Clinical and research tests for 268200 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Myoglobinuria, acute recurrent, autosomal recessive, 268200, Autosomal recessive (Genetic recurrent myoglobinuria) (LPIN1 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
Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LPIN1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Panel Centogene AG - the Rare Disease Company Germany	325	316	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	202	128	D Deletion/duplication analysis
Invitae Progressive Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	310	195	D Deletion/duplication analysis
LPIN1 - Acute Recurrent Myoglobinuria Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
Disorders of Fatty Acid Oxidation (FAOD) Panel PreventionGenetics, part of Exact Sciences United States	32	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Glycogen Storage Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	37	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States	239	158	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	376	266	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Neuromuscular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	353	208	D Deletion/duplication analysis
Fatty Acid Oxidation Panel (MitomeNGS) Baylor Genetics United States	16	17	C Sequence analysis of the entire coding region
LPIN1 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	1	1	T Targeted variant analysis
LPIN1 Deletion/Duplication Analysis Baylor Genetics United States	1	1	D Deletion/duplication analysis
LPIN1 Sequence Analysis Baylor Genetics United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
LPIN1 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	1	1	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.