ectopia lentis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ectopia Lentis NGS Panel Fulgent Genetics United States	49	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ECTOPIA LENTIS Laboratorio de Genetica Clinica SL Spain	1	2	C Sequence analysis of the entire coding region
Ectopia Lentis Panel Blueprint Genetics Finland	1	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ASPH Single Gene Fulgent Genetics United States	10	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NGS panel - Ectopia lentis and/or Weill-Marchesani syndrome Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	5	7	D Deletion/duplication analysis S Mutation scanning of the entire coding region T Targeted variant analysis

Results: 1 to 15 of 15

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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Results: 1 to 15 of 15

Results: 1 to 15 of 15