Clinical and research tests for C1836780 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 18 of 18

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Cholestasis Panel Invitae United States	210	134	D Deletion/duplication analysis
Invitae Hypoglycemia Panel Invitae United States	173	119	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Monogenic Diabetes Panel Invitae United States	59	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Monogenic Diabetes Panel PreventionGenetics, part of Exact Sciences United States	101	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypoglycemia Panel - Expanded PreventionGenetics, part of Exact Sciences United States	131	115	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pancreatic and cerebellar agenesis, 609069, Autosomal recessive; PACA (Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome) (PTF1A 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
Pancreatic and cerebellar agenesis, 609069, Autosomal recessive; PACA (Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome) (PTF1A 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
Dyslipidemia and early atherosclerosis panel. 84-gene NGS panel. Genologica Medica Spain	133	84	C Sequence analysis of the entire coding region
Comprehensive panel of monogenic diabetes. 28-gene NGS panel. Genologica Medica Spain	60	28	C Sequence analysis of the entire coding region
Gastrointestinal atresia panel. NGS panel of 13 genes. Genologica Medica Spain	19	13	C Sequence analysis of the entire coding region
Hypoglycemia, hyperinsulinism, and ketone metabolism panel. NGS panel of 50 genes. Genologica Medica Spain	73	50	C Sequence analysis of the entire coding region
Permanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes Reference Laboratory Genetics Spain	12	16	C Sequence analysis of the entire coding region
Hereditary Ataxia Asper Biogene Asper Biogene LLC Estonia	180	139	C Sequence analysis of the entire coding region
PTF1A Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MODY Neonatal Diabetes NGS Panel Fulgent Genetics United States	56	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Diabetes-Obesity NGS Panel Fulgent Genetics United States	73	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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