Clinical and research tests for C5574705 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 16 of 16

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GenepoweRx_Nephro_Care GenepoweRx Uppaluri K&H Personalized Medicine Clinic India	27	58	D Deletion/duplication analysis H Detection of homozygosity S Mutation scanning of the entire coding region T Targeted variant analysis
TBX18 - 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
CentoNephro Panel Centogene AG - the Rare Disease Company Germany	498	498	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany	499	499	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital anomalies of kidney and urinary tract 2, 143400, Autosomal dominant (Congenital hydronephrosis) (TBX18 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
Congenital anomalies of kidney and urinary tract 2, 143400, Autosomal dominant (Congenital hydronephrosis) (TBX18 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
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Panel PreventionGenetics, part of Exact Sciences United States	40	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Bilateral multicystic renal dysplasia (sequence analysis of TBX18 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Congenital anomalies of kidney and urinary tract: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	3	3	C Sequence analysis of the entire coding region
Renal Malformation NGS Panel Fulgent Genetics United States	43	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Kidney Dysplasia NGS Panel Fulgent Genetics United States	68	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TBX18 Single Gene Fulgent Genetics United States	17	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DSTYK Single Gene Fulgent Genetics United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Spastic Paraplegia NGS Panel Fulgent Genetics United States	53	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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