Clinical and research tests for C1858517 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 44

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Spinal muscular atrophy panel. 30-gene NGS panel. Genologica Medica Spain	65	30	C Sequence analysis of the entire coding region
Carrier detection for spinal muscular atrophy by MLPA Diagnostics Division CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS India	1	1	D Deletion/duplication analysis
Prenatal diagnosis for Spinal Muscular Atrophy (known mutation) including maternal cell contamination Diagnostics Division CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS India	1	1	D Deletion/duplication analysis
Charcot-Marie-Tooth Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	85	30	C Sequence analysis of the entire coding region
Neuromuscular Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	138	62	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth Hereditary Neuropathy NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	76	54	C Sequence analysis of the entire coding region
Spinal Muscular Atrophy NGS Panel Fulgent Genetics United States	93	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Paroxysmal Extreme Pain Disorder NGS Panel Fulgent Genetics United States	185	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Spinal Muscular Atrophy With Respiratory Distress Type 1 (IGHMBP2 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 Laboratorio de Genetica Clinica SL Spain	1	1	D Deletion/duplication analysis 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
Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation Athena Diagnostics United States	10	10	C Sequence analysis of the entire coding region
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	34	78	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Spinal Muscular Atrophy (SMA) Panel CeGaT GmbH Germany	44	27	C Sequence analysis of the entire coding region
Spinal Muscular Atrophy Panel CeGaT GmbH Germany	11	27	C Sequence analysis of the entire coding region
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel CeGaT GmbH Germany	147	143	C Sequence analysis of the entire coding region
SMA with Respiratory Distress ( SMARD1) Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital India	1	1	C Sequence analysis of the entire coding region
IGHMBP2 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot Marie Tooth Disease Extended NGS Panel Fulgent Genetics United States	172	59	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 44

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.