Clinical and research tests for C2750787 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Results: 1 to 17 of 17

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Limb and Digital Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Weill-Marchesani-like syndrome, 613195, Autosomal recessive (Ichthyosis-short stature-brachydactyly-microspherophakia syndrome) (ADAMTS17 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Weill-Marchesani-like syndrome, 613195, Autosomal recessive (Ichthyosis-short stature-brachydactyly-microspherophakia syndrome) (ADAMTS17 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Weill-Marchesani syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	4	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Weill-Marchesani syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	4	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Weill-Marchesani syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	4	4	C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital structural heart disease panel. NGS panel of 62 genes. Genologica Medica Spain	113	62	C Sequence analysis of the entire coding region
Marfan syndrome panel. 30-gene NGS panel. Genologica Medica Spain	71	30	C Sequence analysis of the entire coding region
Aortic disease panel. 41-gene NGS panel. Genologica Medica Spain	94	41	C Sequence analysis of the entire coding region
Ectopia lentis panel. 14-gene NGS panel. Genologica Medica Spain	26	14	C Sequence analysis of the entire coding region
Ectopia Lentis NGS Panel Fulgent Genetics United States	49	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Weill-Marchesani Syndrome: gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	4	4	C Sequence analysis of the entire coding region
ADAMTS17 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Weill-Marchesani-Like Syndrome MGZ Medical Genetics Center Germany	1	1	C Sequence analysis of the entire coding region

Results: 1 to 17 of 17

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.