Clinical and research tests for 101000 - Genetic Testing Registry (GTR)

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Results: 41 to 60 of 170

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Neurofibromatosis and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Complex Hereditary Spastic Paraplegia Panel PreventionGenetics, part of Exact Sciences United States	72	87	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Spastic Paraplegia Comprehensive Panel PreventionGenetics, part of Exact Sciences United States	87	106	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Troyer syndrome, 275900, Autosomal recessive; SPG20 (Autosomal recessive spastic paraplegia type 20) (SPG20 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
Known Mutation Testing- NGS UAB Medical Genomics Laboratory UAB Medicine United States	9	1	E Sequence analysis of select exons
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	480	254	C Sequence analysis of the entire coding region
qChip 180 Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
Invitae Genetic Health Screen Labcorp Genetics (formerly Invitae) LabCorp United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cancer Screen Labcorp Genetics (formerly Invitae) LabCorp United States	160	62	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae 78 Gene Actionable Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	220	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Labcorp Genetics (formerly Invitae) LabCorp United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Variant Resolution Test for CustomNext-Cancer® (+RNAinsight®) Ambry Genetics United States	146	18	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for BrainTumorNext® (+RNAinsight®) Ambry Genetics United States	71	8	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for CancerNext-Expanded® (+RNAinsight®) Ambry Genetics United States	95	71	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Pediatric Cancer Panel PreventionGenetics, part of Exact Sciences United States	77	64	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics, part of Exact Sciences United States	202	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
NF2 gene sequence and deletion/duplication Ambry Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CustomNext-Cancer® Ambry Genetics United States	146	91	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CancerNext-Expanded® Ambry Genetics United States	121	71	D Deletion/duplication analysis C Sequence analysis of the entire coding region
BrainTumorNext® Ambry Genetics United States	71	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 41 to 60 of 170

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: 41 to 60 of 170

Results: 41 to 60 of 170