Clinical and research tests for C1857829 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Arrythmogenic Cardiomyopathy Panel Health in Code Spain	53	17	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
Invitae eMERGE Panel Invitae United States	59	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Infertility Panel Centogene AG - the Rare Disease Company Germany	243	238	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
LMNA - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	11	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
Diabetes and Obesity Panel Centogene AG - the Rare Disease Company Germany	247	262	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
CentoCardio Panel Centogene AG - the Rare Disease Company Germany	289	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae eMERGE Panel Invitae United States	59	16	D Deletion/duplication analysis
Invitae Hypogonadotropic Hypogonadism Panel Invitae United States	67	46	D Deletion/duplication analysis
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	346	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
LowBoneDensityZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	110	50	C Sequence analysis of the entire coding region
Heart-hand syndrome, Slovenian type, 610140, Autosomal dominant (Heart-hand syndrome, Slovenian type) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Heart-hand syndrome, Slovenian type, 610140, Autosomal dominant (Heart-hand syndrome, Slovenian type) (LMNA 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
Heart-hand syndrome, Slovenian type, 610140, Autosomal dominant (Heart-hand syndrome, Slovenian type) (LMNA 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

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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.