Clinical and research tests for C0152109 - Genetic Testing Registry (GTR)

Page 2 of 3

Results: 21 to 40 of 41

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Comprehensive Neuropathies Panel Labcorp Genetics (formerly Invitae) LabCorp United States	223	106	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neuromuscular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	353	208	D Deletion/duplication analysis
SMN1 Deletion Analysis Baylor Genetics United States	4	1	D Deletion/duplication analysis
Spinal muscular atrophy panel. 30-gene NGS panel. Genologica Medica Spain	65	30	C Sequence analysis of the entire coding region
SMN1 & SMN2 Copy Number Analysis Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	4	2	D Deletion/duplication analysis
Common Carrier Screening Panel HNL Genomics Connective Tissue Gene Tests United States	18	18	C Sequence analysis of the entire coding region T Targeted variant analysis
Spinal Muscular Atrophy Carrier Screening HNL Genomics Connective Tissue Gene Tests United States	2	2	C Sequence analysis of the entire coding region
Super Panel Plus NxGen MDx United States	116	117	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Custom JHP NxGen MDx United States	8	7	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Universal Panel Plus NxGen MDx United States	21	22	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Ashkenazi Jewish Panel NxGen MDx United States	20	21	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Super Panel 113 NxGen MDx United States	113	115	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Spinal muscular atrophy, autosomal-recessive Labor Dr. Wisplinghoff Germany	4	1	D Deletion/duplication analysis
Spinal muscular atrophy 1 MVZ Dr. Eberhard & Partner Dortmund Germany	4	1	D Deletion/duplication analysis
Spinal muscular atrophy 1 MVZ Dr. Eberhard & Partner Dortmund Germany	4	1	D Deletion/duplication analysis
Spinal Muscular Atrophy Diagnostic Test Athena Diagnostics United States	4	2	D Deletion/duplication analysis
SMN DNA Sequencing Test Athena Diagnostics United States	4	2	C Sequence analysis of the entire coding region
SMA Plus (Reflexive) Athena Diagnostics United States	4	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Spinal Muscular Atrophy Carrier Test Athena Diagnostics United States	4	2	D Deletion/duplication analysis T Targeted variant analysis
Spinal Muscular Atrophy (SMN1) Molecular Diagnostics Lab Nemours Children's Health, Delaware United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

<< First < Prev

Page 2 of 3

Next >Last >>

Results: 21 to 40 of 41

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.

Filters

Test type

Test purpose

Test method

Molecular Genetics

Test service

Laboratory certification

Specimen type

Laboratory location

Other countries

Results: 21 to 40 of 41

Results: 21 to 40 of 41