Clinical and research tests for C1970309 - Genetic Testing Registry (GTR) - NCBI

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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
SLC4A4 - 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
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Invitae Renal Tubular Disorders Panel Invitae United States	68	39	D Deletion/duplication analysis
Invitae Glaucoma Panel Invitae United States	57	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Renal tubular acidosis, proximal, with ocular abnormalities, 604278, Autosomal recessive (Proximal renal tubular acidosis) (SLC4A4 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
Invitae Progressive Renal Disease Panel Invitae United States	310	195	D Deletion/duplication analysis
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States	272	278	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Proximal Renal Tubular Acidosis with Ocular Abnormalities via the SLC4A4 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Glaucoma Panel PreventionGenetics, part of Exact Sciences United States	38	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
SLC4A4 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Renal tubular acidosis panel. Panel NGS genes: ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4. Genologica Medica Spain	15	5	C Sequence analysis of the entire coding region
Familial Hemiplegic Migraine Asper Biogene Asper Biogene LLC Estonia	28	13	C Sequence analysis of the entire coding region
Bartter Syndrome Asper Biogene Asper Biogene LLC Estonia	36	24	C Sequence analysis of the entire coding region
Renal Tubular Acidosis NGS Panel Fulgent Genetics United States	8	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bartter Syndrome NGS Panel Fulgent Genetics United States	39	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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