Clinical and research tests for 1586 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
RARS2 Gene Pontocerebellar hypoplasia type 6 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
CYP17A1 Gene 17-hydroxylation activity deficiency NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning 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
CentoMetabolic MOx Centogene AG - the Rare Disease Company Germany	195	205	A Analyte 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
CentoScreen Centogene AG - the Rare Disease Company Germany	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CYP17A1 - 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
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Adrenal Hyperplasia (CAH) Panel Centogene AG - the Rare Disease Company Germany	12	12	D Deletion/duplication analysis 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
Endeavor PathGroup United States	73	505	C Sequence analysis of the entire coding region
Invitae Disorders of Sex Development Panel Labcorp Genetics (formerly Invitae) LabCorp United States	88	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Expanded Carrier Screening Genome-Nilou Lab Iran	110	146	C Sequence analysis of the entire coding region
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY (Congenital adrenal hyperplasia) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
17,20-lyase deficiency, isolated, 202110, Autosomal recessive (Congenital adrenal hyperplasia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
17,20-lyase deficiency, isolated, 202110, Autosomal recessive (Congenital adrenal hyperplasia) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
17-alpha-hydroxylase/17,20-lyase deficiency, 202110, Autosomal recessive (Congenital adrenal hyperplasia) (CYP17A1 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
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY (Congenital adrenal hyperplasia) (CYP17A1 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
17,20-lyase deficiency, isolated, 202110, Autosomal recessive (Congenital adrenal hyperplasia) (CYP17A1 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
17-alpha-hydroxylase/17,20-lyase deficiency, 202110, Autosomal recessive (Congenital adrenal hyperplasia) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis

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