Clinical and research tests for C0268328 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Aminolevulinic Acid, U Mayo Clinic Laboratories Mayo Clinic United States	5	1	A Analyte
ALA Dehydratase, RBC Mayo Clinic Laboratories Mayo Clinic United States	1	1	A Analyte
ALA Dehydratase, WB Mayo Clinic Laboratories Mayo Clinic United States	1	1	A Analyte
CentoMetabolic MOx Centogene AG - the Rare Disease Company Germany	195	221	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
ALAD - 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
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
CentoSkin Panel Centogene AG - the Rare Disease Company Germany	157	151	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Porphyrias Panel Invitae United States	15	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lead poisoning, susceptibility to, 612740, Autosomal recessive (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Lead poisoning, susceptibility to, 612740, Autosomal recessive (ALAD 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
Porphyria, acute hepatic, 612740, Autosomal recessive (Porphyria due to ALA dehydratase deficiency) (ALAD 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
Porphyria, acute hepatic, 612740, Autosomal recessive (Porphyria due to ALA dehydratase deficiency) (ALAD 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
Porphyria, acute hepatic, 612740, Autosomal recessive (Porphyria due to ALA dehydratase deficiency) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Porphyria, acute hepatic, 612740, Autosomal recessive (Porphyria due to ALA dehydratase deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Porphyria Panel PreventionGenetics, part of Exact Sciences United States	8	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Acute/Neurovisceral Porphyria Panel PreventionGenetics, part of Exact Sciences United States	4	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Porphyria panel. 9-gene NGS panel. Genologica Medica Spain	13	9	C Sequence analysis of the entire coding region

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