Clinical and research tests for 1131 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CHRM3 Gene Prune belly syndrome NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CHRM3 - 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
Prune belly syndrome, 100100, Autosomal recessive; PBS (Prune belly syndrome) (CHRM3 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
Prune belly syndrome, 100100, Autosomal recessive; PBS (Prune belly syndrome) (CHRM3 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
Invitae Progressive Renal Disease Panel Invitae United States	310	195	D Deletion/duplication analysis
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Panel PreventionGenetics, part of Exact Sciences United States	82	77	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital anomalies of the kidney and urinary tract (CAKUT) (NGS panel for 65 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	65	C Sequence analysis of the entire coding region
Idiopathic renal failure on young (NGS panel of 173 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	173	C Sequence analysis of the entire coding region
Nephrology Panel CGC Genetics Unilabs Portugal	1	334	C Sequence analysis of the entire coding region
Eagle-Barret syndrome (sequence analysis of CHRM3 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	77	E Sequence analysis of select exons
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain	1	1372	E Sequence analysis of select exons
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Prenatal Known Familial Mutation GeneDx United States	1	1716	D Deletion/duplication analysis T Targeted variant analysis
Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States	1	1718	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autism/ID Xpanded Panel GeneDx United States	2	2592	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary kidney disorders - different panels Institute of Human Genetics Cologne University Germany	32	481	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Prune Belly Syndrome , Sequencing CHRM3 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Prune Belly Syndrome (Prenatal Diagnosis) , Sequencing CHRM3 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.