Clinical and research tests for DHTKD1 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
VPS53 Gene Pontocerebellar hypoplasia type 2E NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
AMPD2 Gene Pontocerebellar hypoplasia, type 9 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
NCL Enzyme Panel NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
DHTKD1 Gene 2-aminoadipic 2-oxoadipic aciduria 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
Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis Variantyx, Inc. United States	1	335	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
DHTKD1 - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company Germany	406	414	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Panel Centogene AG - the Rare Disease Company Germany	325	316	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Nephrotic Syndrome and Focal Segmental Glomerulosclerosis (FSGS) Panel Labcorp Genetics (formerly Invitae) LabCorp United States	81	57	D Deletion/duplication analysis
Organic Aciduria Panel PreventionGenetics, part of Exact Sciences United States	39	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth disease Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth disease NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	42	C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth disease, axonal, type 2Q, 615025, Autosomal dominant; CMT2Q (Autosomal dominant Charcot-Marie-Tooth disease type 2Q) (DHTKD1 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
2-aminoadipic 2-oxoadipic aciduria, 204750, Autosomal recessive; AMOXAD (2-aminoadipic 2-oxoadipic aciduria) (DHTKD1 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
2-aminoadipic 2-oxoadipic aciduria, 204750, Autosomal recessive; AMOXAD (2-aminoadipic 2-oxoadipic aciduria) (DHTKD1 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
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	525	338	C Sequence analysis of the entire coding region

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