Clinical and research tests for C0699743 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Neurodegenerative Disorders Panel CGC Genetics Unilabs Portugal	15	392	C Sequence analysis of the entire coding region
Prenatal diagnosis for Duchenne Muscular dystrophy (known mutation) including maternal cell contamination Diagnostics Division CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS India	1	1	D Deletion/duplication analysis
Muscular dystrophies Institute of Human Genetics Cologne University Germany	17	9	C Sequence analysis of the entire coding region
Tyrosinemia NGS Panel Fulgent Genetics United States	5	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Myopathy NGS Panel Fulgent Genetics United States	186	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuronal Migration Disorders NGS Panel Fulgent Genetics United States	392	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cerebral Cortical Malformation NGS Panel Fulgent Genetics United States	210	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LGMD and Congenital Muscular Dystrophy Panel Blueprint Genetics Finland	2	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Neuromuscular Panel Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	6	79	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RNF123 Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
POMK Single Gene Fulgent Genetics United States	56	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GSTZ1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
B4GAT1 Single Gene Fulgent Genetics United States	45	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
BRMS1 Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
COL12A1 Single Gene Fulgent Genetics United States	17	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GMPPB Single Gene Fulgent Genetics United States	49	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Muscular Dystrophies Panel CeGaT GmbH Germany	37	32	C Sequence analysis of the entire coding region
LMNA-related Muscular dystrophy Institute of Human Genetics Cologne University Germany	1	1	C Sequence analysis of the entire coding region
Ehlers-Danlos Syndrome NGS Panel Fulgent Genetics United States	97	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Type VI Collagenopathy NGS Panel Fulgent Genetics United States	20	4	D Deletion/duplication analysis 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.