Clinical and research tests for C0270968 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Neuromuscular Disorders exome Genetic Services Laboratory University of Chicago United States	116	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA) BloodGenetics Spain	39	33	C Sequence analysis of the entire coding region
Neuromuscular Disorders Panel Genetic Services Laboratory University of Chicago United States	116	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
TRIM32 - 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 Rhabdomyolysis and Metabolic Myopathy Panel Invitae United States	202	128	D Deletion/duplication analysis
Invitae Monogenic Obesity Panel Invitae United States	92	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Neonatal Respiratory Distress Panel Invitae United States	163	111	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Limb and Digital Malformations Panel Invitae United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Limb girdle muscular dystrophy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	50	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Limb girdle muscular dystrophy NGS panel HNL Genomics Connective Tissue Gene Tests United States	50	35	C Sequence analysis of the entire coding region T Targeted variant analysis
Limb girdle muscular dystrophy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	50	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Muscular dystrophy, limb-girdle, type 2H, 254110, Autosomal recessive; LGMD2H (Autosomal recessive limb-girdle muscular dystrophy type 2H) (TRIM32 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
Invitae Inherited Retinal Disorders Panel Invitae United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Progressive Renal Disease Panel Invitae United States	310	195	D Deletion/duplication analysis
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	342	268	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.