Clinical and research tests for ADAMTS17 - Genetic Testing Registry (GTR)

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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
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
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
Invitae Connective Tissue Disorders Panel Invitae United States	195	92	D Deletion/duplication analysis
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 Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Invitae Limb and Digital Malformations Panel Invitae 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
Glaucoma Panel CGC Genetics Unilabs Portugal	1	26	C Sequence analysis of the entire coding region
Congenital Heart Defects Panel CGC Genetics Unilabs Portugal	1	208	C Sequence analysis of the entire coding region
Ehlers-Danlos and Marfan Syndromes Panel CGC Genetics Unilabs Portugal	1	85	C Sequence analysis of the entire coding region
Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal	1	606	C Sequence analysis of the entire coding region
GLAUCOMA EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	50	E Sequence analysis of select exons
SKELETAL DYSPLASIAS PANEL Laboratorio de Genetica Clinica SL Spain	1	643	E Sequence analysis of select exons
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

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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 20 of 41

Results: 1 to 20 of 41