Clinical and research tests for C4747715 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
BICD2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290, Autosomal dominant; SMALED2 (Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures) (BICD2 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
Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290, Autosomal dominant; SMALED2 (Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures) (BICD2 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
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	480	254	C Sequence analysis of the entire coding region
Autosomal Dominant Lower Extremity-Predominant Spinal Muscular Atrophy Type 2 via the BICD2 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States	183	142	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Neuropathy Panel PreventionGenetics, part of Exact Sciences United States	82	71	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Hereditary Motor Neuropathy Panel Invitae United States	60	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neuropathies Panel Invitae United States	201	96	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Myopathy Panel PreventionGenetics, part of Exact Sciences United States	57	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Distal Hereditary Motor Neuropathy Panel PreventionGenetics, part of Exact Sciences United States	30	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
BICD2 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Predominantly distal muscular atrophy Genologica Medica Spain	43	18	C Sequence analysis of the entire coding region
Spinal muscular atrophy panel. 30-gene NGS panel. Genologica Medica Spain	65	30	C Sequence analysis of the entire coding region
Spinal muscular atrophy, lower extremity-predominant: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	3	2	C Sequence analysis of the entire coding region
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT Laboratorio de Genetica Clinica SL Spain	2	2	C Sequence analysis of the entire coding region
Hereditary Spastic Paraplegia NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	81	79	C Sequence analysis of the entire coding region
Neuromuscular Disorders NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	233	144	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.