Clinical and research tests for C3281203 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Solid Tumor Panel Centogene AG - the Rare Disease Company Germany	218	135	C Sequence analysis of the entire coding region
ATR - 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 Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel Invitae United States	48	38	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Cutaneous telangiectasia and cancer syndrome, familial, 614564, Autosomal dominant; FCTCS (Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome) (ATR 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
Cutaneous telangiectasia and cancer syndrome, familial, 614564, Autosomal dominant; FCTCS (Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Seckel Syndrome, Primary Microcephaly and Familial Cutaneous Telangiectasia and Cancer Syndrome via the ATR Gene PreventionGenetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Limb malformation panel. NGS panel of 45 genes. Genologica Medica Spain	77	45	C Sequence analysis of the entire coding region
Bone marrow failure syndrome panel. NGS panel of 122 genes. Genologica Medica Spain	194	122	C Sequence analysis of the entire coding region
Microcephaly and cerebellar hypoplasia panel. 48-gene NGS panel. Genologica Medica Spain	63	48	C Sequence analysis of the entire coding region
Fanconi anemia panel Genologica Medica Spain	35	22	C Sequence analysis of the entire coding region
Seckel syndrome panel. 6-gene NGS panel. Genologica Medica Spain	10	6	C Sequence analysis of the entire coding region
3M syndrome / primordial dwarfism panel. NGS panel of 24 genes. Genologica Medica Spain	33	24	C Sequence analysis of the entire coding region
Cutaneous telangiectasia and cancer syndrome, familial: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
ATR Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	2	1	D Deletion/duplication analysis
3-M Syndrome NGS Panel Fulgent Genetics United States	21	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia-Telangiectasia, Panel Massive Sequencing (NGS) ATM, ATR, MRE11A Genes Reference Laboratory Genetics Spain	3	3	C Sequence analysis of the entire coding region
Full Comprehensive Cancer Panel Fulgent Genetics United States	329	127	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microcephaly, primary, autosomal recessive and Seckel syndrome spectrum disorders GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spain	9	13	C Sequence analysis of the entire coding region

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